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All fresh back from the latest EPOS meeting in Toulouse! We Welcome listeners back to the 12th EPISODE of the BSCOS Paediatric Orthopaedic Digest (POD)cast with special guest Darius Rad of Southampton Childrens Hospital! Heradling from Transylavania in Romania, he trained at Royal London Hospital, Great Ormond Street and Noah's Ark Children's Hospital for Wales before being appointed as a consultant in Southampton where hei s part of a growing team! His favourite poem is The Road Not Taken by Robert Frost: “I shall be telling this with a sigh, Somewhere ages and ages hence: Two roads diverged in a wood, and I—I took the one less travelled by, And that has made all the difference.” We scoured 35 journals & highlighted the most impactful studies that we feel can change practice or improve outcomes in Paediatric Orthopaedics. Also…we play EURO-HOT or EURO-NOT so stay tuned and be educated on 90's European Dance Music!Follow Updates on @BSCOS_UK on X / Instagram!REFERENCES:1.    Autism screening and diagnostic outcomes among toddlers born preterm. Hamner et al. Dev Med Child Neurol. March 2025. PMID: 39165130 2.    The effect of vitamin D on the speed and quality of pediatric fracture healing. Hendrych et al. J Child Orthop. November 2024. PMID: 39563984 3.    Spontaneous recovery in the majority of stable dysplastic hips treated with active surveillance. Theunissen et al. Bone Joint J. February 2025. PMID: 39889762. 4.    Proximal versus distal tenotomy of the iliopsoas tendon in the surgical treatment of developmental dysplasia of the hip: a randomized clinical trial. Doski J. Int Orthop. March 2025. PMID: 39853427. 5.     Intraoperative Tranexamic Acid Infusion Reduces Perioperative Blood Loss in Pediatric Limb-Salvage Surgeries: A Double-Blinded Randomized Placebo-Controlled Trial. El Ghoneimy et al. J Bone Joint Surg Am. March 2025.  PMID: 39841811. 6.     Morphological Improvement of the Epiphyseal Plate and Trochlea After Surgical Correction in Skeletally Immature Patients With Patellar Dislocation and Trochlear Dysplasia. Hao et al.  Am J Sports Med. February 2025. PMID: 39743963. 7.     Dexterity assessment of hospital workers: prospective comparative study. Joseph et al. BMJ. December 2024. PMID: 39706594. 8.     Subtalar arthroereisis with metallic implant is a safe and effective treatment for pediatric patients with symptomatic flexible flatfeet. A 10-year clinical and radiographic follow-up. Moraca et al. Foot Ankle Surg. Jan 2025. PMID: 38972783 9.     The risk of refracture and malunion in children treated for diaphyseal forearm fractures: a retrospective cohort study. Husum et al. Acta Orthop. Feburary 2025. PMID: 39993177; 10.  Optimal Timing for Advanced Imaging in Childhood Bone and Joint Infection. Hunter et al. J Pediatr Orthop. Feburary 2025. PMID: 39307981. 11.  Get Over It: Surgical Residents' Responses to Simulated Harassment. A Multi Method Study. Johnson et al. J Surg Educ. March 2025. PMID: 39818080. 12.  Oral Infigratinib Therapy in Children with Achondroplasia. Savarirayan et al. N Engl J Med. February 2025. PMID: 39555818. 13.  From Sheep to Sling: Pediatric Injuries Due to Rodeo Mutton Bustin'. Schultz et al. J Pediatr Orthop.April 2025. PMID: 39831656. Follow Hosts: @AnishPSangh @AlpsKothari @Pranai_BTune in for the next episode in Summer! Have a fantastic Easter!

Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between families, clinicians, researchers, and regulators is paving the way for faster diagnoses, equitable access to treatments, and innovative approaches like nucleic acid therapies and CRISPR gene editing. With insights from Myotubular Trust, we follow the journey of family-led patient communities and their impact on advancing gene therapy for myotubular myopathy - showcasing how lived experience is shaping the future of medicine. However, while patient-driven initiatives have led to incredible progress, not every family has the time, resources, or networks to lead these research efforts. Our guests discuss initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline the development of innovative treatments and ensure equitable access for everyone impacted by rare conditions. Our host Dr Ana Lisa Tavares, Clinical lead for rare disease at Genomics England, is joined by Meriel McEntagart, Clinical lead for rare disease technologies at Genomics England, Anne Lennox, Founder and CEO of Myotubular Trust and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at University of Oxford. "My dream is in 5 to 10 years time, an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested. And at that exact time, the day of the diagnosis becomes also a day of hope, in a way, where immediately the researcher that sent the genetics lab flags that specific variant or specific mutations. We know exactly which is the best genetic therapy to go after." You can download the transcript, or read it below. Ana Lisa: Welcome to Behind the Genes.    [Music plays]  Anne: What we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family, they would tell you, “Yes, my son has had the odd liver result.”  There were some very serious liver complications but everybody thought that was a minor issue, but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  [Music plays]  Ana Lisa: My name is Ana Lisa Tavares, I'm Clinical Lead for Rare Disease research at Genomics England and your host for this episode of Behind the Genes. Today I'm joined by Anne Lennox, Founder and CEO of the Myotubular Trust, Dr Meriel McEntagart, an NHS consultant and Clinical Lead for Rare Disease Technologies at Genomics England, and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at the University of Oxford.    Today we'll be hearing about the importance of involving the patient community, particularly as new rare therapies are developed, and discussing the forward-facing work that's happening that could have potential to unlock novel treatments for many rare conditions.  If you enjoy today's episode we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Thank you so much for joining me today.  Please could you introduce yourselves.   Anne: I'm Anne Lennox, I'm one of the founders of the Myotubular Trust, a charity that raises research funds for and supports families affected by the rare genetic neuromuscular disorder myotubular myopathy.  Meriel: I'm Meriel McEntagart, I'm a consultant in clinical genetics in the NHS and I have a special interest in neurogenic and neuromuscular conditions.  Carlo: Hi, I'm Carlo Rinaldi, I'm Professor of Molecular and Translational Neuroscience at the University of Oxford. I'm a clinician scientist juggling my time between the clinic and the lab where we try to understand mechanisms of diseases to develop treatments for these conditions.  And I'm also here as a representative of the UK Platform for Nucleic Acid Therapies, UPNAT. Thanks for your invitation, I'm very pleased to be here.  Ana Lisa: Thank you. Meriel, I'd love you to tell us a bit about your work and how you met Anne, how did this story start?  Meriel: Thank you. Well prior to being a consultant in clinical genetics, I spent 2 years as a clinical research fellow in neuromuscular conditions, and as part of that training I worked on a project where the gene for myotubular myopathy had just been identified, and so there was a big international effort to try and come up with sort of a registry of all the genetic variants that had been found as well as all the clinical symptoms that the affected patients had, and then do kind of a correlation of the particular variant mutation with symptoms.   I worked when I was training to be a clinical geneticist because of my interest in neuromuscular conditions so when I eventually became a consultant at St George's Hospital I was actually interviewed by the Professor of Paediatrics and he knew Anne and her son, when Anne was looking for more information about the condition he suggested that perhaps I might be a good person for Anne to talk to.  Ana Lisa: Thank you. Interesting connections. Anne, can you tell us your story and how this led you to found the Myotubular Trust?  Anne: Yes, thanks Ana-Lisa.  Well, as many families will tell you when they're newly diagnosed with a rare disease, you go from knowing nothing about a condition to being one of the few deep experts in that condition because there are so few deep experts. So this happened to us in 2003 when our son, Tom, was born, and when he was born he was floppy and his Apgar scores, the scores they do on new-born babies, were pretty poor, and before long we knew that it was more than just momentary issues at birth.  And, cutting a very long story short, 5 weeks later he was diagnosed with this very rare neuromuscular genetic disorder that we didn't know we had in the family.  We were told that this was a very serious diagnosis.    At that time – more than 20 years ago – over 80% of those boys didn't make it to their first birthday and the stark statistic we had in our head a lot was that only 1% made it past the age of 10. And that has changed due to better ventilator and breathing equipment, etc, but at the time we expected that he might not make it to his first birthday.    We were very lucky, we had Tom longer than one year, we had him for nearly 4 years, 4 very lovely years where it was tough, but he was a really lovely member of our family.  Despite being really weak he managed to be incredibly cheeky and bossy, and he was a great little brother for his big sister. We were also very lucky that he was being looked after by Professor Francesco Muntoni, who is Head of the Paediatric Neuromuscular Service at Great Ormond Street. And, like Carlo, he is a clinical researcher and actually that I found to be amazing as a family member because you knew what was happening out there and Professor Muntoni, other than living with the reality day to day you want to know where things are going.    We began to realise that back then 20 years ago the more common rare neuromuscular diseases were finally beginning to get some fundamental research funds, like Duchenne, spinal muscular atrophy, and Professor Muntoni was very good at explaining to lay non-scientific parents like us that one day the technologies that would lead to a cure, that would re-engage proteins for other conditions and would translate down eventually into the possibility of replacing myotubularin, which is the protein not being produced or not being produced enough in myotubular myopathy. And then we began to understand actually what the barriers to that would be, that translating developments in more common, or let's say more prevalent conditions, would be hard to do without some translation research being done; you could not just not lag years behind, you could lag decades behind if you haven't done some other work.    So, I met Wendy Hughes, another mother, of a boy called Zak who was a few years older than Tom, and these were the days before social media, and it was amazing to be in contact with another family going through something similar and we had great conversations. But then they were also looked after by Professor Muntoni and we particularly began to develop the idea as 2 families that we might be able to raise some research funds towards this concept of keeping pace with the scientific developments.  And then we discovered there was no charity we could channel those funds through. Even the umbrella body for neuromuscular diseases who were covering 30 to 40 conditions, frankly, they just couldn't trickle their funding down into investing in every neuromuscular disease, and slowly but surely it dawned on us that if we did want to make that difference we were going to have to set up our own charity.   So that's what we eventually did and back in 2006, we founded what was actually the first charity in Europe dedicated to myotubular myopathy – luckily, more have come along since – and we were dedicated to raising research funding. In fact, it wasn't our goal to set up another charity but around that time, about a year in, we happened to go to a meeting where the Head of the MRC, the Medical Research Council, was giving a talk and he said that in the last few years the MRC had begun to really realise that they couldn't cure everything, that they couldn't cure the diseases that would be cured in the next millennium from a top down perspective. There had to be a trick, there had to be a bottom up as well, because that was the only way this was going to happen. And I have to say that that was a really reassuring moment in time for us to realise that we weren't just chasing pipe dreams and trying to do something impossible, that there was a role for us.    Ana Lisa: I think it would be really interesting for people to hear your story and the amazing set-up and fundraising that you've done, and at the same time it would be really good for us to reflect on how this isn't feasible for every patient and every family and how we're going to need to work cooperatively to move forwards with rare therapies.  Anne: When we explored the idea with Professor Muntoni and Meriel and others about setting up a charity one of the really reassuring things that Professor Muntoni got across to us was that this wasn't about raising the millions and millions it would take to fund clinical trials but the issue in the rare disease space was funding the proof of principle work, the work where you take a scientist's hypothesis and take it over the line, and the rarer the disease, the less places there are for a scientist to take those ideas. And the example he gave us was a piece of research like that might cost a hundred to a couple of hundred thousand, if you fund a piece of work like that and if it is successful, if the scientist's principle gets proven, then behind you it's much easier for the bigger muscle disease charities to also invest in it. It's harder for them to spread their money across all the very rare diseases hypothesis out there, but if you've helped a scientist get over the line they'll come in behind you and then they won't be the ones who fund the tens of millions that it takes to run a clinical trial.    If it's got potential, then that's where the commercial world comes in, and that's where the biotechs come in. So he'd given the example of if you spent £ten0,000 on a piece of research and it actually is proven, in behind you will come the bigger charities that would put in the million that takes it to the next phase, and in behind them will come the bio-checks that'll provide biotechs that'll provide the tens of millions.    And then, you know, a lot of what happens relies on serendipity as well, we know that, and you could easily run away with the idea that you made everything happen but you don't, you stand on the shoulders of others. And our very first grant application in our first grant round, which received extraordinary peer review for how excellent the application was, was a £100,000 project for a 3-year project that had gene therapy at the core of it by a researcher called Dr Ana Buj Bello at Généthon in Paris. This piece of research was so promising that 18 months in she and another researcher were able to raise $780,000 and, as Professor Muntoni predicted, from the French muscle disease charity AFM and the American muscle diseases charity MDA.  And 18 months into that 3 years it was so promising that a biotech company was started up with $30 million funding, literally just on her work.    So that doesn't always happen but, as Professor Muntoni explained, our job was not that $30 million, our job was that first £100,000, and our job was also to make ourselves known to the people in the neuromuscular field.  If you have lab time, if you have research time and you have a choice where you're putting it there is a place you can go to for a myotubular myopathy related grant application, so it's not just that this will come to us out of the blue, people will have done prior work, and our existence makes it worth their while, hopefully, to have done that prior work.  Ana Lisa: That's an amazing story how you've set up this charity and how successful that first application for gene therapy was. I'd love to hear more about that gene therapy and did it get to the clinic and to hear that story from you.  Because I think there are a lot of learnings and it's really important that the first patients who are treated, the first families that are involved, the researchers who start researching in this area, the first treatments lead the way and we learn for all the other treatments for all the other rare conditions that we hope and that together as a community we can share these learnings.  Anne: Yeah. I sometimes describe it a bit like going out into space. When you see a rocket going off look at how many people are behind and the amount of work that's been done, the degree of detail that's managed, and then you go out into space and there are a whole load of unknowns, and you can't account for all of them.  Who knows what's out there in this sphere.  But the amount of preparation, it feels similar to me now, looking back.  We were so idealistic at the beginning.  Our grant to Dr Buj Bello was 2008 and actually it is a really fast time in, the first child was dosed in the gene therapy trial in September 2017.  Ana Lisa: So, we're talking less than 1 years.  Anne: Yeah. And in the meantime obviously as a charity we're also funding other proof of principle research. One of the founding principles of the charity was to have a really excellent peer review process and scientific advisory board so that we wouldn't get carried away with excitement about one lab, one research team, that everything would always come back to peer review and would be looked at coldly, objectively. I don't know how many times I've sat in a scientific advisory board meeting with my fingers crossed hoping that a certain application would get through because it looked wonderful to me, and then the peer review comes back and there are things you just don't know as a patient organisation. So, yes, in those 9 years we were also funding other work.  Ana Lisa: You've just given an interesting perspective on sharing the learnings between the scientists, clinicians, the experts in a particular condition, if you like, and the families, and I'd be really interested to hear your views on what's been learnt about how families and the patient community can also teach the clinical and scientific community.  Anne: So, the first child was dosed in September 2017 and by the World Muscle Society Conference 2 years later in October 2019 the biotech had some fantastic results to show. Children who had been 24-hour ventilated were now ventilator-free, which, unless you know what it's like to have somebody in front of you who's ventilator-dependent, the idea that they could become ventilator-free is just extraordinary.    However, one of the things we've learnt about gene therapy is that we are going out into space so there are extraordinary things to be found, and extraordinary results are possible, as is evidenced here, but there is so much that we don't know once we are dealing with gene therapy. So unfortunately, in May, June and August of 2020, 3 little boys died on the clinical trial. So we have a clinical trial where the most extraordinary results are possible, and the worst results are possible, and both of those things are down to the gene…  What we discovered and what is still being uncovered and discovered is that myotubular myopathy is not just a neuromuscular disorder, it is a disorder of the liver too, and these children didn't die of an immune response, which is what everybody assumes is going to happen in these trials, they died of liver complications.    And one of the things that has come out of that, well, 2 sides to that. Number one is that it is extraordinary that we have found a treatment that makes every single muscle cell in the body pick up the protein that was missing and produce that protein, but also what we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family they would tell you, “Yes, my son has had the odd liver result, yes.”    We could see something that looked like it was not that relevant because it was outside the big picture of the disease, which was about breathing and walking and muscles, but actually there was this thing going on at the same time where the children had liver complications. There were some very serious liver complications but everybody thought that was a minor issue but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  Ana Lisa: Yeah, thank you very much for sharing such a moving story and with such powerful lessons for the whole community about how we listen to the expertise that families have about their condition, and also I think the really important point about how we tackle the research funding so that we're including and sharing learnings from the conditions that are initially studied in greater depth, and we hope that many more conditions will be better understood and more treatments found and that actually the learnings from these first gene therapy trials will really help inform future trials, not just for gene therapies but also for many other novel therapies that are being developed.  [Music plays] If you're enjoying what you've heard today, and you'd like to hear some more great tales from the genomics coalface, why don't you join us on The Road to Genome podcast. Where our host Helen Bethel, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests, including the rapping consultant, clinical geneticist, Professor Julian Barwell, about Fragile X syndrome, cancer genomics and a holistic approach to his practice - a genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. [Music plays] Ana Lisa: Carlo, I would really like to come to you about some of the initiatives that are happening in the UK, and particularly it would be really interesting to hear about the UK Platform for Nucleic Acid Therapies as a sort of shining example of trying to do something at a national scale across potentially many different rare conditions.    Carlo: Thanks, Ana-Lisa. Thanks very much, Anne, for sharing your fantastic story. I mean, I just want to iterate that as clinician scientists we do constantly learn from experiences and constantly learn from you, from the patient community, and this is absolutely valuable to push the boundary. And I really liked your vision of a rocket being launched in space and I would imagine that this is a similar situation here. So, we are facing a major challenge. So, there is over 7,000 rare diseases in the world and with improvements of genetic diagnosis this is only increasing. So, in a way rare diseases is the ultimate frontier of personalised medicine and this poses incredible challenges.   So, you mentioned the bottom-up approach and the top-down approach and in a way, both are absolutely necessary. So your story is a fantastic story but also makes me think of all the other families where they don't share perhaps the same spirit, you know, they are in areas of the world that are not as well connected or informed, where patient community simply cannot be ‘nucleated', let's say, around the family. So, there is definitely an issue of inclusivity and fair access.    So, what we're trying to do at UPNAT, which is the UK Platform for Nucleic Acid Therapy, is to try to streamline the development both at preclinical and clinical level of nucleic acid therapies. So, we'll start with antisense oligonucleotides just because those are the molecules of the class of drugs that are most ‘mature', let's say, in clinic. So, there are several antisense oligonucleotides already approved in the clinic, we know that they are reasonably safe, we understand them quite well, but of course the aspiration is to then progress into other forms of gene therapy, including gene editing approaches, for example.   And one of the activities that I'm involved, together with Professor Muntoni, is to try to streamline the regulatory process of such therapies and in particular curate a registry of, for example, side effects associated with nucleic acid therapy in the real world, and you would be surprised that this is something that is not yet available.  And the point is exactly that, it's trying to understand and learn from previous mistakes perhaps or previous experiences more in general.    And this is very much in synergy with other activities in the UK in the rare disease domain.  I'm thinking of the Rare Disease Therapy Launchpad, I'm thinking of the Oxford Harrington Centre, I am thinking of the recently funded MRC CoRE in Therapeutic Genomics. These are all very synergistic. Our point is we want to try to amplify the voice of the patient, the voice of the clinicians working on rare disease, and we want to systematise. Because of course one of the risks of rare disease therapies is the fragmentation that we do all these things in isolation. And I would argue that the UK at the moment leveraging on the relatively flexible and independent regulatory agencies, such as the MHRA, on the enormous amount of genetics data available through Genomics England, and of course the centralised healthcare system, such as the NHS, is really probably the best place in the world to do research in the rare disease area, and probably I'm allowed to say it because I'm a non-UK native.       Ana Lisa: Thank you, that's a brilliant perspective, Carlo, and across all the different therapeutic initiatives that you're involved with. And, Carlo, presumably - we're all hoping - these different initiatives will actually lead to ultimately a bigger scaling as more and more novel therapies that target both our RNA and DNA and actually are working, I guess further upstream in the pathway.    So classically in the past it's been necessary to work out all the underlying biology, find a druggable target somewhere in that pathway and then get a larger enough clinical trial, which can be nearly impossible with many of the rare and ultra-rare conditions or even, as you've said, the sub-setting down of more common condition into rarer subtypes that perhaps can be treated in different ways.  And with the many new different treatments on the horizon, ASO therapies, as you've said, is a place that's rapidly expanding, and also crisper gene editing. I'd be really interested to hear your reflections on how this might scale and also how it might extend to other new treatments.  Carlo: Yeah, that's exactly the right word, ‘scaling up'. I mean, there will be of course very unique challenges to every single rare disease but I would argue that with genetic therapies, such as ASOs or crisper gene editing, the amount of functional work that you need to do in a lab to prove yourself and the scientific community that this is the right approach to go for can be certainly very important but can be less just because you're addressing very directly because of the disease.    And then there are commonalities to all these approaches and possibly, you know, a platform approach type of regulatory approval might serve in that regard. You know, if you are using the same chemistry of these antisense oligonucleotides and, you know, similar doses, in a way the amount of work that you need to produce to again make sure that the approach is indeed a safe approach and an effective approach might be also reduced.    I would say that there are also challenges on other aspects of course, as you were saying, Ana-Lisa. Certainly the typical or standard randomised placebo control trial that is the standard and ultimate trial that we use in a clinical setting to prove that a molecule is better than a placebo is many times in the context of rare diseases simply not possible, so we need to think of other ways to prove that a drug is safe and is effective.   This is something that we all collectively as a scientific community are trying to address, and the alliance with the regulatory agencies, such as the MHRA, and you said that you have found your interaction with the MHRA very positive, and I can tell you exactly the same. So we are all trying to go for the same goal, effectively, so trying to find a way to systematise, platformise these sort of approaches. And I guess starting with antisense oligonucleotides is really the right place to go because it's a class of drugs that we have known for a long time, and we know it can work.  Ana Lisa: Meriel, can you tell us a little about the National Genomic Research Library at Genomics England and how this could link with initiatives to find many more patients as new treatments become available for rare and ultra-rare conditions?  Meriel: Yes, I think what's wonderful now is actually that what we're really trying to do is give everybody the opportunity to have their rare condition specifically diagnosed at the molecular level, and the way in which that is being done is by offering whole genome sequencing in the NHS currently in England but to all patients with rare diseases.    And so, it's about trying to establish their diagnosis. And as well as that, even if the diagnosis isn't definitely made at the first pass when the clinical scientists look at the data, because the whole genome has been sequenced, actually all that information about their genome, if they consent, can then be put into the National Genomics Research Library.  And that is a fantastic resource for national and international researchers who get approved to work in this trusted research environment to make new disease gene discoveries and identify these diagnoses for patients.  What's also offered by Genomics England as well is when the National Genomics Library data results in a new publication, the discovery of a new gene or perhaps a new molecular mechanism that causes a disease we already know about, that feeds back into the diagnostic discovery pathway within Genomics England back onto the diagnostic side of all the data.    So, patients who may have had genetic testing previously using whole genome sequencing where they've, if you like, had their sequencing done before the diagnosis was sort of known about, will also be picked up. And so, what this is really doing is trying to kind of give this really equal platform for everybody having testing to all have the same opportunity to have their diagnosis made, either on the diagnostic side or with research.  Ana Lisa: So, sort of on a cohort-wide scale as new discoveries are made and published you can go back and find those patients that may actually have that diagnosis and get it back to them, which is brilliant.  Meriel: Exactly. And this speeds up the whole process of getting these diagnoses back to people. So on a regular basis in the NHS, we will get feedback from the Diagnostic Discovery Pathway about “Here's some patients who you requested whole genome sequencing from a number of years ago and actually now we think we know what the particular molecular condition is.”  And so, it's key of course for our patients with rare conditions to make that molecular diagnosis because then we're able to have them identified for our colleagues who are doing this ground-breaking research trying to bring therapies for these rare conditions.  Ana Lisa: Thank you. And I hope that, as currently, if a novel genetic mechanism, as you've just described, is identified that could explain a rare condition that those patients can be found and they can receive that diagnosis, even many years later, and hopefully as novel treatments become available and say there's a chance to individualise ASO therapies, for example, to start with, that one could also go and look for patients with particular variants that could be amenable potentially to that treatment. And that's really sort of exciting that one could look for those patients across England, irrespective of which clinic they're under, which specialist they're under, and I think that could be really powerful as new treatments develop. I suppose, Meriel, if somebody comes to see you now in clinic are things different?  Meriel: Well, I think one of the things for me when patients come to clinic now is we might have an idea about what we think their condition is, maybe even we think it's a specific gene. And we can offer whole genome sequencing and so it's not just the way we used to do things before by looking just at the coding regions of the gene, we can find more unusual ways in which the gene can be perturbed using whole genome sequencing.  But let's say we don't make the diagnosis. I encourage my patients, if they're comfortable with it, to join the National Genomics Research Library, because really it's been incredibly productive seeing the new genetic discoveries that are coming out of that, but as well I say to them, even if we don't get the diagnosis the first time round when we look at the data, actually this is a constant cycle of relooking at their data, either if they're in the NGRL or as well on the Diagnostic Discovery Pathway side of the service that's run by Genomics England. So yeah, I feel like it's a very big difference; they don't have to keep coming every year and saying, “Is there a new test?” because actually they've had an excellent test, it's just developing our skills to really analyse it well.  Ana Lisa: Yes, and our knowledge, the technology and the skills keep evolving, certainly.  And I think one of the things that I'm sort of hearing from this conversation is that balance of hope and realism, Carlo we were talking about earlier how you need all the pieces of the puzzle to be lined up - so the regulatory agency, the clinicians, all the preclinical work has to have been done, monitoring afterwards for side effects - every piece of the puzzle has to be lined up for a new treatment to make it to a patient.    And, Anne, I'd like to come back to you because we've talked about this before, how one balances these messages of optimism and hope which are needed for bringing everybody together as a community to crack some of these very difficult challenges highlighted by treatments for rare and ultra-rare conditions and at the same time the need for realism, a balance conversation.  Anne: Yeah, that was one of our big learnings through the gene therapy trial and other trials we've had in the condition. As a rare disease charity, you do everything. You know, my title is CEO, but I tell people that's Chief Everything Officer because there's only a few of you and you do everything. So, you go and you lead the London Hope Walk and you also are a layperson on the Scientific Advisory Board and you also send out the emails about grants... And so, you could easily as a small rare disease charity conflate different communication messages because you're in a certain mode.  And so we have been from the early days in the mode of raising hope for people to say, “Look, we can make a difference as a patient community, we could raise funds, we might be able to move things forward, you've got the power to make a difference if you want to.” That's one set of hope.  And it's not dreamlike hope, we're linked to the reality of there are great breakthroughs.  So, you know, in the world of spinal muscular atrophy these clinical trials have led somewhere very quickly, so we're not selling false hope, we're talking about the difference we can make.    But then as soon as you flip into “There's a clinical trial being run” that's a completely different type of communication and you cannot conflate that message with the previous message.  And we always say to everybody, “We're your team, we're a family, we're a team, we all help each other.  When you are considering joining a clinical trial your team is the clinical trial team.    The other team does other things for you but the people you need to work with and ask hard questions of and listen hard to, that's your clinical trial team led by the principal investigator because then you're in that with them. And, you know, the reality of the fact that many, many clinical trials don't work as we wish they would be and the decision you make for your child, your baby, your little one, to join a clinical trial… because that's what it comes down to in our disease, has to be made with that team, not the team that's selling you a fundraising event. It's worth reminding rare disease patient organisations we're wearing different hats and the hope and the realism are different tracks you have to go down.    But at the same time as being realistic you also have to keep remembering that there is still grounds for hope, we are moving forward. And 21 years ago, when Tom was born the idea that you would be able to get all of the muscles in the body to switch back on – putting it in lay terms – seemed like a bit dream. Well, that is what has happened in the gene therapy clinical trial, we just have to now make it safer and understand more about what we're dealing with. So, the 2 things, the hope and the realism, do exist side by side.  Ana Lisa: I think that perfectly encapsulates a lot of the messages around rare disease therapies where there's such hope that novel treatments will really target directly the DNA or RNA to potentially correct the problem across many different rare conditions and therefore actually making treatments one day suddenly available to a much, much bigger population of people with rare conditions than we could've dreamt of 20 years ago or perhaps now, and at the same time this massive need to work cooperatively to all make this as fair, as equitable. Not everybody is going to have the opportunity to fundraise massively to be an expert about their condition, and the importance of sharing these learnings and also really, really listening to the patient community and really, as Carlo was saying, keeping track of side effects, having registries/databases to share these is going to be incredibly important.  [Music plays]  Ana Lisa:  Anne, can you tell us a little about your reflections on equity from the patient community perspective?  Anne: Well I mentioned serendipity early and one of the aspects of serendipity that played into our favour for setting up the Myotubular Trust was that by hook or by crook Wendy Hughes, who set up the charity with me, and I were both able to devote time at that period of our lives to setting up a charity. When my husband, Andrew, and I were told that Tom would more than likely die before his first birthday, one of the decisions we made as a family was that he would never not be with a parent, we would always have someone around, and that kind of meant someone had to give up a full-time job and that was me.  We thought, “If Tom has a few scarce months on the planet, we'll be with him.” And then when Tom lived to be nearly 4, as a family we got used to living on one salary and we were very lucky that we could pay the mortgage that way and run our family that way and eventually that meant I had the time to run the charity.    That doesn't happen that easily, that's a tall order, particularly when you have somebody in the family who has such high needs. And one of the things that I have often thought about is that in the rare disease space we could do with a different funding model for rare disease charities, we could, in an ideal world I have this nirvana that I imagine where there's a fund that you can apply to that is contributed to by the people who make profits out of finding rare disease cures - so the pharmaceutical companies and the biotechs - and there's a fund that they contribute to and that if you have a rare disease and you are willing to set up an organisation that supports families, that raises research funds, that provides a way of hearing the patient voice, then you could apply to that for running cost funds and then you'd be able to run this charity. And then you wouldn't have to rely on whether you live in an area where people will raise money for you or…  We were very lucky that we came across a few great benefactors who would give us money for running the charity, which is actually how we fund it.    All the research money we raise goes 100% into research, not a penny of it goes towards running costs because we have serendipitously found people who will be benefactors for the charity, but we're relying on a lot of good luck for that kind of model to work. And when you look at how much profit is made from developing rare disease treatments and cures – which is fine because that's what puts the passion and that gets people working on it – then why not have an advance fund to run rare disease charities? One of my nirvana dreams.  Ana Lisa: It's good to dream. Indeed, my hope is that there will be some amazing shining examples that lead the way that open doors, make things possible, prove that something can work and how and that then that will enable many other treatments for many additional rare conditions to be added in so that if you've learnt how this particular treatment modality works for this rare condition and there was funding behind it and everything else that's needed that then you can, the learning from that, I'm going to use the word ‘tweak', which sounds minor and could be very major but actually the concept that you can then tweak all those learnings and findings so that that same type of treatment modality could be adapted to treat somebody else with a different rare condition in a different location would be absolutely incredible and really powerful, given that if something like 85% of rare conditions affect less than one in a million people it's not going to be feasible to use the same strategies that have been used in the past for very common conditions.    One of the other big barriers is the cost of developing treatment for ultra-rare conditions.  Where it's a small number of patients that you have and therefore all the challenges that come with monitoring, checking for efficacy, monitoring safety and ultimately funding the challenges are much greater, however if some of these treatment modalities are also going to be used to treat common conditions it might be that actually there's a lot more cross-talk between the nano-rare, ultra-rare, rare and common conditions and that we can share a lot of that learning. I'd love to hear from each of you where you hope we will be for rare disease and rare therapies.  Carlo: Well my dream is that in 5 to 10 years' time an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested, and at that exact time the day of the diagnosis becomes also a day of hope in a way where immediately the researcher, the centre, genetics lab, flags that there are the specific mutations, we know exactly which is the best genetic therapy to go after, antisense oligonucleotides as opposed to CRISPR editing, and a path forward, both at the preclinical and clinical level, to demonstrate and to cure these patients eventually is already laid out in front of the patient.  So, transforming the day of their diagnosis as a day of hope, this is my dream with the next ten years.  Ana Lisa: Thank you, that's a wonderful dream. Meriel, can I come to you?  Meriel: Yes, I think I just want to echo Carlo.  We've had great developments and progress with getting whole genome sequencing into the NHS for testing but what we really need is for it to be fast and efficient and getting those diagnoses established quickly. And we have had that set up now and we're really getting there in terms of speed, but then what we need is exactly what's the next step and actually structure like UPNAT that are developing these processes that we can then say to the patient, “And from there, now that we've established your diagnosis, this is what we have options to offer.”  Ana Lisa: Brilliant. And presumably that if the diagnosis isn't achieved now there is a hope that it will be achieved in the future as well. Anne...  Anne: Well, stepping one hundred per cent into the patient's shoes rather than the scientific side that we don't so much influence....  stepping in the patient's shoes, in 5 years' time I would absolutely love it if we were in a situation where all the parties that have come to the table looking at a therapy or in the earlier research genuinely want to bring the patient voice into the room. As Carlo talked about, there's even going to be more and more and more of these rare diseases, then those voices, those few people who have experience of it, they may be able to shed light on something. Maybe even sometimes don't even know it's a fact that they know but that were brought to the table as passionately as everything else is brought to the table.  [Music plays]  Ana Lisa: We'll wrap up there. Thank you so much to our guests, Anne Lennox, Carlo Rinaldi and Meriel McEntagart, for joining me today as we discuss the collaborative power of working together and look to the future of rare therapies that could have the potential to unlock treatments for many rare conditions. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app.  Thank you for listening.  I've been your host, Ana-Lisa Tavares. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand.  

In this episode of the Just Chill Parenting Podcast, Rosey Davidson is joined by Ciara McClarey, also known as The Child Physio. Ciara is a Clinical Specialist Paediatric Physiotherapist with over 15 years of experience, having worked in leading teaching hospitals, including Great Ormond Street.She is passionate about making expert advice accessible to parents and helping children develop strong movement skills.Together, they discuss key baby motor milestones and when to expect them, the impact of baby containers like walkers and jumperoos, the importance of tummy time (and what to do if a baby dislikes it), and how sleep supports physical development and recovery.Packed with expert insights, this episode is a must-listen for parents looking to support their child's movement and overall well-being.Find Ciara @thechildphysio

Episode 21 - Actor, Director, and RADA alum Fred Gray shares his journey with Total Colonic Hirschsprung's, his family's experiences, and the impact of Great Ormond Street's Mr. Ed Kiely on their lives. Disclaimer: Please note that all information and content on the UK Health Radio Network, all its radio broadcasts and podcasts are provided by the authors, producers, presenters and companies themselves and is only intended as additional information to your general knowledge. As a service to our listeners/readers our programs/content are for general information and entertainment only.  The UK Health Radio Network does not recommend, endorse, or object to the views, products or topics expressed or discussed by show hosts or their guests, authors and interviewees.  We suggest you always consult with your own professional – personal, medical, financial or legal advisor. So please do not delay or disregard any professional – personal, medical, financial or legal advice received due to something you have heard or read on the UK Health Radio Network.

Episode 20 - Welcome returning Fred Gray and Mr. Curry, whom I've not seen in 20 plus years. We discuss Mr. Curry's career at Great Ormond Street, working with Mr. Ed Kiely and Prof. Lewis Spitz, and the rewards of top-tier surgery. Disclaimer: Please note that all information and content on the UK Health Radio Network, all its radio broadcasts and podcasts are provided by the authors, producers, presenters and companies themselves and is only intended as additional information to your general knowledge. As a service to our listeners/readers our programs/content are for general information and entertainment only.  The UK Health Radio Network does not recommend, endorse, or object to the views, products or topics expressed or discussed by show hosts or their guests, authors and interviewees.  We suggest you always consult with your own professional – personal, medical, financial or legal advisor. So please do not delay or disregard any professional – personal, medical, financial or legal advice received due to something you have heard or read on the UK Health Radio Network.

In this New Year special episode, Dr Elaine Lockhart sits down with Dr Hilary Cass to discuss her pivotal role in chairing the independent review into gender identity services for children and young people. She explores the background and growing need for the review, addressing the rise in referrals, key findings, and her recommendations for providing holistic, evidence-based care. Dr Cass highlights the importance of understanding the diverse needs of young people in this sensitive area of healthcare. Meanwhile, Dr Asilay Seker sits down with Dr Saam Idelji-Tehrani to examine the underrepresentation of minoritised ethnic groups in mental health services, focusing on a significant study conducted at Great Ormond Street. Saam discusses the potential impact of unconscious bias in triage processes, barriers to accessing care, and the pressing need for improved data collection on ethnicity. He emphasises the importance of addressing intersectionality and the broader implications of these findings for research and practice.

As Christmas draws near, this week's Sunday brings the latest religious stories shaping the news agenda.Pope Francis is about to release his autobiography – the first by any pontiff. Among its revelations is a startling account of how UK intelligence foiled an assassination plot during his 2021 visit to Iraq. Colm Flynn, who accompanied the Pope on that trip, shares his insights into the dramatic events.At Great Ormond Street Hospital, the fallout from disgraced surgeon Yaser Jabbar has cast a shadow over its vital work. Yet, amid the challenges, lead chaplain Dorothy Moore Brookes is bringing comfort and joy to families spending Christmas far from home. We join her on the wards to witness the impact of her work.Gold has always been more than a precious metal – it carries deep spiritual significance and a cosmic story. Alan Ereira, author of A History of Gold: How It Shaped Humanity, traces its journey from interstellar collisions to its role in empires and its environmental legacy today.In Gaza City, where the conflict rages on, aid worker George Antone describes life in the compound of the Holy Family Church. With homes destroyed and hope tested, 500 parishioners prepare for their second Christmas in exile.And after a tumultuous few weeks for the Church of England – with Archbishop Justin Welby stepping down and safeguarding allegations swirling around his successor – we ask Bishop Michael Ipgrave of Lichfield what lies ahead for the embattled institution.Presented by Emily Buchanan Producers: Rajeev Gupta & Katy Davis Editor: Chloe Walker

As 2024 comes to a close, we take a moment to reflect on what has been a busy year at Genomics England and in the wider genomics community. Throughout the year, guests have joined us to discuss groundbreaking research discoveries, important ethical considerations, and share their personal stories. It was also a year of transformation: we rebranded our podcast as Behind the Genes, welcomed Dr Rich Scott as our new Chief Executive Officer, and launched the Generation Study, in partnership with NHS England. The Participant Panel also saw changes, with Kirsty Irvine stepping into the role of Chair and Adam Clatworthy and Helen White becoming Vice Chairs. In this special end of year episode, Adam Clatworthy, Vice-Chair of the Participant Panel, sits down with Dr. Rich Scott, CEO of Genomics England, to look back on the highlights of 2024. Together, they revisit key podcast moments, reflect on research discoveries, and share insights into the evolving world of genomics. Below are the links to the podcasts mentioned in this episode, in order of appearance: Celebrating genomic breakthroughs - Insights from the Festival of Genomics Shining a light on rare conditions How has a groundbreaking genomic discovery impacted thousands worldwide? How can we work in partnership towards a new era of genomic medicine and research? How has design research shaped the Generation Study? How can we bridge the gap between diverse communities? Can Artificial Intelligence accelerate the impact of genomics? "It's really important that we just continue to bring that patient and participant community on that journey, just to ensure that they really understand the full benefits. And we've talked about that on the episode today. I know that the panel has always encouraged the Genomics England team to look at its boots while shooting for the moon. I really like that phrase just to make sure, look, we can't forget where we've come from to make sure we're taking people on that journey" You can download the transcript or read it below. Adam: Welcome to Behind the Genes.  Rich: Our vision at Genomics England is a world where everyone can benefit from genomic healthcare, thinking about how we ensure the lessons we've learnt through our diverse data programme is embedded across all of our work.  So that word “everyone” applies to people in lots of different ways, different communities people come from, different socioeconomic backgrounds, making sure that equity is baked into all of our work.  And there's real opportunity for genomics to play a broader role than in rare conditions and in cancer, we're proud of the impact we're already having there, and we should really look to the future.  Adam: My name is Adam Clatworthy, and I'm the Vice-Chair for rare conditions on the Participant Panel at Genomics England.  On today's episode, I'm going to be joined by Rich Scott, CEO of Genomics England.  We're going to be taking a look back at the key milestones from 2024 for Genomics England, and really discussing our hopes and aspirations for the year ahead.  During this episode we'll also hear from some of our guests we've had on the show this year, who have helped shape our discussions and shared some of their most impactful moments and insights.  And if you'd like to listen to more like this, then please subscribe to Behind the Genes on your favourite podcast app.  So, with that, thanks for joining me, Rich, how are you doing?  Rich: I'm great, thanks for hosting today, I'm really excited about it.    Adam: So, Rich, it's been a pretty exciting year for you, you've taken on the CEO role at Genomics England full-time, so why don't you just start by telling us about how those first few months have been for you?  Rich: It's been a really exciting year, I think for us overall at Genomics England, and obviously personally taking on the CEO role, which is an enormous privilege.  I've been at Genomics England nine years, and I think both a privilege and a real responsibility to take on the role.  To think both about how we continue to honour the commitments we've given our participants and those we work with, and to think about the future, where we might go together, what evidence we need to generate, what our systems need to support.  So it's been great taking on the role, and thinking about that, both the present and the future, and there's been lots, as we'll talk about, there's been lots going on.  Adam: No, that's great.  And I must say for myself as well, I started the Vice-Chair role at a very similar time to you early in the year.  When I started, we were in the process of looking for our next Chair.  Obviously, we had Jillian and Rebecca, both standing down, after many years in the role.  They've been there from the start, really guiding the Panel through this amazingly successful period.  But for me, I've really enjoyed working in partnership with Helen, who is our Vice-Chair for cancer.  It's been a real partnership, in terms of filling in for that interim leadership role.  And we wanted to make sure that we weren't just caretakers, we were really continuing to be actively involved in a lot of the discussions that are happening with your colleagues across Genomics England.  Very much leading the Panel, and starting to have those important discussions around, where does the Panel go next?  And what's our strategy for the next two to three years?  What are the key areas that we can drive real value and impact, in line with your own milestones at Genomics England?    And, of course, I've just loved getting stuck into chairing the Panel meetings as well, for me, that's the best part, is really bringing together these amazingly diverse and passionate people.  With so many different personalities, lived experiences, and a combined passion for just taking this forward together, and making sure that the benefits of genomics really impact, and that's felt by the wider community itself.  So there's been lots of highlights to recognise this year, a real stand-out for me has to be the Genomics England Research Summit, from what I understand it was the most attended event to date.  And it was just so good to see that a lot of the Panel were front and centre across that event, sharing their stories, having a really active role, whether introducing speakers, or telling their own journeys as part of the Q&A sessions.   I myself was really privileged to be on stage with Baroness Nicola Blackwood, literally nine days after I officially started the role.  So it was great to just dive in at the deep end, get in front of an incredible audience, and just see that the broader Panel was front and centre of the event itself.  And it was just great to see how popular the event was, many more people coming to have a chat to us on the stand than would have found us before, so, all in all, a really big highlight for myself.  So, for you, Rich, are there any other highlights that you want to call out for this year?  Rich: And first to say, absolutely agree with the Research Summit being, you know, a highlight.  The diversity of the discussions that we had, it's one of the things we enjoy most about thinking about creating the summit, as you say, involving the participants very much at the centre.  Like, physically at the centre of the room, for people to come and talk to participants and hearing stories.  And then really seeing how over the years we can see the impact growing, and having talks, whether it's about individual findings, or big research studies.  So the final talk of the day was from Charlie Swanton.  He was talking about some really exciting work that his team have done in our National Genomics Research Library, making a really important discovery about extra chromosomal DNA in cancer, and that's now been published in Nature.  And then right next to him, we were having a policy talk from Sam, who's the CEO of NICE.  And you can see the range of things, the sorts of evidence, sorts of conversation, we need to have, so that was really fantastic.  I'd call out one discovery this year that maybe we'll come back to, and one other big highlight.  So I think the big discovery this year was the discovery of this piece of non-coding sequence in the genome called RNU4-2, which turns out to be pretty much the most common cause of developmental disorders that's been discovered.  And it's just so exciting to see that having been discovered in the National Genomics Research Library.  And then the news, the knowledge spread, across the world, and family support groups coming together to understand and learn more about what that means for them.  So that was, I think, the discovery over the years at Genomics England that's touched me most, seeing that story.  And I'd say for us, organisationally, another big highlight has been the launch of our newborns programme, the Generation Study.  So as lots of people listening will know, we've been actually thinking about what the questions underlying this study are for a good number of years, doing a lot of preparatory work.  Actually, before we even started, setting up public dialogue jointly with the National Screening Committee about what the public were keen to understand and the appetite for research in this area.  And then we've been spending several years designing the study, working with the NHS how to design, safely launch it, National Screening Committee involved all along, and working with patients and the public to design it.  And this year now launching the study at a public launch, just a couple of months ago, by the time people are listening to this, and at the time of recording, more than 2,000 families have joined the programme.    So really exciting, us exploring a really big question for genomics, about the use of whole genome sequencing in newborn babies.  Whether that should be offered to every baby at birth, primarily driven by that desire to do better for those children born with treatable conditions, where genetics, genomics, can be a way in to finding them, but doing that at the right pace, and very much in a research setting.  That's been a real, a moment, I think there's been so much work on the path to it, but it's right to sort of celebrate these staging posts on the way.  We're early in the programme, there's lots to do, lots to work through, lots of evidence that we'll accrue, but it's really exciting to be at that staging post.  Adam: No, absolutely, and from my side, I think seeing all of the media pick up for the Generation Study launch, you could really see the excitement in the wider kind of community.  Seeing it shared on social media, obviously those part of the 100,000 Genomes Project, seeing things like this.  It's like they can see the tangible outcomes of all the work that they've done as part of that initial project, and seeing how those learnings are then taken onto this new study.  So we'll now hear a clip from earlier in the year from Louise Fish, who is the former CEO of Genetic Alliance UK, who shares her thoughts on the potential of the Generation Study.  Louise: The Generation Study is looking at 200 conditions and whether it's possible to screen for them.  And for all of those 200 conditions, it's a really exciting opportunity to see if we can learn more.  Both about the potential to understand and develop treatments early, but also just about the chance to understand the natural history of that condition so much earlier than we do at the moment.  And I think that's it, it's that understanding the natural history of the condition really early, and understanding how a family can be helped, through all aspects of the condition, which is giving people most excitement I think, alongside the potential to develop treatments.  Adam: So now, let's look back at the priorities for Genomics England for 2025.  Now, Rich, would you like to just take us through some of the things you'll be focusing on next year?  Rich: Yes, one of the things that we've been doing this year, but also actually in the year before, is really looking to the future.  And saying, where might we be in terms of genomics really living up to the impact it could have, if we collectively, in the UK and working with international partners, sort of get things right?  And that's very much about balancing the realism of where we are, and the impact we're already having, and being proud of that, and then getting that same sort of ambition and realism casting to the future.  And I'd say, I think there are two really broad themes.  I think the first thing is, we're enormously proud of the impact we've had already for families with rare conditions, and people with cancer, and that impact will continue to grow in the coming years, in those areas.  And in the next few years, that's where the biggest impact of genomics will continue, and the rare disease programme we have thinking increasingly about how we support the generation of evidence and pathways that lead to rare therapies.    So building, getting better all the time at finding diagnoses, which is still a long journey we're on, and continuing that work.  Increasingly thinking about how we can support therapies, and in cancer, again, playing a better role in cancer, both by driving efficiency in diagnostics, and efficiency in identifying where therapies enabled by genomics can be targeted.  And we see lots of different examples of that, clinical trials is a big area where we hope to have more impact in the future, but also thinking about some of the novel therapies that are there, both for rare conditions, but also, for example, the cancer vaccines.  And I think we're uniquely placed in the UK, because of our partnership at Genomics England with the NHS, and the broader science ecosystem, to have that impact.  So that's the sort of like continuing very much where we are, but really pushing those boundaries.  And then also, if we look to the future, to say, what role could genomics play?  And we, as you know, our vision at Genomics England is a world that everyone can benefit from genomic healthcare, and I think that plays out in a couple of ways.  Firstly, thinking about how we ensure the lessons we've learnt through our diverse data programme is embedded across all of our work, so that word “everyone” applies to people in lots of different ways, different communities people come from, different socioeconomic backgrounds, making sure that equity is based into all of our work.  And then also, to say there's real opportunity for genomics to play a broader role than in rare conditions and in cancer, we're proud of the impact we're already having there, and we should really look to the future.  And as we set out where we think what evidence is needed and where we need to learn what the digital infrastructure that we build and others build, need to build that to support that, we look across a few different areas.  But really you can see genomics playing a role across the lifetime, in different places in different roles.   To pick one really powerful example is something people often refer to as pharmacogenomics.  Which is a medical term for what boils down to look at a person's DNA sequence, that's the genomics bit, and making decisions based on what drug to give them, what drugs to avoid, or perhaps what dose to drug to give them.  Based on, for example, the desire to avoid adverse drug reactions that people might be at high risk of, and you can identify that risk looking at the DNA.  That is one example of genomics playing a role in being increasingly sort of preventive, getting away from disease, getting upstream of disease arising, or harm arising.  And there are other opportunities in common disease as well, sort of casting forward to what that impact might be, and we feel that genomics could play a role, really broadly, across healthcare, in probably as many as half of all healthcare encounters.    But what we need to do over the coming years for that to potentially be the case is we need to build out the evidence, and we also need to understand what digital infrastructure we need, to make that a possibility.  So that the information is there in simple format, for patients and the public, for their GPs, for their pharmacist, for people in any speciality in hospital, not just sort of rare disease clinics or in cancer, as we are at the moment.  And so very much we're thinking about the programmes that we and others could run to ask some of those questions, to think about what we need to build out.  We feel that the UK's uniquely placed to develop that evidence, so that we can make the choices about how genomics is used, and so we can be ready to embed it.    And it really aligns with that shift that we see and we hear, for example, in government being talked about, when we're looking about sort of the shifts that the NHS sees as essential.  You know, increasingly preventive, increasingly digital, increasingly in the community, and that point of sort of getting upstream.  And genomics is going to be an important part of that.  And we at Genomics England are really excited about the role that we can play, whether it's through the digital infrastructure we build, whether it's the programmes that we run to develop the evidence.  Or whether it's through the ethics and the engagement work, the work with the Panel, and the work with the wider public, to understand how we might develop this evidence, what people are comfortable with, what the expectations are.  And I think that, pulling that together is complex, it's really exciting to think about how we do it.  I think we in the UK are uniquely placed to take advantage of that.  Adam: That's great, and I think the pharmacogenomics piece is fascinating.  I mean, you hear many stories of people having adverse reactions to certain medications, and you wouldn't even think it's something that may be linked to their genetic makeup.  It's so important that we take people along that journey, around what the benefits are, the ethics, to make sure that people really understand the journey that we're making and what the potential impact could be.  Whilst there's lots of amazing new areas to develop into, a key focus for us on the Panel is really continuing to demonstrate how the 100,000 Genomes Project participants continue to have an impact, and they're helping shape a lot of these developments.  So they generously donated their data, it not only helps Genomics England develop the systems and services that now benefit many families, but it also continues to drive that scientific and technological enhancement.  So it wasn't just about reaching that 100,000 genomes, that project was really the starting point, as it were, it's not the finish line, it laid the groundwork for a lot of these developments.  So it's about how do we focus on maximising the benefit for those participants over their lifetime, not just at that one point in time.    We know genomics is evolving so rapidly, what you can glean from a genome today is far more than what was possible in 2013.  And we know the Diagnostic Discovery team is continuing to analyse the data for participants in the project based on these new advances, the team led by Suzi (Walker), who's doing some amazing work there.  Using all the latest tools and enhancements, just to make sure that those participants are really benefiting from that learning.  So, we just need to make sure we stay close to that wider community, and just ensure they're not forgotten, that's really a key north star for us as the Panel.  And something that we've been pushing is better ways that we can help to communicate the ways that you're celebrating these successes, providing regular updates on research progress, offering personalised reports based on the latest findings.  And it's all about providing them with that hope.  Some people may never get a diagnosis, but it's about giving the hope that one day they might get that phone call out of the blue, so it's about giving the hope that those possibilities are out there for others.    So we're now going to shift gear onto hearing from Shaun Pye, who is the father of Joey.  She was diagnosed with DYRK1A syndrome, which is a rare chromosomal disorder, which causes a degree of developmental delay or learning difficulty, at the age of just thirteen.  In this podcast episode, Shaun and his wife Sarah told us of their journey to Joey's diagnosis, and how their role in writing the BBC television comedy drama series, There She Goes, has helped to shine a light on the rare condition community.  Shaun: Then the opportunity came along with 100,000 Genomes, and we signed up immediately.  And then that, they did that, and it was a few years before that went through the system, and then we had, out of the blue really, we were asked to go and see a geneticist, and we had no idea that this is what it was.  I honestly thought it was just a routine sort of, we've got a few more theories or something, and she just said, “We've found out what it is.”  And it's like, that moment is, well, we tried to describe it in the TV programme, but it is quite hard to describe what goes through your mind, when after thirteen and a half years somebody suddenly says, “Oh, by the way, that thing that happened with your daughter, we've worked out what it is.”  Adam: So here, Rich, did you want to provide some updates around future progress, particularly in diagnostic discovery and expanding the research?  Rich: When we're looking to the future, we're looking sort of in two areas.  How we can build the impact we're having today for families with rare conditions and cancer, and that very much includes the participants in our programmes, 100,000 Genomes, those through the NHS Genomic Medicine Service, who joined the National Genomic Research Library.  And we've seen, I think the number that I'm most proud of at Genomics England is that number of diagnostic discoveries returned to the NHS, which has just hit the 4,000 mark.  And for those less familiar with the terminology, essentially what that means is where either researchers or the internal team at Genomics England have identified changes in the genome data, that with new knowledge, often with a fine tooth comb, it's considered likely that that is the answer to the cause of the rare condition in that person in the programme.  So that's 4,000 of those returned to the NHS.    And that tells you a lot about where we are for families with rare conditions, and I think there's two points here.  The first one is, we've got a long way still to go to do what we want to for families with rare conditions.  I'm a doctor and still see families in my clinic once a month at Great Ormond Street, even with the incredible advances we've had over the last particularly 10or 15 years, with the changes in sequencing and analysis, we still find an answer for the minority of families.  So that number is growing, and we're really proud of how much better we've done, and there's a long way left to go.  And the really critical thing is designing a system which we're so lucky with in the UK here, where we can continue to learn.  And that's not just for learning for the knowledge of people who might encounter the health system in the future.  It's to learn for those people who've joined the National Genomics Research Library, who've already trusted us to be the custodians of their data, and to do better in the future.  And that's what our diagnostic discovery work really aims to do.  And sometimes that's about new gene discoveries.  So all the time new things are being discovered each year.  And if you look at the DNA code, if you like, boil it down very simply.  99% of it is what we call non-coding DNA, I'll come back to that, about 1% is the genes, which if you like are sort of the books in the library of the DNA, overall DNA code, that we understand relatively well how they're read by the body.  The bits in between, it's a bit of a funny, well-spaced out library this one, that's the 99%, actually we've had very little understanding of most of that code in between.  But we're beginning, and particularly this year, to gain an understanding of how we might interrogate some of those pieces.  And not all of the answers lie in that non-coding DNA, there's lots of answers still left in genes that we don't understand well.    But one of the examples I mentioned earlier, and in fact the thing, the single discovery I guess which I'm most proud of having happened in the National Genomic Research Library is this discovery of this non-coding region called RNU4-2.  Which is a funny, like technical series of letters and numbers, but basically it's a very small patch of the whole DNA code.  Where this year, scientists discovered actually about 60 patients in the families in the National Genomic Research Library where that was the cause of their child's developmental disorder.  Actually, that knowledge has really rapidly spread across the world.  So I actually saw on social media at the weekend, from one of the scientists involved in the discovery, that the family support group that's been set up for what they're calling ReNu syndrome, which I think is a lovely name in itself, speaks to that word hope that you mentioned, Adam.  There are now 248 members of that group, and that's how fast that knowledge spreads across the world.  And what we're doing is thinking how we can support those discoveries more broadly, and non-coding DNA is one of those areas where that growth is, but it's not the only one where we're looking to support things.  But it's so exciting, and I think it gives you a sense of the scale of progress that is left to make.  And I think a really important point is that remains a really important area of our focus, it's not about moving on and looking just to the future, but we need to keep working for the families who are already part of our programmes.    Adam: That's incredible, that 248 members in such a short space of time.  And I love the ReNu name for that, I agree, I think that's a fantastic way of positioning it.  Earlier this year, we heard from Lindsay Pearse, whose son Lars received a diagnosis through that groundbreaking discovery of the genetic change in the RNU4-2, or ReNu gene, which was made possible by whole genome sequencing.  She told us what the diagnosis meant for their family.  Lindsay: This feeling that, like, we've been on this deserted island for eight years, and now all of a sudden, you're sort of like looking around through the branches of the trees, and it's like, wait a minute, there are other people on this island.  And in this case, actually there's a lot more people on this island.  Yes, it's very exciting, it's validating, it gives us a lot of hope and, you know, it has been quite emotional too (laughter).  And also, a bit of an identity shift, because I spoke earlier about how being undiagnosed had become quite a big part of our identity, and so now that's kind of shifting a little bit, that we have this new diagnosis, and are part of a new community.  Adam: You talked about it there, Rich, I mean, it's been really seen as a success story for the whole genomics ecosystem, especially the speed at which it all came together.  From the conversations I had with some of the individuals that were involved in the study, from the date of seeing the first findings in the lab meeting to a polished pre-print going live, was exactly 47 days, which in science terms is less than a second.  So that's how they positioned it to me, incredible.  And you've just said there, they set up this support group earlier this year, and already got 248 members, which is incredible.  The impact on families is significant, the mother touched upon it there.  I mean, for many parents there is that relief that it wasn't something they did during pregnancy, but instead, it is a chance occurrence.  For some, this knowledge means that they can make important decisions, choosing to grow their family, for example.  And it really ends that diagnostic odyssey that many families face, providing answers and potentially ending unnecessary testing that their child is going through.  But I think, and I can talk from personal experience here, that the largest impact is really being able to connect with other families and building that community, you cannot really understate that.  If I look at our own experience of getting a CRELD1 diagnosis for our children, the first time we didn't feel alone was when we could find that community.  We can support each other, we can learn from each other's experiences, and really also drive forward further research into that condition through advocacy.  So, I remember seeing that post on the Facebook page, about that RNU4-2 discovery, and this was before I'd even started in the role at Genomics England on the Panel, but you could really feel that excitement and the relief that they had.  And they mentioned that the official paper only had 36 other people worldwide, they found this little Facebook group that they created with five families in, and in the space of, what, 6, 7 months, they're already at 248.  That's all people that understand what they're going through.  And it's really hard to describe, it's like finding your family that you've never met, people that understand, and they really get what you're going through.  And being able to share tips, advice, learnings, and things that everyone's going through at different stages in their child's life.  So, I really don't think you can talk highly enough of that, that community aspect, and that's just been amazing to see.  And, look, this new era of research into the role of non-coding RNA genes, it really may open more opportunities for diagnoses for patients, participants potentially leading to hopefully more breakthroughs in the year ahead.  So now we're going to move on to why it's so important to engage patients and participants in the genomics world.  So, we'll now hear a clip from Helen White, who is the Vice-Chair for cancer on the Participant Panel.  Now Helen and I have been working really closely together as Vice-Chairs in this interim leadership role, to really ensure that we continue advancing the Panel's strategic initiatives while we recruit that new Chair.  So it's been amazing learning and working with Helen.  In this clip, she discussed an important topic that's been very much top of mind of the Panel, which is the importance of involving the patients and public in genomics research.  Helen: I think, you know, as patients, members of the public, we're eager to get on and for change to happen and things to be better, but it's, yes, a big, big process.  But also, good to hear that you talk about it being a collaborative approach, it's not just Genomics England, it's the NHS, it's members of the public and patient voices, it's other organisations working in partnership.  Adam: Now I think we all recognise the importance of engaging patients and public to ensure diverse communities understand the benefits of genomics, and actively involving patients and participants in the research, to make sure that they're including the perspective of what matters most to them.   Rich: I mean, it goes back to the thing that we really see as central to the value that we at Genomics England can provide.  So we increasingly think of ourselves as a data and evidence engine for national scale genomics, and I think a really important to call out there is that evidence is broad.  And part of that evidence is about public expectations, public preferences, and patient preferences.  And if you think about the big things that we do and where we bring that value, and bring that data and evidence engine role, is, you know, firstly in the digital infrastructure that we build and the data that we hold and present to our various users.  Secondly, it's in the evidence that we distil from that, and very much thinking about part of that being evidence in and around, including that piece on what people expect, this isn't just about hard science and health economics, this is an equally if not more important part of that.  And then thirdly, it is the third area of our focus is on that engagement piece, because that's so fundamental.  And I think you and Helen called that out absolutely right, about that being, that's integral to the whole process, and it's the beginning of any programme you need to start with understanding what the big drivers are, what the expectations are, and doing this very much together.  That's one of the reasons we're so fortunate to have the Participant Panel we do, in our Newborns Programme the Panel have been an important part of that design from the outset.  It's also about broader engagement with different communities, people who currently don't engage with genomics, because they've had no need to, sort of understanding that piece.  And I think we've definitely seen over time in health data research, but also research more broadly, where it's quite easy for these things to be disconnected.  And that results in two things.  It results in research happening about interesting esoteric stuff, but not on the stuff that makes a difference for families.  And I think that's really important, because researchers need to be directed in the resource limited world towards the things that really make a difference.  So that's the first thing.  And the second thing is, it's very easy, with the best will in the world, for people to make wrong judgements about what people are or aren't content with, and you need therefore to be absolutely transparent about what the research is.  Be really clear about what those questions are, and let people challenge you, right from the outset, so that we can design research studies, but also, the system as a whole, together in a way that everyone has a say.  Not everyone has the same view, but how we can develop a system that takes into account those things and gets that balance right.  This is about making a difference to people's health outcomes, thinking about how we achieve that, while also balancing off all of the different views there are, is really important.  And that's at the heart of it.  And it can be scary, because it's right that there is that challenge out there.  And it's one of the things that I think we've learnt at Genomics England, how important it is to be really open to that challenge, and to do that piece really early in all of our work, and have it there baked into our governance as well, for example, the Participant Panel.  Adam: Absolutely, and I think you've summarised all the key areas there really well, in terms of the importance of that engagement.  And one other area I'd just like to pick up on is the impact it can have on the patients or the participants, simply by having that connection with the researcher, that's doing all of the amazing stuff that for some of us, it's really hard to comprehend.  But having that interaction and collaboration with them, it's so important in terms of, again, I go back to giving you that hope.  And a real highlight for me at the Genomics England Research Summit was when Hannah, one of the members of our Panel, she came running over to us and she was just beaming.  And she said, “Guys, you'll never guess what, I've just met the scientist who discovered my daughter's diagnosis in the NGRL.”  And you could see that she was so excited, you cannot understate the impacts that can have on them as a family.  Like having that interaction and that personal connection with the person that really in some ways kind of changed their lives, in terms of understanding more about what that could mean for their daughter growing up, and how they're managing the condition.  So, it's amazing when you can see those highlights and hopefully we'll see more of those.  And it's also really important that we get that diversity I think, as well, in that collaborative approach, just to make sure that it is equitable for all.  And that really brings us on nicely to the next topic, which is about how do we bridge the gap between those diverse communities, and make sure that we're reaching everyone as best as possible?  So we're now going to hear a clip from Sandra Igwe.  Sandra is a CEO and founder of the Motherhood Group, speaking about the Generation Study.  Now, Sandra spoke about the importance of building trust, and how it is vital to engage with a diverse group of communities in the design of research studies.  Sandra: Every community's different, and every patient is different as well.  And so that may require different focuses or different formats or different messengers for different groups.  And so we like to have people with lived experience from the community representing that, and also driving the uptake of consent as well.  But failing to engage diverse voices can lead to perpetuating inequalities in access and uptake.  So it's really important to have representation, because the lack of it in research can overlook communities' specific concerns and needs.  Adam: So, Rich, did you want to talk about why it's so important to have that diversity?  Rich: Yes, I mean, it's critical.  One, I mentioned earlier, our vision as an organisation is a world where everyone benefits from genomic healthcare, and that word “everyone” really resonates.  I think Sandra has been really an important part of the work that we've done over the last couple of years, particularly through our Diverse Data programme.  But I think one of the real challenges for us is how we make sure that that is something which is embedded across all of our work.  And that's something that we're really focused on at the moment, how we embed the learnings that we've had through that standalone Diverse Data programme into everything we do.  Because we're absolutely committed to that, and I think that is engagement with the diversity of different groups relevant to each programme.  I think one of the real important things is that transparency piece about actually that it's hard to achieve equity in healthcare, full stop, because of historical underinvestment in some of these areas.  And I think being clear with people about that is a really important step, and then talking really practically about why it really makes sense to take different approaches.  And so one thing about our programmes and how we think about the future overall, if genomics is going to make a difference to more than half of healthcare encounters, it needs to be something that across all communities, and across the large majority of people in each of those, that this is something that they want to be part of.  Because it's going to make a difference for them or their families or something they really buy into.  And that's why this isn't just about thinking only about specific programmes where this is a question, it's about making sure that we're designing a system, developing the evidence that is really broadly applicable, and continues to learn.  Because we know that what we learn today is hopefully an improvement on where we are, but we continue to learn and learn and learn.  And it's about creating a system that does that, and does that equitably, or as equitably as we can.  Adam: So we're now going to hear from Moestak Hussein, who works to build and embed cohesion, inclusion, and social justice, in her role at Bristol City Council, in public health and communities.  Moestak talks about the value of co-production, and how this can help to build trust with communities who have historically been underserved or mistreated.  Moestak: If we talk about co-production, true co-production is really creating a power balance where there's no hierarchy, it's an empowering model.  It empowers both the researchers or the person that comes in, but also the communities that participate, and you all start on the same level, on the same outcomes and the same goals and aims that you want to achieve.  Adam: So, if I look at that from our perspective on the Panel, I think co-production in genomics research, so using participant data in the NGRL, is certainly what we'd like to see much more of.  To ensure that research is not only relevant to its intended audience, but also aligns with broader democratic principles of citizenship, accountability, and that transparency as well.  But look, we have to be realistic.  Some genomics research projects are not going to lend themselves to meaningful patient and public involvement in the early stages, but it's really important later on in the research pathway, if the findings identify a patient population who might benefit from that research.  At the moment, involvement of patients and participants, carers in research, is really not great, in terms of the researchers using the NGRL.  So, in conversations what we're hearing is they're saying, “Well, we don't know how to do it, we don't know what steps we should take.”  Or “We don't think it's relevant because we do this particular research.”    But really, our view is that some PPIE, or patient and public involvement engagement is better than none.  Some may not be relevant for all stages of the research pathway, we're not really seeing enough of that happening at the moment, and some papers are even being published without any context of the participants' lived experience at all.  Which can actually be quite frustrating, if you're that patient or parent, and you see a paper published, and you think, well, actually, why didn't they reach out to us?  Just to understand a bit about the symptoms that we're experiencing, what are the challenges that we're facing, just to really add that important context.  So, I think there's certainly an opportunity for us on the Panel, certainly for Genomics England, to be that kind of guiding light for those researchers.  Whether it's providing them with researchers, research papers, or a hub of patient advocacy organisations that are already connecting those patients with researchers.  It's all about signposting them the relevant information, so I think there's certainly things we can do there.  And it really fits in with the bigger engagement piece.  So, whether there's a landing page or a dedicated website that shows them, where do they go, what are the steps that they can take, what's the best practice, what's worked well for another researcher, and how did that lead to really great outcomes for the families involved?  That's where I think we can all play a part in guiding them on that journey, rather than it just being a case of, they're not doing that patient and participant engagement very well, and kind of criticising it.  Let's reach out to them and say, “Look, we can help you and guide you on that journey.”  Rich: I really agree with the need to make those connections happen.  One of the things I think that is often missing is just a confidence just to crack on and do some of this stuff.  And I think, actually, looking at the ReNu syndrome experience, that was work that was swiftly done.  Scientific at the beginning, the initial publication put out there so that people could understand, and was quite medical by necessity, in terms of the speed of getting information out there.  And then very quickly, and quite organically, patient support groups have formed, and also, the scientists are working with that group.  I had a really interesting conversation with Sarah Wynn, who's the CEO of the Unique last week, about how some of that has played out, how the role they've played in facilitating some of that.  And some of it just comes down to sort of really simple things, and working through how you can set up Zoom or whatever meeting, for people to learn about the condition.  And how you preserve anonymity, where that's appropriate, but also allow people to have discussions about their loved ones where they want to, etc.  So it's partly just about giving people the space and the confidence to get on with some of these things.  And as you say our, one of the things we at Genomics England are quite thoughtful about, and I think it's a really good topic to continue talking to the Panel about, is how we get that balance right.  Where, actually, us being a connector and, as you say, signposting useful resources or ways of doing these things, just to break down some of those barriers.  Because almost always the research groups, when they discover something new, this is really new territory for them, and they're often nervous about doing the wrong thing.  And so it's about breaking down some of that anxiety actually I think.  Adam: Yes, absolutely.  In our case, with our condition that we're advocating for our son, we've been working with a researcher.  And it's almost on us as well just to kind of share our story with them, and making them feel more comfortable to ask us questions and be very open and transparent about the more we can share, the more that can hopefully benefit their research moving forward.  It's very much a two-way thing as well, but I like what you said there about having the confidence just to kind of reach out and start those conversations, and have that starting point.  Next topic, we're going to look at some of the innovations that are on the horizon, that we're seeing in the world of genomics.  So, Rich, do you want to take us through what are the most exciting things that you're exploring at the moment?  I know we hear a lot about AI and the technological aspect, so why don't you take us through some of those?  Rich: Yes, so I guess this comes back to that question where we've been looking forward, you know, where might genomics be impactful and making a real difference to people's lives, to helping us have a more efficient healthcare system in the future?  And I think part of that is about this general shift.  You know, genomics technology, we just take for granted now how much it's shifted, how it's within the means of the healthcare system to generate genomic data.  And we're really fortunate in this country because of the digital infrastructure that we've been able to build together with the NHS, that opens up a lot of these questions.  And it's just extraordinary the time we're at in genomics, so almost take those two things for granted, which we should never do.  The change in genomic testing technology, which continues to advance, and secondly, thinking about the digital infrastructure, like the nuts and bolts of what we've got, and the ability to safely store and reuse and analyse some of that data at scale.  And point at two big things.  Firstly, genomics enabled therapies are changing a lot.  So, our understanding, our ability to make a diagnosis, or understand what's different about a cancer, for example, mean that in various ways it's becoming feasible to do more tailored therapies.  Where knowing that, the genomics nitty-gritty of that condition, helps you tailor that, or create sometimes even a bespoke personalised, truly for that one individual, therapy.  And in rare conditions we see that with the so-called N=1 therapies, but also with gene therapies and so forth.  And in cancer we see that with the cancer vaccines, for example.  So that's an enormous area of change, and one of our responsibilities is to support that sort of research, to help identify people who might be eligible for trials or treatments.  But it's also to work with the ecosystem to think about how we can help support the generation of evidence that means that those therapies can be affordable and so forth, on a scalable basis.  So that's one really big area of excitement.  And we see our Rare Therapies Launch Pad being part of that, the National Cancer Vaccine Launch Pad, being part of that.  So that's thing one.  Thing two is AI and machine learning, and I think sat on alongside the sort of broader picture of saying, there's a lot left to learn, there's enormous potential in genomics in terms of playing a role in many different situations, not just in rare conditions, in cancer.  And we know doing that well, but also scaling it, making it really efficient, so that we can do that in a context of a really busy health service, one of the answers is making sure that we're leveraging everything we can about the potential of AI.  And there's lots of different ways in which that can be supportive, I won't list lots of them.  But one of the things that we're doing at Genomics England and working with the NHS is thinking about the most promising areas.  And some of those are quite, like, down and dirty, if you like, so sort of saying, which jobs are there that we can use AI, if you like, as a co-pilot, alongside experienced scientists, to speed up their work?  And we're really excited about the role we can play in a few ways actually.  So the first one, back to that sort of data and evidence engine point, is helping organisations who have a tool, help validate it for use in the NHS, and say, “Does it perform to this standard?  What do we want to say about how it performs from an equity point of view?  And from a clinical safety point of view?” etc.  And making that leap from stuff that makes a Nature paper to stuff that lands in clinic is surprisingly challenging, and that's one of our roles.  And we really enjoyed working with various companies and academics over the last few years on that.  We did some work recently with Google DeepMind, on their AlphaMissense tool, thinking about how we can think about that role that might play, for example, in speeding up the interpretation of rare variants that might cause rare conditions.  And there's enormous potential in all sorts of different parts of the sort of end to end of genomics playing a role in healthcare.  And then I'd also say one of the really important things is because genomics in many ways just needs to be part of healthcare and not be treated differently, we also need to recognise where there are questions we need to work through really thoroughly that are a bit more bespoke.  And one of the things that we're really committed to doing, as we look to the future, is making sure that we can support on some of those questions that we really need to be clear on.  I'll go back to that point on, what do we mean about making sure we understand how a tool is working, and whether it's producing results in an equitable way for all different communities?  How do we understand that?  How do we explain what we understand about the performance of a tool?  How do we make sure that patient identifiable data remains non-identifiable if a tool's been built, trained on data?  Working through some of those questions.  But they're really important for us to do, and we're enormously excited about the potential, and we're really committed to working through in detail how we can make that path to adoption safely and in the way that everyone would expect and desire as rapid as possible.  We're just one step in that process.  But we really see a sort of important role for helping people who are producing various tools or various use cases, helping them prove them, helping them validate them, and making the system more efficient overall, but in ways that we really understand.  Adam: That's fantastic.  Look, not that I'm biased at all, but I can tell you that the AlphaMissense innovations that are being developed are shared a lot internally at Google, it has been seen as an amazing success case.  So hopefully we'll see more on that moving forward.  But in the next clip, we're going to hear from Francisco.  So Francisco is the Director of Bioinformatics at Genomics England, who tells us more about the application of AI and its benefits in genomics in healthcare.  Francisco: So AI is already driving the development of personalised medicine for both research and healthcare purposes.  Now at Genomics England we are investigating the use of AI to support a number of tasks, for the potential impact in both research and healthcare.  In the context of healthcare, we are talking about AI tools that can support the prioritisation, the ranking of genomic variants to allow clinicians to make more accurate and faster diagnosis.  Adam: While all of these innovations sound really exciting, it's really important that we just continue to bring that patient and participant community on that journey, just to ensure that they really understand the full benefits, and we talked about that on the episode today.  I know that the panel has always encouraged Genomics England team to look at its boots while shooting for the moon.  I really like that phrase, just to make sure, look, we can't forget where we've come from to make sure we're taking people on that journey.  So, we're going to wrap up there.  Thank you to Rich Scott for joining me today, as we reflected on key milestones for 2024, and looked at the year ahead for both Genomics England and the wider genomic ecosystem.  If you enjoyed today's episode, we'd love your support.  Please like, share and rate us on wherever you listen to your podcasts.  I've been your host, Adam Clatworthy, this podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand.  Thank you everyone for listening. 

For this very special episode we've been working with Great Ormond Street Hospital Charity, which is currently in the middle of its biggest-ever fundraising appeal to build a world-leading cancer centre at Great Ormond Street Hospital.And no-one understands the significance of this appeal more than this week's amazing guest Shaima, whose daughter Tia was diagnosed with a rare type of cancer when she was just 4 years old. Tia is now 12 and doing well at home, but has spent over half of her life in hospital.Shaima sits down with Gi for a very candid conversation about her journey with Tia's cancer treatment and why places like Great Ormond Street Hospital need our support.Trigger warning: this episode contains discussions about cancer. If you feel this may be a difficult listen, please choose another episode. Hosted on Acast. See acast.com/privacy for more information.

Introducing the next Voice from the 100 Scars of Gold campaign; the wonderfully optimistic and bubbly soul that is Kathryn H. Kathryn's story is another incredible story of how someone has overcome facing their mortality at a young age and finding a way to live life to the fullest.Kathryn has only ever known what it is to live with a chronic condition, having started her journey as a patient at just 18 months old when an unfortunate accident left her with severe burns and in hospital for 3 months needing skin grafts down one leg. Then at the age of 8 was eventually diagnosed with a severe autoimmune condition Autoimmune Haemolytic Anaemia, seeing her as a familiar resident at Great Ormond Street needing regular blood transfusions before eventually needing a Splenectomy at the age of 19. Then after a missed miscarriage, finally giving birth to her wonderful daughter, it was whilst breast feeding Kathryn discovered a breast lump. After being diagnosed with triple negative cancer, and initially responding well to treatment, just shy of 3 years later Kathryn was confirmed to have secondary cancer in her throat.For two years now Kathryn has lived with the knowledge her secondary cancer is incurable, and has gone through the inevitable journey of trying to process this. She shares with us how she truly embraces life wherever she can with a living list for herself, a horse living list and a living list for her daughter. Kathryn shares the key messages of where she finds strength, how she takes back control whilst facing her prognosis and how having an holistic approach to her wellbeing, embracing nature and 'loving the miracle of life itself' brings her joy. Another wonderful soul sharing some relatable and invaluable lessons, thank you to Kathryn for sharing her story.Mortal and Strong is a registered charity and presenting our debut campaign Scars of Gold™️. A campaign using art to shine the spotlight on women facing their own mortality - those affected at a young age by a life changing illness or disease but sharing messages of hope and strength. Founded by Dr Liz Murray @lizmurrayart For more information on support available for these issues discussed in todays episode, including direction to medical information, visit our website. This episode is not intended as specific medical advice, always see your own GP/physician if you have any concerns regarding your own health. #mortalandstrong #scarsofgold #kintsugi #art #artist #doctor #charity #campaign #womenshealth #cancer #nonhodgkinslymphoma #thyroidcancer #breastcancer #stemcelltransplant #lupus #autoimmunedisease #ms #fibroids #endometriosis #adenomyosis #miscarriage #ectopicpregnancy #infertility #menopause #mastectomy #opticneuritis #disability #trauma #sepsis #hysterectomy Hosted on Acast. See acast.com/privacy for more information.

Genomics has changed considerably over the past 10 years, and we are now exploring how to integrate it into routine healthcare. In this episode, our guests reflect on this evolution and discuss how the key learnings from the past 10 years can shape the genomics ecosystem of the future. They highlight the importance of partnership across teams, organisations and participants, emphasising the importance of keeping participant and patient benefit at the heart of research, whilst also addressing the ethical and safe storage of patient data. In this episode, our host, Helen White, who is the Participant Panel Vice-Chair for cancer at Genomics England, speaks with Dr Rich Scott, CEO of Genomics England.   "Our goal is to ensure that everyone can benefit from the advancements in genomics, but this requires collaboration across disciplines and a commitment to ethical practices in managing and sharing genomic data."   You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/How_can_we_work_in_partnership_towards_a_new_era_of_genomic_medicine_and_research.docx Helen: Welcome to Behind the Genes.  Rich: There's a whole new era I see coming in terms of the therapies that are directed at the causes of genomic conditions, both in rare conditions and in cancer, and thinking as we do that, about how we structure the system to generate evidence, and to respond to it, and have a conversation about what the right balance of evidence for patients to make a choice about their own care.  Helen: My name is Helen White and I am the Participant Panel Vice Chair for Cancer, at Genomics England. On today's episode I'm joined by Dr Richard Scott, Chief Executive Officer for Genomics England. And today we'll be discussing Richard's recent appointment as CEO, lessons learnt from the last ten years in the evolution of genomics in healthcare, and how these learnings will be taken forward in the next ten years. And we'll also visit the importance of keeping participant and patient benefit at the heart of research, as well as the ethical and safe storage of patient data. If you enjoy today's episode we would love your support: please like, share and rate us on wherever you listen to your podcast.   Before we dive into the interview with Rich, I wanted to take a moment to share my story and tell you a little bit about myself. I have been a member of the Participant Panel at Genomics England since 2018. It was the year before that when I was diagnosed with endometrial, or womb cancer, and was offered the chance to join the 100,000 Genomes Project, which felt like something positive at what was otherwise quite a scary time. It turns out that I have something called Lynch syndrome, that's a genetic condition that increases my chance of developing certain cancers, particularly womb and bowel cancer, which is actually a really useful thing to know as there are things I can do to reduce my chance of getting cancer; things like having regular colonoscopies and taking daily aspirin. I have now been on the participant panel for six years and one year ago I was appointed as Vice Chair for cancer. This is a new and developing role and I am excited to have so far helped recruit more people with lived experience of cancer to the panel and to be assisting Genomics England with connecting to organisations that advocate for people whose lives have been touched by cancer.   So that's enough about me. I am delighted to be joined today by Richard Scott, and I am very much looking forward to our conversation. Welcome, Rich.   Thank you. So Rich, you've recently been appointed CEO of Genomics England. Can you tell me a bit about your background and what brought you to this role?   Rich: It's a really good question and it's one that doesn't have a really very simple answer. I guess what it boils down to is I guess I've always had an interest, even as a child, for whatever reason, in genetics and genomics. I have also then always been drawn to things where I can have an impact and particularly the impact in healthcare and that's what took me to being a medical student. And I guess it's that combination of that particular interest in genetics and being able to see, even when I was at medical school I qualified in 2000 that this was an area of medicine that was going to be really important in the future. And then as I trained, as I did a PhD and as I saw the technology develop and change and then when I saw the UK government and the NHS investing in genomics in a really foresighted way, I found myself eight or nine years sitting at Great Ormond Street as a consultant in clinical genetics where I still practice, I still do one clinic a month there as a clinical genetics consultant seeing families with rare conditions.   But I could see when Genomics England was established that this was something, as I said, really foresightful where we could really collectively across the country make more of a difference together in terms of patient and healthcare outcomes. So I joined GEL eight or nine years ago initially in a subject matter expert role, and really found myself the more time it passed, understanding how working in my role at GEL and helping GEL be a really productive part of what is a busy genomics healthcare ecosystem in the UK, we can make a big difference, and that's the thing that just wakes me up in the morning, is realising how much there is left to do, being proud of the stuff we've done, the difference we've made to participants in our programmes already, but realising that many of those still need our support to do better and the big distance left to go before we really deliver on I think the long-term promise of genomics, and I feel my mixture of skills and experience make me really excited to be in the middle of that.   Helen: Thank you. Yes, it sounds like you've brought many skills and experience, and interesting to hear that as a child you already had that interest in genetics and where that's taken you. Can you tell me what being CEO Genomics England means for you? What are your aspirations for your first year in this position?   Rich: Well, I guess, as you can tell, I'm really excited to take on this role. As I said, as a doctor I'm always focused on the impact for patients and our participants and ultimately it's the broader health of the nation. And the role I see Genomics England playing and being able to play in the future, sort of building on that, the leadership position the UK's always had in genomics – you know if you look back to the discovery of the structure of DNA, the invention of sequencing technologies and also the clinical implementation coming from that government investment and the NHS investment, what excites me most about GEL is that we can be there, playing a critical role alongside others in that ecosystem, whether that's in the NHS, whether it's our participants and the patients who we're aiming to support academia and industry, to create a whole that's greater than the sum of the parts, and I genuinely feel that the UK remains uniquely placed to live out that potential that genomics has, engaging in the questions, not just you know, the scientific questions of: what could genomics test for? Or, how could this be implemented and is it cost-effective?  But also being able to have the nuanced conversation of what we all and our participants in the public and general, expect in terms of the care we receive or how our data is looked after, and getting that really balanced view on how we chart a path forwards where we can really see big differences being made in the future, and I think always being honest to ourselves about where we are today and that things don't come in spotting some position a long time in the future that we want to navigate to, but also being really focused on the here and now and what is possible and what is evidenced, and what the next set of evidence or discussions or conversations in the public we need to have to help navigate ourselves there and that's where at the moment our focus at Genomics England is both being very clear sighted on where Genomics could go, and also thinking very clearly about where we are today, and so very much at the moment for us it's about focusing on the life service we offer to the NHS and we're really proud to be part of a world-leading whole genome sequencing service, the first national health service in the world to be providing that in the context of cancer and rare disease, and so offering and providing our service that contributes to that.   Supporting researchers so that we can keep the flow of discoveries coming and also for example, making sure that our participants in existing programmes continue to get new answers as the science evolves. So, the last year more than 2,000 families had new findings fed back because of new knowledge that's accumulating, keeping that flow going. And then we've got three big research initiatives going on at the moment where we're really focusing on delivering around them. We've got a diverse data initiative where we're really focused on making sure the research library, the National Genomic Research Library, our participants are representative of the UK population, so the discoveries that we're supporting are relevant to everyone; our cancer initiative which is exploring the use of new sequencing technology in the context of cancer, and also looking at the use of image data and other modalities of data, alongside generic data to drive new discoveries.   And then the third initiative is our newborn genomes programme, where we're asking a big question through a research study to generate evidence to ultimately answer the question: should every baby when they're born be offered whole genome sequencing? Most pressingly to improve and broader the range of conditions that we can look for that are severe and treatable. So, this year we're very much focused on delivering on those promises that we've made to our participants and our partners and through those programmes and very much with an eye to the future thinking about what we need to change in terms of the use of underpinning technology, so that we know that we've got the potential to scale, to think about the broader use of genomics in years to come as evidence evolves.   Helen: So Rich, there have been many advances in genomics in the last ten years. What do you think are the big lessons from those last ten years, and what do you think the next ten years will look like for the genomics ecosystem, what impact will this all have on healthcare as we know it?   Rich: So, genomics has changed extraordinarily in the last ten years thanks to shifts both in the technology, particularly the sequencing technology but also some of the computing technology that's there to deal with the scale of data. Ten years ago we were talking about the 100,000 genomes project and beginning the project itself, but it was still very early in the use of whole genome sequencing, that's gone from something where the big question around the 100,000 genomes project was: can this technology be used in routine care in cancer and for rare conditions, and if so, how do we do that?   And we've learnt both I think about that specific question and as I mentioned, we're enormously proud to be part of enabling the NHS whole genome sequencing clinical service, so that has entered routine care. I think along the way the biggest lesson for me is actually one about this being about partnership and about working as a team across many different organisations and with our participants, and recognising that this isn't just about one set of questions, or it's not just about clinical or scientific questions, it's about joining everything up together back to that point around, so a discussion about what people expect – this is about doing stuff together and learning often quite complex lessons about practicalities is one things, for example, one of the really big lessons we learnt around the use of whole genome sequencing in cancer are just practical lessons about handling of tissue samples and the need to make sure the right fridges are available on the right corridor of a hospital, with plugs available to plug them into, through to questions around, as I say, people's expectations around how their data is stored, which it's used for, which again there's really strong precedent for, and as we explored, different uses of genomic technology, we shouldn't just take those previous answers for granted, we need to make sure we validate and check with people what their expectations are.   So I think that's the big one for me is sort of the number of different angles with which one explores questions and the fact that this is very much about doing it together. I think just one other piece which is so easy for us here to take for granted is that doing things at national scale with national scale investment from government, from other funders and from the NHS is absolutely critical and when you look across the world, we are in an extraordinarily privileged position here in this country because of that investment and because that investment recognises the need critically to join clinical care and research in a whole, where you recognise that you're doing multiple things at once, but joining them up rather than them being two worlds, is really, really critical, and we're really lucky to be able to do that at national scale.   So then thinking about what the next ten years might look like for the genomics ecosystem, I think lots of those things continue, so I think national scale and the need for ongoing investment to keep up our position at the forefront in terms of answering these big questions about the use of genomics in healthcare, and to where the evidence supports their implementation to roll them out and keep that link there between healthcare and research, and so making sure the systems talk to each other and I mean that in a digital sense as well as a human sense is absolutely critical.   And then, so in ten years' time what are the areas of healthcare that will have been impacted, or could have been impacted by genomics, I'm really pleased that we're doing a better job for families with rare conditions and people with cancer than we were ten years ago, I think there's a long distance left to run even in those settings for us to do better and to continue to learn, so we expect our major focus to continue to be in those areas where we know they can have an impact and there's more to do. We also then have the different areas where if the evidence pans out to support the use of genomics or if we can implement systems that can support it there can be a big sort of area of growth. For example, our newborn genomes programme is asking questions and developing evidence so that in the future policymakers can decide should that become part of routine care, and I think that's something that could have become part of routine care in the next ten years if the evidence supports it and if that's something that the public support.    If I were to pick one other area where there's a real potential for growth in the coming handful of years it's in something we refer to as pharmacogenomics. What that means is looking at your DNA code (genomics) to help make decisions about prescription of medicines and sometimes that's about avoiding these medicines in people who are at a higher risk of having an adverse reaction, or it's about tailoring the dose because of something about for example the way the person metabolises, chews up, the medicine and so can influence how much dose they need. That actually has an enormous potential; we all have variations in our DNA code that influence how we respond to or metabolise medicines. If you look across primary care, GPs and so forth, primary care physicians and in secondary care, hospital care, I think there's good evidence that actually probably half of all appointments, interactions in those settings, if you were to have DNA data available that could influence how prescription choices are made; sometimes that's about knowing that you're doing the right thing, giving the normal prescription, but sometimes it's about modifying it, that's an area where I think there's a real potential for growth and that's an area that the NHS also really recognise and we're exploring ways in which we might look into that and think about how that might be implemented, because actually a lot of the questions there are about how you make sure the right data, the right information is available to clinical teams and patients at the time that prescriptions are being made.   There's also real potential more broadly in thinking about more common disease settings, there's lots of work going on from various research studies looking at the value of what people sometimes refer to as polygenic risk scores or integrated risk scores, where we use genomics as an element of estimating risk for common diseases like heart disease or cancer, that's something where the evidence is being worked on and is developing, I think we'll see a lot of evidence come out in the coming years and I think that will then influence how we implement genomics to help as part of that risk estimation process, which is routine now in GP practices where you go for an NHS health-check they do it with lots of complicated stuff, at the moment not genomics, and we'll see how that plays out in the years to come.   So I think there's enormous room for growth where genomics where at the moment it's making an important difference to people with certain conditions that we can do better on. In the future I see it becoming very much more part of the routine day to day of healthcare. As we make that transition there's lots to work through about the evidence, the order in which that's done and the way in which we, for example, store data, and make people part of the choice about how their data is used and what I'm really excited about in Genomics England is the role we play in the middle of that, bringing our particular expertise around what we call bioinformatics, which is sort of managing genomic data at big scale, particularly national scale to support healthcare and research, generating evidence that can help inform policy, and also critically drawing things together into the conversation amongst different players in the ecosystem and participants in the public so that we can not just think about evidence in a sort of terribly scientific way but we think about it in the round.   Helen: That's really interesting to hear you speak a lot about getting that evidence because that's critical, but that takes a long time doesn't it, so for example with the generation study, the newborn study it's really important to measure the benefits of that if you're testing young babies, newborn babies for diseases that if you pick up a condition that condition can be treated and something can be done about it early rather than poor parents going through this diagnostic odyssey, but also it's that balance isn't it with not leading to any harm, so if a number of parents come out of that thinking their baby might get a condition and it never happens there's potential there isn't there. But I think in terms of the public understanding of how long it takes to get evidence and everything else that needs to go on in the background I don't think it's always particularly clear that that's a massive process that has to be gone through and there's a lot of work going on behind the scenes – you can't just do these things.   I think as patients/members of the public we're eager to get on and for change to happen and things to be better but it's a big, big process, but also good to hear that you talk about it being a collaborative approach, it's not just Genomics England, it's the NHS, it's members of the public and patient voices, it's other organisations working in partnership, it's a big undertaking.   Rich: No, it is and I think that one of the words you used there was impatience, and I think that's healthy and important to recognise, it can be easy, particularly for example as a doctor, sat in a clinic room to accept the status quo, and at the same time, one needs to recognise the complexity of the questions, the balance, the need to generate high-quality evidence to inform those opinions and I think combining both that sort of impatience and dissatisfaction with the status quo, and that mind-set about thinking really thoroughly and collaboratively about the right evidence that is needed to change policy.   Helen: Yes, really important that those patient voices are there from the beginning, from the planning of obtaining this evidence and that you're measuring the things that matter most.   Rich: One of the areas where I think we've seen that play out, another area where I really see the potential for growth in the future is much more genomics-enabled treatments. We and you and the participant panel have helped us think about there's a whole new era I see coming in terms of the therapies that are directed at the causes of genomic conditions, both in rare conditions and in cancer and thinking as we do that about how we structure the system to generate evidence and to respond to it and have a conversation about what the right balance of evidence for patients to make a choice about their own care, but also policymakers to make choices about funding, decisions and safety decisions, is really important and we've been supporting to a wider work in cancer in the UK called the Cancer Vaccine Launchpad, and likewise we're part of something we call the Rare Therapies Launchpad, where in those two areas we're exploring that, and that's another area I think of real potential in the coming years, and also real nuance as we construct a way of navigating that together and making the most of the potential, but not just sort of rushing in and pretending we know all of the answers at the outset.   Helen: And those launchpads are of particular interest to participants in the wider patient population, there are a lot of people and children with rare, ultra-rare conditions who are desperate for treatments that just aren't available right now, equally for cancer patients there's a big need isn't there for more effective treatments, fewer side effects, that target that person's particular cancer, so it's good news I think for the wider public.   It does seem that innovation and partnerships are crucial to Genomics England's activities so how does Genomics England ensure that participant and wider patient benefit are at the heart of these activities?   Rich: I think one of the really important things is actually governance is sometimes a boring word, sounds like it, but I think thinking about how we've structured the organisation and placed you, as the participant panel, as part of our governance to make sure that when we're thinking about for example access to data in the National Genomic Research Library, participants are sort of driving those decisions, it's an independent committee that makes those decisions with representation from our panel. One of the things is thinking about the governance and making sure that you as our participant panel hold us to account for the decisions that we're making, which I think is really critical.  I think then also as we've learnt a lot over the years, not always getting it right, about how we make sure that participants, or potential participants in the public are involved from the outset in the design of programmes because it always helps. I think certainly before I joined Genomics England I think I would have been unsure about the best ways of going about that and that brings with it sometimes a nervousness. I think the main advice I would say to people listening is to have confidence that just getting stuck in and have conversations is the way to do it. There are then also all sorts of expertise that we've really benefited from being to bear in terms of ways of doing that engagement work and that will come; the first thing is to have the confidence and the desire to put that at the centre of how you decide where your focus should be and how you design programmes.   Helen: I think Genomics England has been very successful with that by integrating that patient voice from the very early days and here we are what eight years on I think now, and yes, hopefully we'll be there for some time to come yet, as long as Genomics England exists. So Rich, with more and more health data being stored, how do we ensure that this sensitive personal data is stored and used safely and ethically across the genomics ecosystem. And actually while we're on this question, can you just explain what genomics ecosystem means, because we use that term I think quite a lot, but I think it's not necessarily understandable to the wider public? Rich: What I mean when I talk about it is I mean the mixture of different people, whether that's sometimes organisations, us, Genomics England, the NHS, the NIHR, National Institute for Health Research; industry partners whether they're people who are from pharma companies or from biotech, academic researchers, participants in programmes – everyone who comes together to work on genomics in the UK and a bit like the word as it's used in biology, it's a sort of busy ecosystem with all sorts of people playing their own role and then working together, and so I think it's a really important thing to recognise that we're part of that and in fact it's one of the things I love most about my role at Genomics England is thinking about all of the different partners that we need to work with and to those outside it I think it can also be a bit intimidating, because it's hard to keep up with who on earth everyone is. So then thinking about the question of how we make sure that data's stored and looked after and used in the ways that people expect and safely and so forth, I think that's absolutely at the heart of my role and our role. And I think one thing is actually always sort of starting at the: why are we doing this? What benefits are we seeking to bring to people? Is that what they expect? What have they signed up for if you like? But that's in a research study or when they've decided to say yes to having a particular test, which is the same in any part of medicine. And if we use that to drive our decisions, that's what's so critical. And so that's where thinking about programmes we run, and also the things that we think might be worth something that we should prioritise in the future is always first driven by the benefit that you might be bringing, weighing up the costs and the potential downsides and harm that might be caused by the use of genomic data in that way and that's what should always drive things, and there isn't a one-size-fits-all, you know, genomic data should be used and stored in this way and that's one of the things that I think making sure that participants and the public are at the centre of the conversation is absolutely critical, it turns out that genomic data is very much like health data at large in many senses and it's very precious for those reasons. It is also special in a few ways. One of the ways that's sort of peculiar if you like is that pretty much the DNA sequence, the genome, that you're born with, is the same one that you hold throughout your life, that's different from say if you do a blood count or something that varies for various reasons over your life and most things in medicine do change quite meaningfully over a much shorter time period. One of the things about the DNA code: A) it makes it more precious because it's very much about you, your whole life; also it makes it more useful and reuseable in many ways, so one of the things that we think about a lot more in genomics is about the storage and reuse of data on an ongoing basis through the lifetime. And I do think that that model in certain settings and potentially more broadly as evidence accumulates, may well be the path that we take forward where you consider your genomic data part of your health record where it can be used and reused. And what we need to do is explore why you would in the first case generate someone's DNA sequence, and what sort of sequence, is it a whole genome or less than a whole genome? What would you use it for in the first place when you first generate it? And what other uses could there be to support the healthcare and have you involved them or the public more generally in decisions about how it's used? Because we do, as I said, see the potential for genomics being just becoming part of the fabric if you like of healthcare, good healthcare, the best healthcare.   Linked to that is the point on research as well, like where people are happy for it, holding their genomic data and understanding how that impacts on longer term health outcomes, something we'll continue to learn about for years and years. So I think the first point is about focusing on the why and whose data it is, one's own genome belongs to you, it doesn't belong to anyone else, what people are happy with and consent to and expect and then always holding that in mind as one makes the choices is critical. I've talked about how we think the governance and the involvement of the participant panel is really critical for that as well. And then it also comes down to doing in various ways, the job that people would expect in terms of, for example, that safety piece, using the very latest tooling to make sure that it's held in a secure way, that it's backed up so that it won't be lost etc. and bringing sort of the right, very good minds around some of those more technical questions, but always with the expectations of the people whose genomes they are in mind and to say are we living up to their expectations, are we doing what they would expect?   So, Helen, I wondered if I could ask you a couple of questions. The first one I wanted to ask is what you're hopeful for in the coming years as a participant panel member?   Helen: Thank you. I've actually already posed these questions to some of the other panel members, so I'll try and make sure I include their responses here as well as mine, but I think it's important to hear from everybody, not just me, Rebecca Middleton and Emma Walters have recorded their responses as well. I think the four main things that panel members are hopeful for is the coming years, the first is equitable access to whole genome sequencing, basically everybody who needs whole genome sequencing should get access to it regardless of where they live, their income, ethnicity or disability, so that's something that we're hopeful will get better over the years.   We know this is essential to improving healthcare, to improving outcomes for patients and generally for sort of greater inclusivity and in genomic research, we want as well as Genomics England, the data is the National Genomics Research Library to be representative of the population as a whole, not just the people who 1) are offered, and 2) agree to have their data in the library. And also, obviously the more data that is held in that library, the more opportunity there is for research across those rare and ultra rare conditions and rare and less common cancers, where it's all about numbers, you need numbers of sets of data in order to draw things together and make conclusions to look for patterns.  And the other thing which I guess comes more under the umbrella of the NHS is that the panel is quite keen, they want everybody who's undergoing genomic testing to receive good support and after care, I think regardless of whether that testing is via the NHS or as part of a research study, sometimes it will be both, but that's for the patients at the coal face that is obviously critically important.  The second, I think broad theme, coming from the panel members' responses is that I think you've mentioned this already, is increased understanding of genomics amongst the general public is really important – there's a need to demystify genomics and to generally improve public awareness of its benefits and to get those conversations going around its regulation and its ethical use, but to do that you need to get meaningful engagement from a wide range of people, you know, that's not always straightforward, there are lots of challenges there, it's all about prioritising inclusivity, accessibility, to make sure you get diverse views and perspectives on genomics and on genomics research.   The other thing that came out very strongly from the responses which we have talked quite a bit about already is about this individualised healthcare. I think we as a panel are very hopeful that there will be this shift towards treatment strategies that are tailored more to the individual and their specific health condition, rather than a one-size-fits-all approach, we want effective treatments that will minimise side effects but also through the use of pharmacogenomics, to make sure if there's a risk of a severe, sometimes life-threatening side effect that that can be identified and that individual doesn't have that treatment either at all or has a lower dose, so it's not so toxic.   And let's hear from Emma who talks about this.  Emma: My hope is that we move to a truly individualised healthcare system and I'm really excited to see how in particular pharmacogenomics changes the healthcare landscape. For a long time we've gone with a one-size-fits-all approach, and that's easy to deliver on a large scale basis that the NHS works on, but we know fundamentally that's not how patients work, so to be able to consider individualising medication and knowing which won't work, interests and excites me.   Helen: So the panel is also very hopeful about the development of those innovative therapies, and you talked about the rare therapies launchpad and the cancer vaccine launchpad, because those offer real hope for treating previously untreatable conditions and generally improving accessibility to treatments. And we're also hopeful that there will be a much better understanding of diagnosis of cancer, through things like the multi-model programme, because although there's lots and lots of research going on with cancer there's still a long way to go to have more effective treatments and to improve diagnosis of cancer.   And then just finally just in response to your question, patient and public involvement, this is what the participant panel is all about, we are a group of individuals whose lives have all been touched by either a rare condition or by cancer currently, either we've had that condition ourselves or it's affected our loved one, and we do bring these diverse views and perspectives to Genomics England and I think we have a crucial role in influencing its decisions about what it does with participant data and who has access to that data. It's critically important that Genomics England listens to what matters to the people whose data it holds and who do that, as Rebecca here explains.  Rebecca: Genomics is a fast-moving science and it has the impact to change lives and healthcare for future generations, but genomics is a science of people and therefore the only way you can truly understand the limitations and opportunities of it is to talk eye to eye to the very people it will impact, and not everyone will agree on everything. But how we understand genomics and its power to transform healthcare, our own and that of our children and the ones we love, can only progress at the pace of the people that it will benefit. It's a simple equation but it's not maths and indeed not science: we are all different and unique, our emotions, experience and history will be wrapped up in our viewpoints and thoughts, and that's where the panel comes in, representing and advocating for the very many different voices of genomic healthcare, ensures Genomics England is stronger, healthcare design is more meaningful and research is more impactful.  I have no doubt that the panel of the future will continue to be heard and understood at Genomics England, and I hope it continues to grow to reflect more diverse voices and experiences and continues to be the people inside the science.   Helen: Finally, the panel is also hopeful for increased public and patient involvement in genomics research, this is integral for shaping research both academic and commercial, it helps with identifying research priorities, developing new treatments, basically getting that voice of the patient in there to tell researchers what's the most important and what matters to them.  Rich: So another question Helen, how do the panel feel about the changing genomics landscape? Helen: A good question and I think overall it's a balance between excitement and hope on the one hand, and a bit of apprehension and caution on the other. So the panel is really excited about the advances going on in healthcare, we're entering an age now where we're promised a much more proactive, as opposed to reactive approach to healthcare. You were talking earlier Rich, about having your genome sequence, and this is something that you have for life, it's like your passport, your fingerprint, so from infancy to old age you've got this data which is held somewhere which holds so much promise of predicting if you might develop a disease, whether you might react badly to a drug, so ultimately it offers great potential to improve outcomes for patients, their families and the NHS. Again, we spoke earlier about this holds so much promise for producing the diagnostic odyssey that so many parents go through when the children are born with a condition that doesn't have a diagnosis, potential to diagnose things like cancer a lot earlier where it's more treatable and to prevent disease as well, I know that's something Genomics England isn't specifically looking at, but through screening programmes, using things for example like circulating DNA which may be able to pick up that there are things going on and picking things up earlier means that those things can be dealt with earlier.  I mean thinking of my own personal example, I know I have Lynch Syndrome, I know that I am at risk of developing bowel cancer now, but that means I can do something about it. So I have my colonoscopies every two years, I take aspirin every day because that reduces my chance of getting bowel cancers and I'm much more symptom-aware, so having that knowledge up front is very helpful in being able to move forward and reduce my chance of getting an advanced cancer.  The panel is also very excited about the ongoing collaborations and the novel therapies that are being developed through the rare therapies launchpad, these offer a lot of hope for treating previously untreatable conditions, and improving accessibility to treatments, and obviously more targeted treatments for cancer, you know, we'd need more effective treatments for cancer but with reduced side effects, so that in a nutshell, those are the other positive sort of things that the panel feel excited about. Where they're slightly more apprehensive or concerned, I mean they do acknowledge that there are challenges ahead and there are big concerns about the NHS's ability to cope with increase in demand for genomic testing and particularly worries about education and training of healthcare professionals in genomics, how do they effectively communicate research findings or results to patients if they don't have a broad understanding of genomics?  And then finally, let's hear from Emma.  Emma: I think I'm excited but cautious. I think it's really important to acknowledge that the research being undertaken is groundbreaking and the vast majority of clinicians have very little to know genomics education, and translating these findings into tangible benefits for participants is so very important, and something I think we've really got to make sure we don't lose sight of.   Helen: We talked earlier about awareness among the public about genomics and we do feel that there's a need to drive education forwards, you know but this is challenging, given the rapid pace of developments that we've spoken about, I think even for the panel members who I would say are relative experts in genomics now it's hard to keep up to date, so how do we do that moving forwards? We've talked about security of data, we understand there are moves to link more genomic data sets both nationally and internationally and that clearly has significant benefits because that brings bigger numbers of patients data together, but opens up potential risks in terms of security, so how do we make sure that the security of that data is as good as it is currently when it's held in one pot in Genomics England Research Library.   And just a couple of final concerns that were flagged by panel members, there is some apprehension regarding potential misuse with genomic data by insurance companies; we're given a lot of reassurance about that but there are concerns that could potentially lead to the most vulnerable in society being unable to get affordable cover if they're found to have genomic changes that mean they are at risk of conditions or have certain conditions and there are also concerns about the ethical implications of AI in diagnosis and clinical decision making, you know, AI is obviously a fantastic thing for looking at patterns amongst a big lot of data, but how accurate is it and where does the human come in, in terms of decision making?   So those are, I think, the broad concerns from the panel. I don't know if you have any thoughts on those, Rich? Rich: I think the big thing to say is I think having the participant panel there, you said in the middle of that, become collectively quite expert and you recognise that. Having the ability to have these complex nuance conversations and have people share that and speak directly to us about it I think is the biggest thing – lots of those points there made by the panel, I think both things that we have very much in our mind about things that one needs to balance and focus on, and there are also things that we already talk about which is reassuring I think as well, we talk about with the panel. I think one of the things for us as well is sort of being clear on some of the things where there are really clearly well-established red lines, for example, that point on insurance, but that is very clear and part of our role is making sure that that is there and people can feel comfortable in that context to understand that.  I think the main thing that I would say is thank you to you Helen, and to all of the panel and all of our participants because I said earlier, this is a team thing and you are all very much part of the team and we would not be able to do our jobs in any way, I wouldn't even say effectively, I would say with the relevance, which is the thing that we drive for, the relevance to have impact for people's lives whose data we hold and will hold in the future. And so thank you for being part of the team. Helen: Thank you. And I think thank you to Genomics England for having the foresight to create the participant panel in the first instance, it was there from the get-go and I think a really great opportunity for all of us to be involved in this, to have our voices heard and listened to, so thank you.  We'll wrap up there. Thank you for joining me today and thank you for discussing your appointment as CEO for Genomic England, and your view on what the genomics ecosystem might look like over the next ten years. If you would like to hear more like this, please subscribe to the Behind the Genes, on your favourite podcast app. Thank you for listening. I've been your host, Helen White. This podcast was edited by Bill Griffin at Ventoux Digital, and produced by Naimah Callachand. 

A mum from Deal has hit out at a London hospital after receiving a letter booking her son in for an appointment - more than a year after he died.Imogen Holliday was sent an email inviting three-year-old Raffy for a visit to Great Ormond Street exactly 14 months after he'd passed away there.Also in today's podcast, a leading Kent charity is calling on whoever forms the next government to ban so-called no-fault evictions.It was part of the renters reform bill that was going through parliament before the election was called. We've been speaking to Canterbury based Porchlight.A business owner in Rainham says a new red route along the high street is turning customers away.The introduction of the double red lines along the A2 was meant to help enforce existing traffic restrictions and tackle congestion. Find out what one trader's had to say and the response from the local council.A Kent veteran who landed on the beaches of Normandy on D Day is returning there this week to mark the 80th anniversary.Peter Smoothy from Herne Bay was one of 156,000 allied servicemen who took part in the invasion. He'll travel to Normandy thanks to the Taxi Charity which is run by London black cab drivers. Hear from Micky Harris from Longfield who's one of them.And in sport, it was a mixed weekend for Kent after two games in the T20 Blast.The Spitfires beat Middlesex away from home on Friday night, but lost to Hampshire Hawks yesterday.

Send us a Text Message.This episode of Making Tracks finds us once again in Sussex visiting a gem of a Railway, The Lavender Line just outside Uckfield. It is then onward to Robertsbridge to talk over plans, now getting underway for the rebuilding of the Rother Valley Railway, which will re-connect the Kent and East Sussex Railway to the National Network.A chance while we were in Sussex to head to the west and catch up with radio and TV presenter Stephen Cranford, to talk to him about his new series, 'Tracing the Rails' exploring a Beeching casualty, the Steyning line. Please find below links to information on the stories in this episode.The Lavender Line, Uckfield, East SussexContact Volunteer@lavender-line.co.ukRother Valley Railway, Robertsbridge, East SussexStephen Cranford's Tracing the Rails series follows the old Steyning line is available on tracingtherails.comYou can watch the series on his website and on You Tube.Govia Thameslink' Aira App for partially sighted customers.The Great British Railway Adventure - David Jones' is visiting all of the UK's 2580 railway stations raising money for his charities Great Ormond Street and Oslo University Hospital - here is his fundraising page.This podcast is produced by Laura Raymond and presented by Alasdair Stewart Our 'Making Tracks' music is with kind permission of composer and musician Richard Durrant. It is a unique piece inspired by the rhythm of the historic rolling stock on the Ffestiniog Railway on the scenic journey from Harbour Station to Tan y Blwch. You can listen and download the full 'Tan y Bwlch' Ukulele Quartet here: Ukulele Quartet No. 1 "Tan y Bwlch" Ukulele Quartet No. 1 "Tan y Bwlch" Richard Durrant · Single · 2019 · 3 songs.

There are a range of outcomes from a genomic test. The results might provide a diagnosis, there may be a variant of uncertain significance, where a genetic variant is likely the cause of the condition, or there might be no particular gene found that is linked to the phenotype or clinical condition - also known as a "no primary finding" result. In this episode, our guests explore the impact of a "no primary finding" result on families, discussing the common experiences and expectations of parents and patients who undergo that genetic testing, and the role that hope plays in the experiences of children with rare and undiagnosed conditions. Today's host, Lisa Beaton, member of the Participant Panel at Genomics England is joined by Dr Celine Lewis, Principal Research Fellow in Genomics at UCL, Great Ormond Street Institute of Child Health, Jana Gurasashvili, a Genetic Counsellor, and Louise Fish, CEO of Genetic Alliance.   "I think it's also really important to add that hope isn't necessarily lost when you don't get a diagnostic result. And in a sense, what can be really helpful is for genetic counsellors to reframe that hope...sort of giving it a different context."   For more information on the SWAN UK project which supports families with children that have been through genetic testing but have not found a result following that genetic testing, visit the website. Read more about the study by Jana Gurasashvili and Dr Celine Lewis: The disequilibrium of hope: a grounded theory analysis of parents' experiences of receiving a "no primary finding" result from genome sequencing.   You can read the transcript below or down it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Hope-for-those-with-no-primary-findings.docx    Lisa: Hello, welcome to the G Word.  Lisa: I think in the back of my mind, subconsciously, I had hoped that when we eventually got a diagnosis, it would – I don't know, bells and whistles, balloons going off, fireworks, etc. And then the experience of a letter thumping on the doormat, and I recognised the postmark quite quickly, and it was at that moment I suddenly thought, “Oh gosh, I haven't buried all these feelings of hope.” Because I opened that letter with quite trembly hands, and then this diagnosis or lack of diagnosis, you know, nothing had been found, and it was a bit… I don't know if it's been described as like a nail in the coffin experience, because I really hadn't realised I was still clinging to this hope all that time, and then again it was, you know, another, “No, nothing's there. Lisa: My name is Lisa Beaton and I'm a member of the participant panel at Genomics England. On today's episode, I'm joined by Dr Celine Lewis, the principal research fellow in Genomics at UCL, Great Ormond Street Institute of Child Health, Jana Gurasashvili, a genetic counsellor, and Louise Fish, the CEO of Genetic Alliance. Today we'll be discussing the impact on parents with children with rare conditions, who received a no primary findings result after diagnostic whole genome sequencing. If you enjoy today's episode, we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Can I ask all of us here present to introduce themselves, please? Celine: Hi everyone, I'm Celine, I'm a behavioural scientist in genomics at UCL Institute of Child Health, and I currently hold an NAHR advanced fellowship to look at the implementation of WGS, or whole genome sequencing, in the NHS. Jana: I'm Jana Gurasashvili and I'm a genetic counsellor at Northwest Thames Regional Genetic Service, and prior to that I was at Great Ormond Street, involved with consenting families to the 100,000 Genomes Project, and I also have an ongoing interest in the lived experience of patients and parents of genetic counselling and rare disease. Louise: Hi, I'm Louise Fish, I'm the chief executive of Genetic Alliance UK, and we are an alliance of around 230 charities and support groups that work with patients and families who have particular rare conditions. We also run a really longstanding project called SWAN UK, and SWAN stands for syndromes without a name. And the SWAN UK project supports families with children that have been through genetic testing but have not found a result following that genetic testing. So, it's clear they have a genetic condition, but science hasn't quite advanced far enough yet to tell us what that means and what that will mean for their child, and what that will mean for their family over the coming years. Lisa: And I personally can attest to the wonderful support that SWAN UK can offer because, as the parent of a still undiagnosed child, I have been involved myself with SWAN UK since my daughter was around the age of three to four years old. It's brilliant being a part of my big SWAN UK family. We first realised that there were some – I suppose something wrong with our daughter when she was around two weeks of age, but it wasn't something I could specifically put my finger on. I couldn't at that point have taken her to a doctor and said, “I don't know what's wrong but there's something wrong.” I just knew in my heart of hearts, probably because I have three elder children, that there were issues, and things weren't developing as they should. She cried a lot, she screamed a lot, she never seemed to be comfortable in any position when you held her, when she was asleep, when she was upright. It didn't seem to matter what you did, she was just a rigid, stuck child, for want of a better word. And all my mum senses were screaming, but it completely sounded ridiculous to take her to a doctor saying, “She feels wrong.” And I think that's quite a SWAN UK experience, from chatting to other families with similar situations. The parents just know that there's something not right, but it can be very isolating not to be able to identify kind of where that starts and what it is. In our case, it wasn't until our daughter was nine weeks old that things became much more obvious, that there were developmental concerns physically and medically, and at that point we went from my sort of mutterings that there was something wrong but I wasn't sure what it was, to a sudden hospital admission with quite a shocking turn of events. From something that had started out quite normally, as a routine visit to the baby clinic, to suddenly being seen by a troop of different paediatricians, and doctors coming in and out constantly, asking different questions, and sending us off all over the building for different tests and x-rays and imaging. And being given a partial diagnosis that our daughter had a condition called arthrogryposis, but it was clear that there was much more going on than that, and we would need referring to many more different fields. And that day really our diagnostic odyssey, for want of a better word, began. So actually, in terms of that diagnostic odyssey, many parents of children with rare undiagnosed conditions experience this, and when we agree to have genetic testing, we feel that we are going to get these answers straight away, and that every appointment that you go along to is going to be the one that brings you the answers. But certainly in our experience kind of 15 years on, that's not been the story at all. Celine, can I ask you to explain what the words no primary findings actually mean when a parent receives that regarding their child? Celine: So, there's a range of different possible outcomes from a genomic test. So, the results might provide a diagnosis to that patient and family, or other situations, there might be a variant of uncertain significance, so we don't necessarily know if the gene that we found, a genetic variant is the likely cause of the condition, or we might find no particular gene at all that we think is linked to the child's phenotype or clinical condition. So, that's what we mean really when we're sort of saying no primary finding. Lisa: Louise, would you be kind enough to explain what you think the impact of no primary findings means to families like my own, parents who don't have a genetic likelihood cause, just a gene thrown up to diagnose their child? Louise: Yeah, I think it's a huge challenge for families, and you'll obviously know that from your own experience. People go to have genetic testing hoping it will give them some answers, first and foremost, just to kind of understand, you know, what condition their child has and what the likely impact that's going to be on their child and on the child's life, and on the family's wider life. And I think one of the things that we really ask genetic counsellors and geneticists to do is help people understand before the genetic testing takes place that there may be nothing found from it, so that that kind of expectation is built in. Because people hope that they will get a diagnosis that will give them answers about what the impact of the condition will be on their lives. In a best-case scenario, access to a particular treatment that might be a huge help for their child, but at the very least, access to a range of services and support for their child. So, that kind of diagnosis is often seen by families as the key to unlocking a range of services and support that will help them and their families at what is the beginning of a lifelong journey. And I think when families get no diagnosis, there's a real concern on behalf of families, a, that they don't understand how their child's going to be affected by the condition. What we're really careful to say to families is, “Just ‘cos you don't have a diagnosis with a name, your child is still the same person they were before. They still have exactly the same bundle of needs as they had before, and you will still need to work with the NHS and with wider services to make sure that they can access speech and language therapy, and physiotherapy, and all of the services that they are going to need and you are going to need to help them live their lives to the full.” But I think that moment of not getting a diagnosis is when people feel I think real – the uncertainty continues, and uncertainty, we know, is a really hard thing to live with, and the lack of clarity about which services you'll be able to access. So, I think psychologically it's a massive impact on the family not to have the answers that they were looking for, or the key to the services that they were hoping would be there. Lisa: Thank you, Louise, yeah, I would definitely agree with that. We had a no primary findings result in I think it was 2019. It was a really bittersweet moment because my daughter's list of various different conditions kind of – by this point, named parts of difficulties for her spans over sort of two pages of A4, and yet on the letter back from the genomics service, it just says that, you know, nothing causative has been found. And so part of you is left wondering, well, how can there be all these different conditions or difficulties, and yet there's still nothing there? And I know personally, I had comments when she was much younger, every time a test came back, where people would say things like, “Oh well, that's great news,” and to some extent it was great news that something hadn't been found, but also if that hadn't been found, what was still out there? And that fear of kind of the unknown was extremely difficult. And also paradoxically, there was a sense of some very well meaning people saying things like, “Oh well, if they haven't found anything then there can't be too much wrong.” But yeah, I have a child who is tube fed and on multiple different medications, and cared for basically for 24 hours a day, so that doesn't really fit in with the picture of there not being very much wrong from a personal perspective. And I think it can make you as a parent/carer feel perhaps there's a tendency to downplay that there is an issue and that perhaps, you know, you're making it up, for want of a better word, and that sense of isolation around that can certainly be problematic. Celine, if I can come to you, that diagnostic odyssey, what are the common experiences and expectations of parents and patients who undergo that genetic testing from your perspective? Celine: Well, I think sort of parents go into genetics testing for a whole range of reasons really, and Louise has already alluded to many of these. Ones that I've come across in my own work include wanting to know why their child has a particular health problem, so that that child can access the most suitable treatments or therapies, or even access clinical trials. Even relief from guilt for many parents, a validation that the parents hadn't done anything wrong during their pregnancy to cause the child's condition, and that's hugely important really, to try and get that relief from guilt. Also to know whether future children might be affected by the same condition, and then more social reasons really, for example, making contact with other parents through support groups, or access to social and educational support. And I think there's also a drive from many parents to feel that they're doing everything absolutely possible for their child. I mean, particularly with something like the 100,000 Genomes Project, it was really a sort of first of its kind project, where patients were on a significant scale able to access this new whole genome sequencing technology. So, many of the parents taking part in that project felt like pioneers, and there was really a lot of expectations around whole genome sequencing in delivering a diagnosis for those parents who'd previously not been able to get hold of one. Lisa: Yes, I strongly can resonate with a number of the points you made there, particularly the feelings of guilt. I must have asked myself a thousand times whether, you know, something I did do, something I didn't do, something I thought of, something I hadn't thought of [laughter], all those questions that swirl around, particularly in the small hours of the night when you feel particularly alone. And yes, I can completely relate to that. And also although SWAN UK is primarily for children and parent/carers whose children don't have a diagnosis, actually a number of the parent/carers on there will have children with diagnoses that are so very rare that absolutely, you know, very, very little is known. They might be the only parent – the diagnosis, for want of a better word, they may have received may just be a series of kind of numbers and genetic dot-dashes, forgive my layman's terms there, but it may not actually help them any further along in terms of feeling that they know anything further or the direction of, you know, where that will lead their children, and that can feel very, very isolating, I'm sure, probably just as much for those of us who don't have that diagnosis. Louise: Yeah, just to add to that, I think that's absolutely right, Lisa, and I just want to give a shoutout – at SWAN UK, we tend to support families who don't have a diagnosis at all, or, as you say, a small number of families who do but have been part of the SWAN UK family for so long that we're very happy to keep them because of the support they're finding from other parents. We work really closely with another of our members, Unique, who are a charity that support parents in exactly the situation you've talked about, where people have finally got a diagnosis and it's that kind of relief of having a name, but it's a super long name, and you find out you're one of only three families in the world with that diagnosis. And so although there's a real I think comfort for people, perhaps if you have a five year old and you're meeting a family who have a 13 year old and a family of a 19 year old, then you start to see a little bit about how your child might develop, but there's not enough kids affected that you can be really certain about that. So, it gives you a little bit more information, but not the kind of wealth of information you were hoping for about how your child's going to be impacted by a particular condition, and what the future might hold for you and for them. So, SWAN UK and Unique very much work alongside each other to kind of support families on whichever part of that journey they're on, because there's still a huge amount of uncertainty for families with those super rare conditions, as you say. Lisa: Definitely, and I'm sure you'll be familiar, Louise, yourself if you get time to go on the online communities and seeing the question that pops up quite regularly when somebody has received a diagnosis of, “Can we still remain part of the SWAN UK family?” And they very much use that word, family, because I think they do feel that, although all our children are different, there are children with physical, medical, cognitive, a combination of all the above syndromes, conditions, etc, they feel that kind of embrace of all being in a collective club of rare and unique and undiagnosed, and that's very comforting to the members. Louise: Absolutely, yeah, I think that sense of belonging and being able to reach out to other families that you've been on that journey with for many, many years. You know, many of our families join when their children are like one or two, and they're still with us when, you know, their children are 26, 27 [laughter], and that sense of having that community and that family and that belonging is really, really important to people, I agree. It makes a big difference psychologically to be part of a community you can reach out to and ask the questions that perhaps you can't ask to other people. Lisa: Celine, can I ask you how many patients for the 100,000 Genome Project have had a no primary findings diagnosis back? Celine: Well, back in 2021, there was a paper published in the New England Journal of Medicine, which reported that, in the initial pilot for the 100K, a diagnosis was found for around 25 percent of rare disease participants, and other studies looking at the diagnostic yield of whole genome sequencing have put the number anywhere between 25 percent to 55 percent, depending on the clinical indication. And we know that even already from the 100,000 Genomes Project, this pioneering project has led to more than 6,000 diagnoses being identified, and that number will obviously continue to go up as they explore the data and gather new insights. However, that still obviously leaves a significant number that won't get a result from whole genome sequencing, as many as half of those rare disease patients, and that was really the basis of the study that Jana and I worked on. So, we felt that there had been so much research really looking at the experience of parents who do receive a genetic diagnosis, and that a lot of attention rightfully does focus on the amazing successes of the 100,000 Genomes Project and genomic medicine more broadly, but actually that there is a considerable number of patients and parents and families who don't get a result, and we felt that it was important that we also focus on those parents and patients, and try and understand their experiences. Lisa: Yes, you can feel, if your child, for example, is under multiple different care specialists, that it can be quite hard, when you've just got this list of different names of things that are wrong, that you feel very much still out on the limb and forgotten about. But it's clear that, from your work, you're identifying that and pointing that back to the specialists, the consultants, to remind them that these parents and these children are still finding their ways through. Can I ask you, Jana, the study that was conducted, what would you say the main things from that study told us? Can you describe some of the emotions experienced by the parents, and what challenges that they have faced along that receiving the no primary findings diagnosis? Jana: Yes. So, many participants really felt very strong disappointment and sadness on receiving that no result, and for many, it kind of reflected the feelings they had had when they first realised they had a child and there was no diagnosis for their condition. And as Celine said, this was such a new technology that people had invested a lot of hope in, and so many felt that it had been their last chance of finding a reason for their child's condition, and that they'd come to the end of the road with that no primary finding result. And, well, one person described it as another door shut. And people talked about the actual toll taken, the emotional and physical toll, and one person described feeling low for several weeks following the result. And some talked about the timing of the result. Somebody got it as a letter just before Christmas, and so their whole family holiday that they'd prepared was marred by getting that news just before Christmas. And it often seemed to leave parents feeling isolated and unable to contribute to normal parental roles, such as going to parent groups, etc, because they felt that other mothers particularly - as it's mothers we were speaking to, other mothers, their experience of motherhood was so incredibly different to their own, and they felt a lack of support. And one parent actually talked about wanting to lock everyone in the house just to escape the feeling of judgement and pity from outside the front door. And some parents talked about finding it hard when other people would post on support groups that they had got results from the 100,000 Genomes Project, which was very difficult. And some talked about hope as finding it hard to keep hopeful but needing to keep hopeful. So, they talked of hanging onto a little bit of hope, as though that was quite an intense thing, which I think, Celine, you'll agree, that made us able to kind of identify that hope was really part of a coping mechanism for this whole process of going through this diagnostic odyssey. Celine: Yeah, people sort of talked about not wanting to let go of hope and the importance of hope, and that without hope, there was no sense of wanting to continue this journey of trying to find a diagnosis, and that it was still very important to people. And I think that parents did understand that, even though a no primary findings result now, that doesn't necessarily mean that they won't get a diagnosis at some point in the future. So, there's obviously the opportunity to do future reanalysis of the genome, particularly as we understand more about the function of different genes, and as new genes are added to many of the panels that we're using in whole genome sequencing. So, I don't think not finding a result means that there is no hope in these circumstances, but for many parents, they did talk about hope being too painful, and not wanting to be let down again, and really preferred to focus on the here and the now rather than necessarily focus on the future. Lisa: Yes, I can only speak from my own experience here, but I think I primed myself to actually forget about going on the 100,000 genomes sequencing because, having undergone genetic testing for certain conditions that they were quite convinced my daughter had from around the age of four months through to around the age of three years, I'd gone to so many appointments and thought, “Oh, this'll be the time that I turn up and somebody will tell me this is what is the diagnosis.” And when I then joined the 100,000 Genomes Project in 2015 with my husband and my daughter, the genetic experience, the discussions that we had at the time were very helpful in that it was made quite clear to me that potentially we wouldn't get a finding, and actually that any information that did come forward was perhaps unlikely to be hugely beneficial to our family at that point. So, I was quite clear what potential finding would mean to us. But I think in the back of my mind, subconsciously, I had hoped that, when we eventually got a diagnosis, it would – I don't know, bells, whistles, balloons going up, fireworks, etc. And then the experience of a letter thumping on the doormat, and I recognised the postmark quite quickly, and it was at that moment I suddenly thought, “Oh gosh, I haven't buried all these feelings of hope.” Because I opened that letter with quite trembly hands, and then this diagnosis or lack of diagnosis, you know, nothing had been found, and it was a bit… I don't know if it's been described as like a nail in the coffin experience, because I really hadn't realised I was still clinging to this hope all that time, and then again it was, you know, another, “No, nothing's there.” And I think because of the work I've undertaken with SWAN UK as a volunteer, and being quite involved in wanting to sort of educate myself and learn more, I did understand that, even though we had no primary findings, it didn't mean that the study, everything was closed to us. It didn't mean, you know, that things won't still be looked for. But equally, at the same time, it just meant that we had nothing yet to pin anything on at that point. And I think it's quite hard to pick yourself up and dust yourself off again, to be like, “Okay, we're still here, we're still circling that drain,” as it were. I think actually that takes us on quite nicely really, about what role hope has in the experiences of a child with rare and undiagnosed conditions. And again if I can just say that there's hope and there's realism, and somewhere along the way, if you've been on the journey for quite a long period of time like ourselves, you have to try and find a way of living with that hope and realism all at the same time. So, we're still hopeful that one day we might get some answers, but we're realistic that day to day we need to focus on the difficulties or the experiences that my daughter has, so that we can manage to give her the skills to live her life to the very best of her abilities. Certainly, that's our experience. And also I think if I'd let myself dwell forever on not having a diagnosis or a pathway specifically for that, it would have been quite difficult to carry on, pick ourselves up every day. What would you think about the role of hope there, Louise? What would you say your experience is from chatting to fellow parent/carers? Louise: Yeah, I think you've described it really eloquently and better than I'll be able to do, but when we talk to people, the phrase I always have in my head is kind of hope for tomorrow and help for today are the two things that people are looking for. So, making sure that that hope for tomorrow's still there both in terms of, you know, the NHS being really clear that it will provide support for individuals without a diagnosis, and there may be opportunities for reanalysis in the future as science makes future progress. And, you know, there is progress being made so fast at the moment in genomics and that's really welcome. So, making sure that people who've already had whole genome sequencing but not found anything continue to have access to that potential reanalysis I think is really important. As you've rightly said, Lisa, as well, thinking through in terms of hope for tomorrow, the opportunity to take part in clinical trials and to make that as easy as possible where treatments are being delivered, to have the opportunities to take part in trials for non-condition specific treatments, whether that's for epilepsy, which affects people across a whole range of conditions, or sleeplessness, which affects people across a whole range of genetic conditions. You know, there are both trials that only people who have a particular condition can take part in, and trials that are open more broadly, so making sure those opportunities are available as well, so that people have that kind of hope for the future. But alongside that, I think it's really important for the NHS to be clear with people about what help for today will continue to be available, and so we are working really hard with the NHS to emphasise the fact that when no diagnosis is possible, the NHS still needs to be clear to people about how they will be supported, whether that's through the genetics team or a particular discipline, perhaps the one that is the closest fit for their child's biggest need, whatever that may be, that they can still access more joined up care. So, you know, who is the person in the NHS, if you don't have a diagnosis, who's going to help you secure referrals to speech and language therapy, to physiotherapy, to learning disability nurses, and to the package of care that your child may need. Who is the clinician, if you don't have a clear diagnosis, who's going to be the person with the authority and the confidence to lead the multidisciplinary team, maybe up to 30 healthcare professionals who are going to support your child. You know, who is going to be the lead clinician that's going to pull that multidisciplinary team together and make sure that your child's not being prescribed stuff that's contraindicated, or that's going to help one element of their condition but make another element worse. So, we are really trying to work with the NHS to make sure they're thinking through, where will that support be for the family in terms of their healthcare. And alongside that, you know, many wider services like schools or social care or employers welcome the chance to talk to a geneticist or a genetic counsellor or nurse to understand what adjustments they might need to make for someone who clearly has a genetic condition but doesn't have a clear diagnosis. And so we're trying to kind of make sure the NHS is both focused on the kind of science side and making sure that the hope for future findings is there, but also the help side, and making sure that the right package of care is still available for families who clearly have a genetic condition. Lisa: Actually Louise, yeah, you've really summed it up excellently there, and whilst I am hugely grateful to the NHS and the various services, I can say, hand on my heart, my daughter has a huge number of professionals involved, both from the health side of things and social care side of things, and actually the person that kind of holds all that together is myself. And because we're under multiple different teams, every time a new medication, for example, is prescribed, I need to go back to our lead team, which in this case happens to be neuromuscular, and check that, for example, if gastroenterology have prescribed a medication, that it's not contraindicated from a neuromuscular side of things and so forth. It's all a bit like having sort of interlocking parts of a jigsaw, but perhaps no picture to follow [laughter], and that can be quite an isolating experience. And certainly, having chatted to fellow parent/carers, I know that's their experience as well. And I imagine, Celine and Jana, you found sort of similar experiences when conducting the research. Celine: Yeah, so my PhD actually was focusing on the sort of journey for parents as they go through the diagnostic process, and one of the things that came out really strongly from that body of work was how the parents were really carving their own care pathway, how they had to sort of push and fight to access services, but at the same time were the gatekeepers for their child's health. Having to make sure all the various teams and clinicians were kept up to date with all the different tests that they had and all the results. And, you know, at times, this could be really frustrating for a lot of parents, ‘cos they had to keep repeating their story over and over again, particularly ‘cos they didn't have a diagnosis. So, these parents really were having a very different parental experience to many of their friends and family, because their experience of being a parent to a child with an undiagnosed condition was really sort of as being a patient advocate, and as having to push and fight to access services. Lisa: Yeah, it's quite a unique experience. You are the specialist for your own child in that sense, I think would be the way I'd describe it. And I suppose over the years, I've got so used to sort of trotting out different medical explanations in terms that you can almost sound like you know what you're doing [laughter]. And a few times when I've been at medical appointments, and perhaps we've met a new specialist or consultant, they've said, “Oh, what's your field? What's your area of expertise?” And actually you just think, “No, I'm just a specialist in my own child” [laughter]. But that's quite an empowering feeling actually, so I guess that plays back into the feelings around hope and expectation, even with having an undiagnosed child. Lisa:    When I was recruited to the 100,000 Genome Programme, we didn't actually as a family receive genetic counselling specifically, and I know that this is something that is incredibly important to many families, and how that can support you sort of going forward. We were quite lucky in our experience in that we knew that our daughter was definitely going to be our last child, so we didn't have the thoughts and insecurities around potentially what it might mean for any future children that we had. But certainly as my daughter has got older and she's asking her own questions, and our older children are at a stage in life where they're looking at potentially having families in the future, I know that those things have come up, and we're just still exploring what that will mean in the bigger picture. But can you tell us, Jana, really what can genetic counsellors do to help parents feel less isolated and better to cope with the uncertainty surrounding their child's condition? Jana: Yes, well, I'm sorry to hear you didn't have any genetic counselling prior to going on the 100,000 Genomes Project, because that consent conversation right at the beginning, before the whole genome sequencing, is really important. It's important to know what the range of outcomes may be, so that it may be that you might get a result, you might get a variant of uncertain significance, or you might get no result. And parents in our study did suggest that their sense of isolation when they got a no primary finding result would have been alleviated if they'd known how many were not getting results. So I think in the longer run, it's 40 percent perhaps received a result, so that's 60 percent that didn't receive a result, so those parents were not alone, but they felt very alone. And some suggested if they'd just had a leaflet really explaining that, and explaining that they'd still contributed to research and that that had been, you know, a good outcome in a sense, then they would have felt better about it. So, a lot of work can be done before the testing really, to explore how you might feel on that range of results, and then that way sort of prepare parents for how they're going to feel, and perhaps that helps them to have things in place, to know that it might be a vulnerable time with that letter, although that was particular for the 100,000 Genomes Project, to get the result in a letter in that way, and as you described, after such a long time, that you'd been able to forget that you'd been on the project. But to actually be a little bit prepared that it make take its toll on you might actually help with preparing oneself. It also might be helpful to include ways of promoting ways to enhance health and wellbeing for parents in terms of practical support, such as those things that you're already attempting to access, like the respite services, school support, support groups, and thinking about psychological wellbeing and ways of managing stress, psychological support for parents, and possibly spirituality based resources as well. And focusing maybe on what is known about the child's condition even without a diagnosis, so what's likely to be beneficial, and support parents in actively coping, such as what research they might be able to access, and continued medical support. And also actually having a named person within the genetics service, so they have someone to go to for any follow-up that has a name, and so they don't feel isolated from the genetic service. And signposting to those external resources, such as SWAN UK, can be very important as well, of course. Celine: I think it's also really important to add that hope isn't necessarily lost when you don't get a diagnostic result. And in a sense, what can be really helpful is for genetic counsellors to reframe that hope, if you like. So, one thing that we talk about in our paper is that it might be useful for health professionals to ask a question such as, “In light of the new information that we now have from the whole genome sequencing result, what are you hoping for now?” So in a way, it's sort of reframing that hope, sort of giving it a different context. Lisa: Definitely, and I think one of the things as well is that, because potentially for when parents were first recruited to a study such as the 100,000 Genome specifically in this case, that it might be quite a length of time between that initial recruitment and when the actual result comes out. And of course, in that time, with the advances in genetics, it's sort of somewhat of a Pandora's box really, isn't it, in that we're almost kind of finding the information out quicker than we actually know how to process it and what it potentially means. So actually if there's a genetic counsellor available to speak to those parents, or for those parents to be signposted to somebody who can say, “Well look, since you were recruited, actually this is happening, that's happening,” or, “These research projects are happening,” personally, I can say that is going to be really helpful and handy, and would have been really useful. I just know that for myself anyway and my family, that if there was a leaflet or something that had given me a way of knowing how I could contact somebody in the future, that would be really helpful. What ways do genetic counsellors use in maintaining a delicate balance between not creating false hope but also providing meaningful support to parents? What would you say around that, Jana? Jana: I think as we've already touched on, it's that managing expectations from the outset when the test is offered. So, not generating too much hype or excitement, but setting those expectations, giving that information about the diagnostic yield. Also, informing parents that what people do experience has been described as a rollercoaster of emotions. It's normal. You might also want to explore people, not only what they're hoping for, but also the outcomes that they might be fearing, and giving them a chance to voice those, because they can be very powerful things as well. A diagnosis might not be what you want to hear, so there can be a lot of ambivalence around wanting a diagnosis when it might actually be a life limiting condition, that you didn't really want that certainty. And also helping parents to explore how not receiving a result might feel, so that they've actually rehearsed it a little bit, and where they might go to when they need a bit of extra support. So, they already know, “I go and talk to my friends, that's where I get my support from,” so that they're kind of ready for it, and that might help them with that sense of isolation, but also validating these feelings. So, it's okay, it's okay to have that dip, it's okay to feel, that it's something that many people experience. And creating a safe space for people to feel that, so if they want to talk to a professional or a friend, that those feelings are validated. And in that way, kind of with that pre-counselling really, helping parents to develop their own set of resources, so they've got those to draw on. And as you've mentioned, Lisa, it's like having your own resources also helps generate that feeling of empowerment and control. And as Celine has said, it's really facilitating parents through that passage of reframing what you're hoping for, reframing what the future looks like, if you had one picture of a future. You need to become comfortable with the future you're now looking at. Lisa: Thank you, Jana. Louise, if I can ask you really, we've already touched on the role that SWAN UK can play for parents dealing with undiagnosed rare conditions, but perhaps if you could home in on that and explain in more detail the main focus of SWAN UK, and what that can do for parent/carers. Louise: So, what SWAN UK primarily does is bring together parents who are in a similar situation. So, we have a team of amazing parent representatives, who Lisa is one, who help us shape the support that SWAN UK can provide, and really make sure that it's based on a really strong understanding of what it's like to be a parent of a child with an undiagnosed genetic condition, and an understanding of that kind of expertise that parents who have been on that journey themselves will bring. So, we have a series of Facebook groups. Some of them are for different regions, so people come into contact with other parents in their area who are going through similar circumstances. Some of them are more around age. So, you know, we have Facebook groups for parents who are waiting for a diagnosis or have got a new diagnosis, and then we have a group called SWAN Graduates, which is for children who are older and over 18, so their parents can come together and share their experiences. So, it's really to help parents be able to talk to one another, to share their experiences, to support one another, and often to ask for advice. They're often kind of practical questions about, you know, “My child needs this kind of wheelchair, has anybody been able to source that from somewhere?” “My child's having real difficulties eating at the moment, can anyone give some advice on this particular challenge?” “This thing someone else has faced, how did you approach it? Where did you reach out for support?” So, that peer to peer advice and support is really at the heart of SWAN UK. And then what we try and provide around that is access sometimes to information events, where there's particular issues that are affecting a lot of SWAN families. So, we hope over the coming year to have a series of information events targeted at families with children who don't have a diagnosis, and some of it is just trying to have social events and bring people together again. We've had, for example, an active dads group in Wales, who've been bowling and wanted to go axe throwing, and really they just want to come together with other dads who are in the same situation, and being able to talk to one another and provide emotional support to one another. So, that's kind of the nub of SWAN UK and what we do, and then alongside that, that kind of fits in with Genetic Alliance's wider goal, which is much more around campaigning for improved services. So for example, the Genetic Alliance UK team has worked really closely with commissioners in Wales, who actually commissioned the first SWAN clinic, which is in Cardiff. That was a two year pilot, to see what support could be provided both to help SWAN families get a diagnosis, but far beyond that, to make sure that the care for families who don't have a diagnosis is better joined up. And that we feel has been a real success. Again, there hasn't been a really high diagnostic yield, there have been very few new diagnoses, but the support provided to the families who are in contact with that clinic, in terms of helping them access better joined up care both from the NHS and from services more widely, has been brilliant. And we're currently working with NHS England in the UK, who are exploring an opportunity to commission two SWAN clinics in England. So, that trying to kind of improve services, and then the third aspect of that is just working generally with the new genomic medicine service alliances as they emerge across England, to try and make sure they are thinking through what support they will need to continue providing to families who've gone for whole genome sequencing in future, not through a research project like 100,000 Genomes, but just through routine clinical practice and routine clinical diagnostics, what support will they need to provide for families who go through that process and don't get an answer. And that won't change the support they will need from the NHS. It will just mean that perhaps that clinic needs to play a more active role in helping them access those services. So, all of that kind of campaigning to have better services for family who have an undiagnosed genetic condition continues as well. Lisa: So, I think one of the things really just to finish off today, is of course looking at the future. Considering advancements in technology, would you say that future reanalysis of the 100,000 Genome Project is going to yield additional insights? Celine, can I ask you to comment on that? Celine: Yes, absolutely. As we understand more about the role and function of different genes, and as new genes are added to the panels, we will definitely be able to provide a diagnosis for more parents and more families. But I think we don't yet necessarily know exactly what that reanalysis will look like, and it's not really clear yet how this will work in practice. Lisa: And Louise, would you have anything else to add to that at all really? Louise: No, I think it is just that hope for the future and kind of help for today. I think the NHS needs to be equally clear about, you know, there's some amazing investment by the UK government in genomic research, and that's brilliant and we want that to continue, but equally we want the investment to be taking place into routine clinical services and diagnostic services, so that we can talk to people both about the hope of potentially getting a diagnosis in future, but making sure that the help continues to be available for as long as they don't have a diagnosis, and that help for families who don't have a diagnosis is going to be just as important. And what we try to ask for is both real clarity around what the NHS can provide, and really clear signposting to organisations like SWAN for families that continue to not have a diagnosis. And again, just to give an equal shout out to Unique, who are able to support families who have an ultrarare diagnosis, where perhaps they're the only person in the country with that particular diagnosis, or one of a handful of families around the world. Signposting to that peer to peer support will continue to be a really important part of the process as well, so that families can help one another, learn from one another, and just give each other support that they are kind of sharing that same journey and walking alongside one another on that journey as it continues. Lisa: And bringing this podcast to a close, can I just ask you really, any final thoughts, anything that you would sum up from your experience of researching the no primary findings and where we now are today? Celine: I think the main thing for me is just to sort of make it clear to parents that a diagnosis isn't necessarily a magic wand, even though it is obviously very important to a lot of parents. But that even without a diagnosis, we still have the opportunity to manage patients' symptoms, and often a diagnosis doesn't make a substantial difference, because parents are sometimes left with a lot of uncertainties and a lot of unanswered questions. So I think, and as Louise and Jana have said before, it's really sort of on focusing what we do know, and thinking about what we can offer and what support we can provide to parents and families even without a diagnosis. Lisa: Thank you very much to our guests today, Jana Gurasashvili, Celine Lewis and Louise Fish, for joining me as we discussed the impact of a no primary findings result. If you'd like to hear more like this then please subscribe to the G Word on your favourite podcast app. Thank you for listening. I've been your host, Lisa Beaton. This podcast was edited by Mark Kendrick at Ventoux Digital, and produced by Naimah Callachand.    

GUEST 1 OVERVIEW: Dr. Anthony Hinton graduated from Birmingham University in 1984 and has specialized in ENT surgery since 1986. After serving as a Registrar at Manchester Royal Infirmary, he held positions as a Senior Registrar at several London Teaching Hospitals including Great Ormond Street, The Royal National Throat, Nose, and Ear Hospital, and St. George's Hospital. He currently serves as a consultant ENT Surgeon. GUEST 2 OVERVIEW: The Deputy Leader of the Reform Party, Parliamentary Candidate for Wellingborough, and former MEP for London. He commenced his career in corporate finance at Shearson Lehman Brothers, subsequently working in reinsurance brokerage as a finance director. He received his education at Cambridge University.

GDP Script/ Top Stories for Dec 13th    Publish Date:  Dec 12th    HENSSLER 15 From the Henssler Financial Studio Welcome to the Gwinnett Daily Post Podcast. Today is Wednesday, December 13th, and Happy 75th Birthday to musician Ted Nugent. ***12.13.23 - BIRTHDAY - TED NUGENT*** I'm Bruce Jenkins and here are your top stories presented by Peggy Slappy Properties. Ukraine native earns prestigious EAGLE award at Gwinnett Technical College Ponies treat hospital patients by relieving stress, boosting mental health Study says Meditating can slash stress and anxiety for nurses Plus, my conversation with Leah McGrath from Ingles Markets on donating food. All of this and more is coming up on the Gwinnett Daily Post podcast, and if you are looking for community news, we encourage you to listen daily and subscribe! Break 1: PEGGY SLAPPY STORY 1: Ukraine native earns prestigious EAGLE award at Gwinnett Technical College Anastasiia Pliashko, a resident of Cumming, has been selected to represent Gwinnett Technical College at the EAGLE Leadership Institute in March 2024. EAGLE, which stands for Exceptional Adult Georgian in Literacy Education, honors students demonstrating superior achievement in adult education. Pliashko, originally from Ukraine, arrived in the U.S. in August 2022. She enrolled in Gwinnett Tech's HSE program to earn her GED and plans to pursue an associate degree in business management. Pliashko expressed gratitude for the recognition, stating that being named the EAGLE winner has boosted her confidence and provided motivation to achieve her goals. STORY 2: Ponies treat hospital patients by relieving stress, boosting mental health Lindsey Head, 56, initiated Pixie and Pickles Adventures, a program that utilizes ponies for therapy in hospitals. The seven well-trained ponies, visiting Lister Hospital in Stevenage, Herts., provide stress relief and mental health benefits to patients. Lindsey, a ward sister, started the venture after witnessing the positive impact on her late father in a care home. The therapy ponies, wearing diapers and maintained with high hygiene standards, engage with patients, bringing temporary relief and joy. The program has grown, securing regular visits to the hospital and sparking discussions with Great Ormond Street. The ponies' visits complement the support provided by 14 therapy dogs at Lister Hospital, contributing to patient well-being and staff morale. STORY 3: Meditating can slash stress and anxiety for nurses: study Research indicates that Transcendental Meditation (TM) significantly reduced stress, anxiety, and burnout among frontline nurses during the COVID-19 pandemic. The study involved 104 nurses in three Florida hospitals, with the TM group showing a 62% decrease in anxiety, 57% reduction in PTSD, and 24% decrease in burnout over three months, compared to minimal changes in the control group. TM, a simple technique practiced twice daily for 20 minutes, is not a religion or philosophy and aims to calm the mind. The study highlights TM's potential to enhance nurses' well-being and retain them in practice during challenging healthcare scenarios. We have opportunities for sponsors to get great engagement on these shows. Call 770.874.3200 for more info. We'll be right back Break 2: M.O.G. – TOM WAGES – DTL STORY 4: First map of human limb development looks like a masterpiece Scientists have provided unprecedented insights into human limb development, using spatial cell atlas technology to map the cellular landscape and processes during the early stages of limb formation. The study reveals that human fingers and toes do not grow outward but form from within a foundational bud, with "orchestrated cell death" revealing well-defined shapes after around seven weeks of development. The research, part of the Human Cell Atlas initiative, could have implications for treating muscle-related disorders or injuries and impact the diagnosis and treatment of congenital limb syndromes. The atlas provides a resource for understanding the complexity of limb development. STORY 5: Latino voters concerned about economy, feel neither party pays them close attention, poll says A UnidosUS survey of Latino voters in Georgia reveals that, with less than a year until the 2024 election, these voters are concerned about economic issues. While they align more with the Democratic Party on average, majorities believe both parties either don't care much about or are hostile toward their community. The top three issues for Latino voters are inflation (53%), jobs and the economy (47%), and healthcare (41%). The survey indicates that both parties need to engage more with Hispanic voters and address their concerns, with a focus on economic issues. We'll be back in a moment Break 3:  ESOG - INGLES 5 – GLOW LIGHT SHOW STORY 6: LEAH MCGRATH And now here is my conversation with Leah McGrath from Ingles Markets on donating foods. STORY 7: LEAH MCGRATH ***LEAH MCGRATH INERVIEW*** We'll have final thoughts after this. Break 4: Henssler 60 Signoff – Thanks again for hanging out with us on today's Gwinnett Daily Post podcast. If you enjoy these shows, we encourage you to check out our other offerings, like the Cherokee Tribune Ledger Podcast, the Marietta Daily Journal, the Community Podcast for Rockdale Newton and Morgan Counties, or the Paulding County News Podcast. Read more about all our stories, and get other great content at Gwinnettdailypost.com. 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Public Service Announcement: Would you like to support us ? We are raising money for our NFP and podcast to obtain an office space and podcast recording studio for 2024. Our goal is $10, 000 AUD and any donation big or small is helpful ! If you're interested in supporting us, please email us at hello@pbbmedia.org for more information. If you're not familiar, Check out our work at pbbmedia.org In this interview, Oni Blecher interviews Dr. Howard Chilton has been a neonatologist (a baby's physician) for over 45 years. He was born in York, England and studied at St Mary's Hospital Medical School in London. After wonderful years in London in the swinging sixties he graduated then interned at Addington Hospital on the beach in Durban, South Africa. Following this, he was accepted for a Senior House Physician appointment in Neonatal Medicine at Harari Hospital in then, Salisbury Rhodesia, now, Harare, Zimbabwe). After more training, Howard eventually obtained paediatric appointments at the Hammersmith Hospital and the Westminster Children's Hospital, then, after obtaining his MRCP (UK) degree, the John Radcliffe Hospital, Oxford where he also did a short fellowship. He then became a SHO at the Hospital for Sick Children, Great Ormond Street, London in the Department of Respiratory Medicine. He did a mandatory Neonatal Fellowship in the US at Denver Children's Hospital which included two years in a centre of excellence in high tech neonatology including doing neonatal ground and air retrievals, really taught him how to look after the sickest, smallest babies.Before starting this fellowship though, he had a long stopover in Sydney doing locum Respiratory and Paediatric jobs, to check out job prospects. During one job at Prince Henry Hospital he met a beautiful nursing sister called Tamara.At the end of the fellowship, Howard was appointed as the Director of Newborn Services at the Royal Hospital for Women in Sydney, where he held this position for over twenty years, resigning in 1999 to concentrate on clinical work and parent education. Apart from looking after babies and their parents, Howard now spends a lot of his time talking: to parent groups, or to conferences in Australia and overseas, and to media outlets about ‘responsive parenting' and the myriad issues which arise for parents when they take their new baby home. He believes knowledge of the biology of the baby can help parents understand and meet their baby's needs and enables them to relax and enjoy the wonderful experience of parenting.He married Tamara soon after arriving back in Sydney from the USA and she remains the light of his life. They have two daughters, Georgina and Isabella and five grandchildren ! all under 5 years of age. Find out more about Dr. Chilton, including his well renowned books at babydoc.com.au

This year as we celebrated our 10-year annivesary, the NHS celebrated a significant milestone of 75 years. In this episode we reflect on our journey over the last 10 years, including the impact of embedding genomic testing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today. Host Rebecca Middleton, Vice Chair of The Participant Panel at Genomics England is joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, and Dr Rich Scott, Interim Chief Executive Officer for Genomics England in this special episode of the G Word.   "To date, we've had over 1,500 putative diagnostic variants returned to the NHS, so to our NHS genomic laboratory hubs, for further investigation, further discussion with clinical teams. About 80% of those have been returned to clinicians and therefore to patients to, for example, give them a diagnosis or to update the diagnosis that they've been given or make treatments available. That is a real positive benefit from that pipeline to individual patients."   Listen to the other episodes in our 10-year series: Shelley Simmonds, member of the Participant Panel at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Amanda Pichini, clinical lead for genetic counselling for Genomics England as they reflect on how the patient journey has changed over the last 10 years for those living with rare conditions. Dave McCormick, member of the Participant Panel at Genomics England is joined by Jenny Taylor, a valued member of our research community, and Professor Matt Brown, our Chief Scientific Officer, discussed the last decade of genomic research at Genomics England.   Transcript You can read the transcript below or download it here: Transforming-the-NHS-with-genomic-testing.docx   Rebecca: Hello and welcome to the G Word. My name is Rebecca Middleton and I'm the Vice Chair of The Participant Panel at Genomics England. On today's episode, I'm joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, and Dr Rich Scott, Interim Chief Executive Officer for Genomics England. Today we'll be reflecting on the last ten years of genomics, including the impact of embedding whole genome sequencing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today. If you've enjoyed today's episode, we would love your support. Please like, share and rate us on wherever you listen to your podcasts. Thank you, Sue and Rich, for joining me today as we look back at how genomics has developed in the NHS over the past decade and impacted tens of thousands of lives. It all started with the creation of Genomics England and it's first groundbreaking initiative, the 100,000 Genomes Project, which sequenced around 85,000 NHS patients affected by rare conditions or cancers and led to groundbreaking insights and discoveries for so many families. I'm one of those rare condition patients and my genome sits in the National Genomics Research Library besides thousands of others. Along with the project, I've been on a journey over the past ten years and I'm still hopeful that through time and further scientific discovery, my family and many others will get the answers they need for the future. Today is a chance to reflect back over the progress of the past ten years and to look forward about what's next for genomics, for genomic science, the genomic service, and for the patients and families it impacts. Sue, welcome. If we can come to you first, and it's a very big ask coming up, but can you briefly sum up your critical role in genomics over the past ten years and talk us through how you've shaped the service in the NHS to date? Sue: My role in genomics in the NHS has actually been much longer than ten years, because particularly genetic services have been part of the NHS journey since it was formed in 1948. As Chief Scientific Officer for England, part of my responsibility since I was first in that post in the Department of Health at that time and now subsequently in NHS England, but still with a crosscutting health and social care role, genetics and genomic services actually sit under the remit of the Chief Scientific Officer for England. Shortly after the 100,000 Genomes Project was announced and that the NHS would be a major contributor to the 10,000 Genomes Project, I was asked to lead the NHS contribution to the 100,000 Genomes Project. My role has been both of leading the NHS contribution to the 100,000 Genomes Project, and then as Senior Responsible Officer for Genomics in the NHS in introducing the NHS Genomic Medicine Service to the NHS and its subsequent role in delivery and in supporting research and other initiatives. Rebecca: Rich, over to you. Ten years ago I believe your role was very different and you were in clinic, so how has it changed over the past decade as genomics has embedded itself into the NHS? Rich: That's right. As you say, I'm a doctor by background and ten years ago I was consultant in clinical genetics at Great Ormond Street, where I still practice, I still do one clinic a month, but my role is primarily sat there meeting families with a child normally with some symptoms or some problems which people thought might be those of a rare condition and thinking about how we did that testing. At that time I was beginning to think about how we use in Great Ormond Street some of the newer technologies that were coming along. Using, for example, gene panels to help diagnose children who had epilepsy of early onset. Eight years ago, I joined Genomics England, where I could see the work of Genomics England and the partnership with NHS to deliver the 100,000 Genomes Project was something where at national scale we could do something, which at that stage I was just thinking about within one hospital setting. That's really changed things for me in clinic, but also my role in that has changed. I joined Genomics England originally as the clinical lead for rare disease, so bringing that specialist clinical expertise to give advice on how we establish the rare disease component of the 100,000 Genomes Project. More recently, in my role as Chief Medical Officer, I'm actually now as interim CEO thinking about how we've made that transition from the learning that we've gained through the 100,000 Genomes Project to working in partnership with the NHS and Sue and team to play our role in supporting their NHS Genomic Medicine Service. The next phase, if you like, or questions for us to make sure that we are still thinking in a forward looking way about how genomics can do what we believe it can do to be really there in the mainstream for everyone in terms of healthcare. Rebecca: And it really has been quite a journey over these past ten years, moving from a research project with 100,000 Genomes Project to a live clinical service and all the challenges that that must bring. Sue, what are you most proud of, what are those challenges that you've had to overcome and how do you see genomics medicine service moving forwards so it can help even more families? Sue: I think in answering your question, first of all, the Genomic Medicine Service is much broader than the whole genome sequence service that is delivered in partnership with Genomics England, and I'll come back to that. In terms of what I'm most proud of, I think when we started the 100,000 Genomes Project there was a view that we shouldn't involve the whole of the NHS in recruitment and in feedback to participants. I pushed really hard to have the whole of the NHS involved, recognising that if we were going to enter into a transformative project particularly for the use of cutting edge technologies by whole genome sequencing and the analytics that went alongside that, if we only started with a small number of centres we wouldn't get the transformation that was required within a whole health system. I'm really proud of the NHS contribution because the number of patients that were recruited over the period of time where we didn't start active recruitment until 2013 and then we completed early in 2019, to deliver this from routine care in the NHS in terms of recruitment and then for feedback I think is something that is unsurpassed by many other research projects, let alone research initiatives in genomics across the world. So while this is a world leading project, it's also I think a world leading contribution from the NHS from its routine care position. I was also proud myself to be a participant in the 100,000 Genomes Project within the cancer arm of the project and being able to speak at different public events around the benefits of sharing data through the National Genomics Research Library, in that it's a benefit that is much broader than you as an individual and has the potential to impact on thousands of people. The other thing I'm most proud of is introducing the NHS Genomic Medicine Service because we still remain in the NHS world leading. Of course, a key part of that is that we have whole genome sequencing now available within routine care, within the NHS for patients with rare and inherited disease and cancer. Obviously not for all of those patients, but for the group of patients that fit within those broad-brush clinical groupings where there is the most need, but also the ability to deliver a diagnosis compared to what we could do from standard of care testing. I think it's those two halves for me with myself being a participant and being part of the NGRL right in the middle. Because, of course, from the NHS Genomic Medicine Service, which is what many other countries are grappling with, as soon as you introduce a whole genome sequencing service within a health system, how do you also continue to support research and continue to populate a research database that can be accessible, access is approved and in a safe data environment, how can you continue to support that? Rebecca: Over to you now, Rich, on what you're most proud of for yourself, but also for Genomics England and being the custodian of people's data, that people have given their data through the 100,000 Genomes Project and they continue to give their data through the GMS. If you could pick up also on the research side, so the role that Genomics England has played in the development of the Genomics Medicine Service and the genomics within the NHS, but also in the wider ecosystem as well in terms of driving discovery and driving answers for the many families and for many patients out there who are still looking for those answers. Rich: I think really there is one word that I come back to quite a lot which is the word together, where the journey that we've been on as Genomics England, me playing my role at Genomics England, but all of those involved across the ecosystem, that key partnership that we have with the NHS and with our participants, but also broader than that into the other people involved in delivering a live clinical service now that we support the whole genome element of. Also, collaborators in research, whether that's in academia or industry, this is a team sport. What I'm proud of most is the impact that we've had together and recognising that when this journey started there was a real vision about the potential that genomics could bring in the coming years because of the changes that came. For example, the next generation sequencing technology, but also the changes in ability to hold and analyse data at scale. I think rightly no one would have pretended to know what the journey was. I think the thing I'm most proud of is that we have navigated that together. In a way, we've continued to learn and we've learnt from the challenges that we have encountered, whether it's through delivering the 100,000 Genomes Project or our work since, because there always will be challenges. The reason that we're so proud of the impact that there has been is because we recognise it's hard to do. I think that point particularly of linking healthcare and research is absolutely key. That's something that we're working with Sue and the teams across the NHS are absolutely committed to and recognising that this is an ongoing learning area. That means learning how we do every element of it, but it also means that marrying clinical care and research is absolutely critical to getting the best outcomes for the system as a whole and for participants/patients individually. We've learnt how to set up a system that works in that way. We've worked through the consent models that patients in the NHS receiving routine care are comfortable with. The models of presenting data de-identified for researchers to use for purposes that those participants are comfortable within, as we call it, a trusted research environment, is a model that comes with challenges in terms of the data access for researchers but is one that is really broadly accepted and we can get to work at scale. I think it's that ongoing learning and that we've now I think shaped an approach to genomics across clinical care and research which no one would say is perfect, but we definitely understand that we've learnt about a model that we can keep iterating on and, crucially, we'll keep learning for participants present and future. So that, as you say, Rebecca, one example of that situation is where families have had a test, whether that's through 100,000 Genomes Project or more recently through the NHS Genomic Medicine Service, if today's knowledge can't find the answer in terms of a rare condition diagnosis, we know that one really important element of that research offer is that researchers will continue to look for answers. If something is found that is relevant, that can be fed back to the clinical laboratories to look at. If there is something that is clinically actionable, that can be reported. Rebecca: Thank you, Rich. I suppose, Sue, we've had a decade of navigation, a decade of learning and a decade of adapting to really take us from the 100,000 Genomes Project to the NHS Genomics Medicine Service. There have been challenges along the way, no less we've had COVID to deal with, a global pandemic. What other challenges have you had to overcome to embed a workable world class service within the NHS, how have you navigated that with your partners such as Genomics England? Sue: What's been really important is actually understanding the challenges. I see the challenges more in the sense of the transformation that we need to drive rather than them actually being challenges. Some of the transformation that was driven through the 100,000 Genomes Project we've actually baked into the Genomic Medicine Service. For example, during the 100,000 Genomes Project we understood the importance of clinical leadership; particularly if genomics was going to be embedded across the NHS for patient benefit, then it would involve more clinical specialties than clinical genetics. Through the 100,000 Genomes Project, we really drove leadership and engagement across multiple clinical specialties. We also drove this whole model that Rich talked about earlier about data sharing for broader benefit, and that benefit has then transferred over into the Genomic Medicine Service. We also recognise that if we were going to hold genome sequence a number of the processes, technical processes that happen within now our genomic laboratory hubs, needed to be standardised with quality and also external quality assurance at the core. That's right from taking a sample from a patient, extracting DNA, the sequencing methodology, whatever that is, whether it's whole genome sequencing of the type of testing within the NHS, so large gene panels, whole exome sequencing, or even smaller gene panels and other types of testing, that had to be consolidated and standardised. When results are returned we needed a standardised approach to results and interpretation. Across all of those areas if we're trying to drive a national approach as we were in the 100,000 Genomes Project and we're now in the Genomic Medicine Service is having an external quality assurance process that can look externally at each of those components that has been an important learning from the 100,000 Genomes Project into the Genomic Medicine Service. A key other element of transformation, and I hope you'll agree with this, Rebecca, was the involvement of members of the public and also participants. So right through the 100,000 Genomes Projects from Genomics England establishing The Participant Panel, through to the involvement of patients and public throughout the national programme for the 100,000 Genomes Project in NHS England, through to the genomic medicine centres that we created at that time, all of that has now been reproduced in the Genomic Medicine Service. So, patient and public involvement is a key part of the delivery mechanism. Finally, we've had to change and continually adapt and develop the underpinning data and digital infrastructure in the NHS. Initially in the 100,000 Genomes Project we standardised the data that was collected for rare disease. We introduced the use of terms called human phenotype ontology system that enabled individual patients and their presenting characteristics to be classified; that's continued on into the Genomic Medicine Service. But still more work to do in the 100,000 Genomes Project, we have to get multiple informatic systems to talk to one another. As we moved into the Genomic Medicine Service, we've both with Genomics England had to develop the analytical pipeline. We've had to develop a system that's enabled whole genome sequencing, for example, to be ordered and then to be returned after sequencing and the semi-automatic analytical pipeline in Genomics England to generate a report that could then be looked at and interpreted in the genomic laboratory hubs and returned to patients. What's been a key part of that has also been the establishment of genomic multidisciplinary team meetings that came out of the 100,000 Genomes Project, but now is embedded into the Genomic Medicine Service. Of course, the difference between the 100,000 Genomes Project contribution and now in the genomic medicine service is to ensure there's equity of access across the country in terms of the testing that is provided. A key part of the way in which the testing is offered is that introduction of the National Genomic Test Directory that sets out the standardised offer that will be funded by NHS England. That's across where an inherited disease or cancers, as well as common diseases and some other pharmacogenomic applications. The challenge always is standardisation, equity of access, and the infrastructure and leadership that makes this happen, together with developing a workforce that is genomically enabled so that it can spread out beyond that clinical genetics specialty into those multiple specialties to make sure that it's embedded. So remain in terms of some of the challenges around making sure that we change clinical pathways where genomics means that we can do things much earlier on in a patient pathway and get a definitive result and intervene. This is particularly important in cancer, but it's not just cancer, it's also in rare disease. Secondly, it's about how do we develop the whole of the NHS workforce. We have 1.3 million people that are directly employed by the NHS. There are another 600 that actually are associated with the NHS through the contracts that they hold. It's a huge task that we still have to undertake to make sure that genomics is available to all. There are two other elements, one we have to continue to take the public with us, and I think we've learnt from COVID that the public does understand now the importance of molecular tests. But there's still more to do as we use genomic information more broadly across the NHS and to drive treatment decisions that might mean that a patient thought they were going to get one cancer drug but they're going to get another because their genomic mutation says treatment B might be better for them than treatment A. We have and will continue to have a number of ethical issues that will arise as we consider whether it's some of the research initiatives that are undertaken or whether it's some of the decisions that might be made within the NHS Genomic Medicine Service or for the use of genomics. That's just a few, but it pulls it together from what we've learnt from the 100,000 into the GMS, what else the GMS is doing, and what some of the challenges are that remain. Rebecca: And a great deal has been done. There are a number of key challenges ahead. As you say, it's been a learning process, it's been a navigation process, but it's been driven by the people, by systems, by people, and they have played a critical role and will continue to play a critical role in ensuring the success going forward. I sit as the Vice Chair of Rare Conditions on The Participant Panel. Rich, if I can come to you next, how has the patient voice, how has The Participant Panel but the wider patient voice been heard and how are their view, their needs being reflected in addressing these four big sort of buckets of challenges and how are we learning these lessons going forward thinking of the new projects? For example, the newborn genome project, The Generation Study, could you give us some examples of how that learning is going forward and we're learning from the past but preparing for the future? Rich: I think it comes back to one of the really key words here is transparency and transparency in a number of ways. One of those is about the fact that this is a journey we're all on together. So, one of the things that was there right from the beginning of the 100,000 Genomes Project before I arrived was putting participants absolutely at the centre of project and the design and then in time that came for us in Genomics England wider in terms of our organisational governance. Establishing The Participant Panel on which you're a co-chair I think was really important for us early on to make sure that participants whose data it is we hold, it's no one else's data, it's our participants' data, are there driving and at the centre of the decision-making process, for example, through our Access Review Committee around who accesses the data. Participants sit on various of our governance groups and that's a template which I think is one that people have seen in various fields as working really well. It's one that Sue has touched on as being looked at and has provided useful input as to how patient and participant involvement has been set up in the Genomic Medicine Service. I think recognising that much of this is us all collectively finding the right path forward is how we approach every question that we tackle. Sometimes that's around really very practical questions. So, for example, Rebecca, you will know we often come to you guys about how we phrase a letter that might go out to participants, because recognising that from the inside of an organisation you see things one way but you might not recognise some of the nuances that are really important. Through to thinking about the really important questions around how we should set up access and safeguards around access that are there and, again, having participants sat on our Access Review Committee is crucial. And on to finding our way in new areas where the Newborn Genomes Programme I think is a really nice example where in many ways it's quite similar to the 100,000 Genomes Project in that it's a research study and it's delivered in partnership with the NHS. It's asking big questions around whether genomics can be used in a particular setting and if so, how could we use it? I think a really critical part of that and one that's been, as you know, sat in a number of the different strands and in the overall governance for the programme, Rebecca, having participants guide us, whether those people who like yourself are already part of the national genomic research library or whether they're people who might join the study themselves, or whether they're people with a different perspective that is important to include, including that engagement work as well as just with the broader public as part of the study is absolutely crucial. Before we even started the design of the study we set out with a public dialogue around attitudes to do with genome sequencing in newborns jointly with the National Screening Committee to understand where public views were to allow us to do a bit of a deep dive, not just a superficial vox pop view on what's your attitude to a one-liner question, but really to work with people on understanding some of the nuances here. There's a lot of nuance in most of the questions that we're engaging with, and then through the programme into different elements, whether that's designing the materials for consent or whether it's understanding how to practically design the process for contacting families or feeding back findings as part of the study, making that part of the process rather than a separate endeavour I think is really crucial. One of the words that I often hear people use when talking about challenging questions around how we make advantages in medicine is around explaining what people are doing. I actually think that's a really interesting word which I don't like. Most of the time this is about dialogue and it's about discovering together what we are doing and it's not people sit in with the best of intentions and with great expert knowledge in a closed room to decide what's the best approach, which is often an easy way to think about how to design a research study, for example, but this needs to be an active process where there's genuine dialogue and we learn and find our ways together. Rebecca: Some great examples there, Rich, of how powerful the participant and the patient is in the designing future services for even more patient and participants going forward and ensuring how needs and views are reflected. But, Sue, it doesn't just happen in Genomics England, there are patients and participants across the GMSAs as well, which is fantastic to see and I sit on the panel at the East GMSA as well. How important was that for you to establish that as part of establishing the Genomics Medicine Service? How important was that for you to ensure that the patient and participant view was there locally as well? Sue: So, I think we learnt from the 100,000 Genomes Project about the importance of patients and participants being part of the research element of the 100,000 Genomes Project and how that was designed, how the different pathways were put in place. In NHS England the patient is at the centre of everything when we come to our services. In all of our major programmes we have patient representatives, patient for an ongoing discussion with patient groups. This was both building upon what we'd created together with the Genomics England Participant Panel in the 100,000 Genomes Project, but then making sure that it fitted with the new genomic medicine service infrastructure that NHS England commissioned from 2018 onwards. It was making it a key part of that, making sure that coproduction with patients and families and really having a temperature check on an ongoing basis about the experience of patients and families of the genomic medicine service that they were experiencing has been a key component of our infrastructure and how we've put the infrastructure together. I always think there is more we can do, there's more we can do to monitor the experience particularly of services. That having been said, we will continue to drive forward the involvement of patients and families in the future iteration of services, whatever that might look like. I think if you put patients and families at the centre, that actually helps you determine the type of services that need to be commissioned nationally, the type of concerns that people have of the service and the experience that's feeding up, but it makes sure that patients and public representatives are part of all the important governance groups. For me, that's where the conversation needs to happen, it needs to happen both at an individual service level but through all the levels of governance that actually govern a service that is commissioned by the NHS in England for the population that is being served. Even if we haven't got it totally right, I hope that we've got it as a key component of all of the services and set out in commissioning specifications such that it's a requirement as is having the technology in place to deliver a bunch of genomic tests. Rebecca: Thank you, Sue. The Genomic Medicine Service is unique in the way that it provides a clinical outcome that is an answer for a patient, and also includes the option of joining the research library which supports further discovery. What are the benefits of this? Sue: The positive benefit of having the National Genomic Research Library has been through the researchers, scientists who've been granted access to the data. To date, we've had over 1,500 putative diagnostic variants returned to the NHS, so to our NHS genomic laboratory hubs, for further investigation, further discussion with clinical teams. About 80% of those have been returned to clinicians and therefore to patients to, for example, give them a diagnosis or to update the diagnosis that they've been given or make treatments available. That is a real positive benefit from that pipeline to individual patients. But also the evidence that's generated enables us to evolve the genomic test directory. It enables us to add to genes if new genes have been discovered to the test directory, changes in eligibility criteria, so it's this continuous evolving learning system. From patients providing samples and their consent for their data to be used to the research library, to the feedback loop back into the NHS that influences both individual patient care, but also the type of tasks that get offered in the genomic medicine service overall. In conjunction with Genomics England we have also been working on an NHS Genomic Medicine Service research collaborative that's enabled us to look at the projects and initiatives that industry or other researchers would like to undertake, would like to have access to samples or to data, and to consider that on the basis of would this support the overall national endeavour in genomics, would it add to the National Genomic Research Library and create that learning system? Is it something that we need to do nationally rather than just locally in a research project? It's making the infrastructure available for those research projects over and above the ones that are part of Genomics England spending review initiatives or NHS England's Genomic Networks of Excellence. But enabling us to work with industry and researchers to support their research endeavours in a way that is contained and make sure that we create and continue to create and add to the National Genomics Research Library and this overall learnings infrastructure. Rebecca: And Rich, anything further to add there? Rich: I think that creation, that word, that learning infrastructure is the key thing there. I think the process that has taken us here where we've worked out how to integrate clinical care and research is so valuable, both for the individual patient and participant and also for the system as a whole, often making the choices that allow us to arrive in the direction actually all point together towards doing the same thing. It's really constructing things around that central vision and I think that is so important. Rebecca: Thank you so much. We've had a whistlestop tour of genomics over the past decade which and improved and informed the lives of thousands of patients and families. But to finish, let's look forward. What is your one hope for the future of genomics within the NHS? Rich, perhaps we could start with you? Sue: I think my wish is a relatively simple one, which is that we maintain this momentum that we've got and we've built together. We're on a journey and it's momentum towards genomics being absolutely part of the day-to-day, the mainstream of healthcare so that wherever you are in the country, whoever you are and often potentially without the clinical teams needing to feel they're doing anything very genomicsy, if you like, genomics is there and bound into the routine care that one has to deliver. I think when we look and we compare ourselves to other countries, because of that link that we've made and that partnership between clinical care and research, we are in a really strong position. It's therefore about maintaining that momentum and getting us to that place where genomics is just a routine part of everyone's care. Rebecca: And Sue, finally over to you, what is your one hope for the future? Sue: What I'm looking for when we put the patient at the centre is that we adopt all of the genomic technologies that would really enable us both to diagnose a genomic cause for patients that of presenting symptoms, or to inform their more preventative or inform their treatment such that genomics becomes part of everyone's pathway of care in the NHS, and that we really maintain the NHS Genomic Medicine Service as the most advanced service within the world and that it continues to work to populate a National Genomic Research Library with Genomics England such that patients can benefit from ongoing analysis and interpretation of their data. That we really become the leader across the world of this learning ecosystem and we give as many patients as possible a diagnosis and that we inform as many patients as possible treatment pathways. I believe we're in the next wave of genomics following the discovery of DNA in 1953, and now it's how do we make genomics available to everyone across where an inherited disease, across cancer, across common and acquired disease and in pharmacogenomics. Rebecca: Thank you to our guests, Professor Dame Sue Hill and Dr Rich Scott, for joining me today. It's been great to talk to you and understand the journey so far and what's ahead for genomic healthcare. Happy 10th birthday, Genomics England, and happy 75th birthday, NHS. Here's to the next decade of supporting patients and more scientific research and genomic discovery to drive home. If you'd like to hear more like this, please subscribe to the G Word on your favourite podcast app. I've been your host, Rebecca Middleton. This podcast was edited by Mark Kendrick at Ventoux Digital and produced by Naimah Callachand. Thank you for listening.  

Join me on this week's podcast episode to hear the intriguing journey of Lamia Samrin, a dedicated paediatric pharmacist at Great Ormond Street Hospital, as she unfolds her passion for paediatrics and pharmacy. From being captivated by pharmacy as a university student, to leading a team in a hospital setting, Lamia's story is filled with inspiration and determination. She also reflects on her early career days at Imperial College Healthcare NHS Trust, or as known then, St Mary's Hospital, in London that laid the foundation for her career in hospital pharmacy. The conversation takes an interesting turn as we dive into the realities of pharmacy residency. Hear how Lamia, with her perseverance, managed to strike a delicate balance between her demanding job and personal life amidst shift work. She shares her experiences making a successful leap into the specialist area of cncology despite initial hesitations, shedding light on the struggle of balancing job loyalty and professional growth. The emotional turbulence associated with leaving a job is also candidly discussed.  The ever-evolving landscape of pharmacy practices is also on the table. You'll get a scoop on how pharmacy is shifting from inpatient to outpatient services. Lamia sheds light on her experiences with electronic prescribing, its benefits and the challenges it brings. The intricacies in paediatric oncology pharmacy and how Lamia's role in NHS England intertwines with her work at Great Ormond Street are also discussed. In a high note, Lamia shares her aspirations of becoming the first paediatric oncology consultant pharmacist, emphasising on the importance of celebrating wins along the journey. Join us in this insight-packed episode that takes you behind the scenes of paediatric pharmacy. PARTNERSHIPS: The Naked Pharmacy is offering my podcast listeners a 20% discount on all their products. Use discount code PD20 at checkout to receive the offer. Sunjay Vyas, my husband and videographer, is offering my podcast listeners a one-off 20% discount for videography services. Maybe you want to launch a podcast. Maybe you want to turn a hobby into something more. Or maybe you have a creative project to share with the world. Whatever it is, the way you tell your story online can make all the difference. Book a call with him using the link above! SUPPORT THE PODCAST: As I continue to grow and evolve this podcast, I am committed to bringing you inspiring and empowering content. But in order to do that, I need your support. I've set up a Buy Me a Coffee donation page where you have the opportunity to donate a coffee (£5). You'll be helping us invest in the infrastructure, equipment, and team needed to take Pharmacist Diaries to the next level. With your help, we can continue to inspire and empower pharmacists around the world, and create a community that supports and uplifts one another. CONNECT WITH LAMIA: LinkedIn: Lamia Samrin-Balch FILMED AND EDITED BY: Sunjay Vyas Follow me on My Website, YouTube, Instagram, Facebook, LinkedIn, and/or Twitter. Feel free to subscribe to the podcast on your favourite podcast platform so you can be notified when a new episode is released or leave a review on apple podcasts. If you have any suggestions for guests you want me to talk to or if you'd like to come on yourself, please feel free to contact me via social media, or email at info@pharmacistdiaries.com.

In this episode, sponsored by Savlon Scar Prevention Gel, Kate talks to Nurse Angie Jay. Angie is about to give birth to twins, and as a black woman she is passionate about shining a light on the stark difference in pregnancy related deaths between black and white parents. Join Kate and Angie for this raw & honest discussion and listen to Kate and Angie's plans for diversity in postnatal education.Angie is a paediatric trained nurse with experience of working at Great Ormond Street as a theatre nurse, in children's A&E, and in her current role as a school and safeguarding nurse visiting schools to support children and their health needs. Angie is a Mini First Aid trainer and trains people internally, to make sure there is an inclusive mindset across the organisation. She has appeared on a number of programmes, including BBC 1Extra, talking all things sexual health with Richie Brave.Show Notes:The Mini First Aid Family Health podcast is sponsored by Savlon Scar Prevention Gel. Savlon Scar Prevention Gel helps soothe pain, promote faster healing as well as reducing the risk of scarring when used on minor wounds, superficial burns, and grazes. Buy Savlon Scar Prevention Gel Here.References:Read the Blog: Diverse Perspectives - First Aid on Black and Brown Skin Mini First Aid Family First Aid Kit - Platinum Award winning first aid kit, voted a Best Buy in the Loved By Parents Awards 2021, is a comprehensive first aid kit for all the family. Containing 115 essential items, it is ideal for keeping in your car or at home for any first aid emergencies.Find out more about our multi award winning two hour Baby & Child first aid classes here, delivered in a relaxed and comfortable style to give you the confidence to know what actions to take if faced with a medical emergency.For press enquiries and to contact Mini First Aid, email info@minifirstaid.co.uk

Welcome to LUNA Listens! This is where we publish all our blog posts in audio form for you to listen to at your own pace. Today we have the privilege of being joined by one of our Professional Advisors Dr Merry Wilkinson. In this post Merry shares with us a part of her research at Great Ormond Street hospital on Juvenile Dermatomyositis. Merry breaks down and explains what JDM is and why it is important to learn and know about it during myositis awareness month. You can find a full transcription of the post by clicking this link. Find us on: Instagram - @thelunaprojectuk Twitter - @theLUNAprojectt Facebook - The LUNA Project

Skip the Queue is brought to you by Rubber Cheese, a digital agency that builds remarkable systems and websites for attractions that helps them increase their visitor numbers. Your host is  Kelly Molson, Founder of Rubber Cheese.Download the Rubber Cheese 2022 Visitor Attraction Website Report - the first digital benchmark statistics for the attractions sector.If you like what you hear, you can subscribe on iTunes, Spotify, and all the usual channels by searching Skip the Queue or visit our website rubbercheese.com/podcast.If you've enjoyed this podcast, please leave us a five star review, it really helps others find us. And remember to follow us on Twitter for your chance to win the books that have been mentioned in this podcastCompetition ends July 31st 2023. The winner will be contacted via Twitter. Show references: https://www.english-heritage.org.uk/https://culturalenterprises.org.uk/https://www.linkedin.com/in/kingston-myles-080088118/ Kingston Myles is Head of Commercial Development at English Heritage. He describes his role as “seeking out and executing opportunities to generate new income for the charity and improve on processes to reduce expenditure”. Kingston is responsible for a number of growing and emerging businesses that intersect the Charity and its assets (sites, collections and brand) with commercial businesses (Venue Hire, Licensing, Holidays and Compliance). Kingston has a varied background and prior to joining the heritage sector in 2017 worked in numerous venues and across several high profile events including Glastonbury Festival. Kingston has a passion for both sustainability and equality, he describes this passion as being a positive culture amplifier. He plays an active part of driving change from within – currently sitting on the Organisations EDI Steering Group and is the founding member and chairperson of English Heritage's BAME Staff & Volunteer Network. Kingston is driven by wanting to see more senior leaders that are representative of society across the arts, heritage and cultural sector. Kingston is also a Trustee for the Association of Cultural Enterprises – a sector supporting organisation focused on the advancement of commerce in the cultural sector. Transcriptions: Kelly Molson: Welcome to Skip the Queue, a podcast for people working in or working with visitor attractions. I'm your host, Kelly Molson. Each episode, I speak with industry experts from the attractions world.  In today's episode, I speak with Kingston Myles, Head of Commercial Development at English Heritage. Kingston shares his insight into where the biggest opportunities lie for diversifying income streams and his top three tips on how attractions of any size can utilise these strategies. If you like what you hear, you can subscribe on itunes, Spotify and all the usual channels by searching to Skip the Queue. Kelly Molson: Kingston, thank you so much for joining me on the podcast today. I'm very excited to have you here. Kingston Myles: More than welcome. Kelly Molson: Hopefully you'll feel as excited after I've asked you the icebreaker question. Who knows. But let's go. Right, this is quite topical for today, so I want to know, what are you most likely to buy when you exit through the gift shop. Kingston Myles: Me personally, probably a bottle of gin or alcohol. That's probably my go to when I leave through the gift shop. Kelly Molson: Good choice. A gin man. A man of my dreams. Not going to lie. Okay. All right, well, this is another one that leads on from that, actually. Do you have or have you ever had a collection of anything? Kingston Myles: Yes, when I was growing up, I had a collection of the James Bond videos and used to put them all together on the shelf and they used to paint a picture and that one was missing. My nan used to buy them for me when I was a kid and, like, only one of them was missing right up until videos kind of got killed by DVD and DVDs got killed by Netflix. So, yeah, I guess that was probably the one thing I can remember having, like, a proper collection of. Kelly Molson: Did you ever get the missing one? Kingston Myles: No, it was like number 13, I think, from memory. Not that it's bugged me for all these years. Kelly Molson: Look, someone listening to this is going to send you that now. They're going to hunt it down on ebay and be like, “Look what I found you”. Kingston Myles: And I'll be in the loft digging out the videos and then trying to find a video player. Kelly Molson: Have you still got them? Kingston Myles: I think they're still at my parents house and they're lost. Yeah, we don't throw stuff away easily. Kelly Molson: No, we're hoarders as well. It's really sad, though, isn't it. Because my mum did this when I was younger with Disney videos. So every new Disney film that came out on video, she bought, and I think she was thinking, “Oh, this is lovely. You know, one day I'll have grandchildren as well and they can watch them”. Kingston Myles: Yeah. And then streaming came along and now we've kind of just got everything at the click of a button. Kelly Molson: Disney+ mum, taken over. Right, good. I like this. Okay, last ice breaker question. What's the best attraction event that you've ever experienced? Kingston Myles: I went to the Ally Pally fireworks last year, which is the big fireworks show for London. And I'm not a Londoner, so you've got to imagine, first of all, I was in South London and I told friends I'll pop up and see them. There's no popping from South London to Ally Pally, as I found out the hard way. But I've just never seen a pop up one night fireworks show on the scale of that with like, the infrastructure and all the different bits that kind of make it what it was. I really underestimated it. I thought, I will turn up, there'll be like, a few burger vans and like, a bit of music and a bar. No, it's this just incredible pop up experience that takes over Ally Pally. Kingston Myles: So that was probably the one that surprised me most because I went thinking it would be like every other sort of local firework display and it was huge. Kelly Molson: Everybody rates this. I've never been to this. I can remember years ago, ice skating at Ally Pally, and I used to have to get three buses to get to Ally Pally to actually do that. But everybody speaks so highly of this fireworks attraction. Fireworks night. Kingston Myles: Never been. It's phenomenal. It's huge and there's literally tens of thousands of people go to see it. So it's definitely worthwhile going to. I think also it's one of those once you've been to it, you want to go and find something else because the magic will probably fade potentially relatively quickly and there's lots of other incredible displays around London, but it's definitely a worthwhile experience. Kelly Molson: Excellent. Good choice. Wasn't expecting that. Okay, right, your unpopular opinion. What have you prepared for us?Kingston Myles: I think my really unpopular opinion is that actually we over-index our focus, especially in the culture and heritage sector, on gift shops, on catering and on membership. And actually the future is way beyond that. So that's probably my unpopular opinion. We over-index on shops and cafes and forget that there are dozens of other ways that you can generate income. Kelly Molson: Oh, I like this. And very topical for the things that we're going to talk about today as well. It's an excellent lead into the conversation. Okay, well, we are going to talk about diversifying income streams today. Your role. When we spoke pre interview, we had a brilliant chat and I just found your role so interesting and so diverse. Can you just share a little bit of what you do with our audience and kind of what your tasks are with achieving?Kingston Myles: Yeah, sure. So my official title is head of commercial development, which is best summarised as being responsible for this kind of incubator of business growth and efficiency. So I'm responsible for four business areas within English Heritage: our brand licensing program, our portfolio of holiday cottages, and our venue hire business. And those are all income generating parts of this sort of incubator and then also responsible for managing a suite of national contracts. So the provision of services to all of our site operations teams and that's really about looking at efficiency opportunities, the chance to rationalise contracts and reduce perhaps the supplier debt that we have in terms of the number of suppliers we're working with so we can get better value for the charity. Kingston Myles: But all of those business areas are kind of unique in that they've got such scope to grow at a point they will eventually have their own, hopefully their own allocated head of department when they sort of graduate my care and then something else will fall into, I'm sure, my sort of pool. Kelly Molson: It feels quite entrepreneurial, your role, is it quite a unique role for English Heritage or is this something that you've kind of defined for yourself within the organisation?Kingston Myles: Yes, I'm the first head of commercial development. The role was created back in 2020 with an initial focus on looking at brand licensing and contracts and compliance and then there was sort of an opportunity to pull the holiday cottage piece in as well. And then various sort of personnel and structure changes meant that I inherited the venue hire business, which is exciting because it's kind of the closest thing to sort of my previous job roles, sort of pre culture and heritage, but yeah, it's definitely unique in a sense of various business areas rather than sort of one specific focus, that traditional focus of having either like ahead of retail or ahead of catering, which we do have all head food and beverage, but within the cultural sector, sort of heads of business development, heads of business innovation, change, transformation. Kingston Myles: I mean, they all sound very buzzworthy, but there are definitely more and more roles emerging as institutions say, well, actually, how do we diversify our income streams. Strike up more partnerships. We kind of need somebody who is almost like a paid entrepreneur and I'm so privileged in that. That kind of really is my job. I'm paid to be entrepreneurial without the risk of having to invest all my own cash and capital into an idea, Kelly Molson: It's the perfect role. Kingston Myles: Yeah, definitely. Especially because when it's successful and when we do great things, they contribute towards this sort of wider charitable purpose. So you get this real benefit of creating a business, but that business has this incredible sort of halo effect of doing good because we all work for a charity. Kelly Molson: Yeah. So it's the warm and fuzzy feeling as well. You mentioned just briefly there that your roles previously outside of the sector, what were those roles and how have they helped you with this role? That's quite an interesting thing to understand. Kingston Myles: So I used to work in bars and nightclubs, hospitality and events, sort of a real event and hospitality sort of butterfly as that industry kind of is. You kind of chase progression, opportunities, new openings, there's always something sort of shiny and new moving in the hospitality space and managers move around a lot. But I think the transferable skills from that, it's everything from just general business operations and financial acumen which especially if you're in an independent operator, you're really close to both the PNL but also the balance sheet and cash flow. And then also kind of innovation and that entrepreneurial spirit that sort of need to be able to grow a business, whether that's more people through a door, a higher transaction value or a more efficient control of your suppliers and contractors, kind of it's all transferable into the sector. Kingston Myles: And there's this kind of really interesting change in the sector at the moment in that more and more people are transitioning into the sector. Rather than kind of perhaps growing through the sector, it's becoming more attractive as a sector to work in, which is exciting because it used to really be a case of sort of join and you had to work your way up, whereas actually the sector is recognising those transferable skills, add value, especially in this current climate. Kelly Molson: Yeah, I like that take on it, actually, because we have a lot of guests that come on that work within the attraction sector that would start at quite a low level entry point and then work their way up. You're probably the first guest that's come in from a completely different perspective. It hasn't been your beer or endo. You haven't had this huge desire to work in it from the minute that you came out of school. You've transitioned from something that's completely different but really transferable. So I'm excited to hear where today takes us. All right, well, let's start. What I'd like to understand is how attractions start that process of diversifying its income streams. You talked a little bit at the beginning about we're quite tied to admission fees and membership and retail. How do they start to look beyond that?Kingston Myles: Yeah, I think part of it is taking stock of what you have. If you've got big open green spaces, then great. You could focus on large third party events, working with production companies and clients and promoters. If you've got this really interesting design Led collection, or if you've got a really interesting story to tell, then perhaps it's more around sort of brand licensing and leveraging the intellectual property. So I guess step one is asking, what do I have beyond my shop, beyond my Cafe, beyond admissions. What product could I create? Kingston Myles: And what product is going to be the easiest to create is probably the best place to start because I speak to a lot of colleagues within the sector or a lot of sort of commercial managers within heritage and culture institutions that are like, right, well, we want to do everything that your job does. And I'm like, well, you don't have a portfolio of properties that could be transformed into high quality lets or accommodation. Never going to have a holiday business. So don't try and squeeze glamping into this really small corner of your estate. Focus on something else. So, yeah, I guess it's taking stock is key. Kelly Molson: That's really good advice, isn't it. And I guess it's looking at what you already have and making the most of it, which is a message that is quite key at the moment, where we're seeing budgets being marketing departments all over. You don't have to necessarily start from scratch. It's just about making the most of what you already have and developing that into something that you've already got quite a captive audience for. Kingston Myles: Yes, definitely, 100%. Kelly Molson: Great. Okay, so what are the areas that look quite exciting at the moment. If we're an attraction. Where can you see some of the biggest opportunities?Kingston Myles: Yeah, I mean, so filming location hire. We've seen this huge boom in domestic filming location hire. Domestic film shoots, domestic productions, regional screen tourism offices are popping up. There are some incredible partners within the film sector. Film London, Creative England, Screen Yorkshire, sort of all these bodies that really drive trying to connect people with great spaces to production companies that want to film domestically. And I think as we see the kind of challenges of the cost of global travel and the strength of the pound in the sort of wider economic world, although I'm not an economist, sort of change, there's a real opportunity to capitalise on productions that say, actually, we can unit base. We can produce here, we can shoot here. We can shoot on location. We've got this tiny little island, the UK. Kingston Myles: And I predominantly focus, obviously, on England because of my role, but we've got this tiny little island. But there's so much in it, so much to see, so much diversity. So I definitely think there's an opportunity to unlock more spaces for filming a location hire, for sure. Kelly Molson: Yeah, that's a great one. I guess that's relevant. If you have a stately home, for example, it's a perfect opportunity. But it kind of doesn't matter what your attraction is, right. Because we've seen TV shows be filmed at places like Bembom. I call it Bembom Brothers. But Dreamland in Margate. We've just seen a film that's been released very recently that's been shot as part of that. And I guess so there's opportunities regardless of what the size of your attraction is and what it actually is as well. Kingston Myles: Completely. And I think it's about for each attraction, they'll have unique challenges. If you're a high footfall visitor attraction, sort of a theme park, for example, then yeah, you're going to have the conflicting challenge of foregoing admissions revenue to potentially reduce your operating capacity to shoot a film. If you're the custodian of a collection of national significance or an indemnified collection of art, then you're going to have all of the unique challenges of working in a space with all of the environmental controls required to protect pieces of artwork and historic collections. And if you're an independent stately home, you're potentially going to have the challenges of the knowledge base required to execute a filming location hire, sort of safely, efficiently. So I think each part of the attraction sector is sort of a whole when you sort of that really broad spectrum of attractions. Kingston Myles: Each will have their own unique challenges. There's a real benefit in networking and learning and working with those within sort of business specific areas that already do it and do it well. So, yeah, hopefully that helps. Kelly Molson: Definitely helps. We'll talk a little bit about sector collaboration later as well. So I've got a few questions around that. What does English heritage do. Can you share some of the examples of the diversity that you've been able to develop within the organisation?Kingston Myles: Yeah, so staying on the subject of filming location higher, as an example of an income stream that isn't purely based on what people might perceive, which is we've got historic properties, so they must just do period dramas. Actually, we make our properties available for blockbuster films. Obviously, I can't disclose what those are, but there are some that are in post production, which I'm really excited to see how they bring our properties to life in these really incredibly creative and thought through worlds and spaces. But it doesn't just have to be big major film shoots. We work with fashion houses, brands and editorial magazines to provide spaces for photo shoots. Kingston Myles: And then of course, within that same genre, we work with individuals, couples who might have a real affinity to a property that want to shoot an engagement shoot, or a wedding shoot, or a celebration of life shoot. So there's a real broad spectrum in that you don't have to suddenly close everything and have these massive film crews turn up with all these incredibly ginormous, almost intimidating pieces of equipment. It could just be a really lovely local couple that met at a property that are getting married down the road and on the day of their wedding, what they'd really like to do is jump in their wedding car, pop up, take some photos for a couple of hours and leave again. So it's that real spectrum of like two people in their camera person to two to 500 person strong film crew. Kelly Molson: I love that as well because that it means that regardless, again, of size of attraction, there's still something that you can offer in some way. And I think that's really important to point out is that these strategies, they aren't just for English Heritage is a very large attraction organisation, but it's not just for those. There's plenty that the smaller attractions can take from this as well. What other things does English Heritage do? Because I know that you've got partnerships. I know you mentioned holiday lets.Kingston Myles: Yeah. So we've got an incredible portfolio of holiday lets. So we're really unique in all of our holiday lets are situated within sort of the boundary of our properties and then when the properties close in the evening to guests that are staying overnight, so day guests leave and our overnight guests can sort of explore the exterior spaces and gardens and landscapes overnight. So they're really popular. We're really lucky to welcome sort of just over 1300 holidays a year across our portfolio, which is exciting, and that's an expanding portfolio. So we're imminently about to open a new holiday at the Head Gardeners House at Audley End in Essex, and that's been through a renovation process. So that was sort of bringing the property out back into use. Kingston Myles: And we opened a property at Rest Park, which is not too far from Audley End End in 2021. But it's not just sort of holiday lets and filming. You know, we've got the brand and licensing program. So it's really about rather than sort of doing something at our site, if you kind of, you know, generalise the holiday business and the venue hire and filming business as sort of something that's happening at site, there's an activity at one of our properties. Our branded intellectual property licensing business is all about unlocking the assets that we have in the collection to tell the story of England we're really uniquely placed as English Heritage. Our CEO, Kate May referred to us once as the sort of the Museum of England, which is a really nice way of looking at the stories that we can tell. Kingston Myles: So our brand licensing program will do the things that one would expect. We'll use an incredible archive of wallpapers captured from properties over the years in sort of design led work. But we also try to work with a range of licensing partners or licensees that adopt some of our core values. Are they established English business manufacturing in England with some really incredible conservation and stewardship credentials? Are they celebrating sort of traditional ways of working. Because we're not only this sort of steward of nearly 400 historic monuments and the blue plaque scheme in London, but we're really here trying to preserve the sort of art, the craft, sort of the true vibe of Englishness. So we get this real opportunity to play from sort of design led work right through to sort of culture, craft and Englishness as a brand itself. Kelly Molson: Oh, my goodness. I have so many questions on these, but also a statement. I live like five minutes from Audley End and I had no idea that you were opening the Gardener's Cutters as a holiday let. I actually had no idea that English Heritage had a holiday let side to its organisation. So this was all quite new to me when we first spoke. What I really love about it is it really drives into the message that we're hearing more and more frequently now as we come through into 2023, that people are willing to pay more for something that is a really unique experience. And when you mentioned there about the holiday lets and people can then walk around the gardens at night and get a completely different I just thought, “Oh my goodness, I had no idea that you could actually do that”. Kingston Myles: Of course. So there's like an added reason to go and stay book somewhere. That's beautiful. Obviously it's going to beautiful, it's an English Heritage property, but you have this unique opportunity to explore the place that you're in when nobody else is there at a time that you would never, ever be able to be in it. And I just think that's amazing. Kingston Myles: Yeah, they're phenomenal and we've been really lucky. We've worked really hard tirelessly to drive up the quality of our offer. So we started a refurbishment program of our holiday estate towards the end of 2020, 2021. We're sort of now sort of at phase three of what will probably be five phases of bringing all of those holiday lets up to standard. So at the moment we've got a suite that are being refurbished as we speak. When the Head Gardener's House opens up Audley End, that will be sort of kitted out with I mean, the kitchen is beautiful, but so is the interior. And it's not just a case of, well, actually if we just thrown a load of stuff in there, we work really closely with the business that won the tender for the refurbishment. Kingston Myles: So we're working with John Lewis on that property and we work with their interior designers. We're trying to create and I know we'll touch on it later, but we're trying to create these experiences where actually, if you really enjoy being in one of our holiday cottages, you can go away and you can buy pretty much anything you see inside. And as much as possible, as the licensing program evolves, those products will be English Heritage products. So you'll be sat below a wallpaper that's inspired by a clipping from a collections archive down the road that actually was in a building on. So we have this incredible piece of wallpaper from Great Ormond Street. Kingston Myles: So the same road as the famous hospital that's used on product, and you'll be able to go and buy that, but you also might be able to buy it on a cushion or on home furnishings or on a bed spread, but you get to experience the quality of it first and then you've really got this sort of continued storytelling. Like guests don't just leave because they've checked out, they kind of take a little bit of us with them, which is the aspiration, and I think it's what the Premier ended this years ago. They had this whole campaign where you could buy the hypnos bed that you slept on in a Premier inn. And they were one of the first brands to sort of say, all we are as a Premier inn right. Kingston Myles: But if you had a great night's sleep, have this great night's sleep at home, because you can buy the same bed that we have. So, yeah, it's just kind of trying to perfect that wheel, if you like. Kelly Molson: You described it as experiential shopping, which I think is a great term. And I just love how many facets are waving into this in that you're celebrating artifacts, artwork, craft that has come from, you know, all these incredible places, and you're allowing people to now stay in a beautiful holiday cottage, purchase part of that experience to take home with them. If that's not diversifying countries, I don't know what describes it any better, to be honest. Kingston Myles: Yeah, and I mean, you know, as a charity, we're on this incredible mission to be financially self sufficient. So, you know, we are an independent charity from 2015, so and then this financial year is the last year that we received sort of government tapering relief. So we're really out there to become much loved to connect with our members, our visitors and our audience. And what better way to do that than not only offer them a great day out. Because that's like a core part of what we do. Offer them a great day out that really tells the story of England, offer them this opportunity for a great stay out that tells the story of England, and then an opportunity to sort of take a piece of that. Experience home with them or to go and shop for that experience. Kingston Myles: Because we'll never be able to put a three piece sofa or a kitchen in one of our retail spaces. They're gift shops. They're exit through the gift shops. They're incredibly well run by my colleagues in our retail team. So how can we do that? How can we showcase those other products through our holiday laps, et cetera.Kelly Molson: Yeah, it's brilliant. If I can ask you a little bit about partnerships, I just think that this is so relevant to this part of the conversation. But what I'd love to understand is how you define what a good partnership looks like. How do you choose the products and how do you choose the organisations that you do partners with? Kingston Myles: Yeah, I guess the first thing to say is, and I can touch specifically on products because we have a real robust roadmap for how we choose who we're going to work with when it comes to sort of licensees. And partners to create product with in that aspect, but broader than that sort of partnerships for us. Touch on. Especially for me, on all of our business areas. So we've just closed a 30 night Christmas light trail at Kenwood in northwest London, which we run in partnership with Kilimanjaro Live Christmas at Kenwood. And we are hosting again Gardener's World Autumn Affair, and Audley End in Essex, that will be there for the second year this year. And we run that in partnership with the team behind Autumn Fair. Kingston Myles: I guess I bring those up because it really symbolises how partnerships work best for us, which is that there's an equal contribution where both parties are adding value. It could be really easy to mistake working with a charity or working with an attraction as potentially very one sided. We need, they have, or they have and we need, but actually it's not. We've got this real opportunity to grow combined audiences, add combined and shared value and celebrate sort of everything that stands true in both camps from a value perspective. With products, it's a slightly more robust roadmap because we are manufacturing something, we're creating something that's going to carry our trademark, our logo. So we have five core values that I apply to our licensing business. So we look for products of quality, we look for products which carry hallmarks of authenticity. Kingston Myles: Are they telling a story accurately? Because we are the storytellers of England, it has to be, right. Are they responsibly sourced? Is the organisation a responsible organisation. Is it fun? Because ultimately fun is one of our core values and it can sound really cheesy when you say one of our corporate values is fun with a capital F. But no, we are fun. We're ultimately a day out for lots of people, for nearly sort of pre pandemic, 10 million visitors a year and our 1. 2 million members. And then with products, we look at sort of, is there something imaginative here. Are we doing something different. Are we going to tell a really cool story of England in a way that people might not expect. Kingston Myles: Or is English Heritage as a brand going to appear somewhere that you might not expect but are sort of surprised and delighted by. And you could, I guess, engineer those values back over all the other partnerships that we have as well, because actually they're all of quality, they're all authentic. Everyone that we work with is respectful and responsible and lots of the stuff that we do, especially the events, are really fun and imaginative. So, yeah, I'm going to go away and add that into my own strategy now. Kelly Molson: I'm glad that you've been inspired by this conversation. What I really liked about that is that the way that you describe the products is that they're very unique to your values and very unique to your organisations. And that's what people are looking for, isn't it. They don't just want another cushion with something on it. They don't just want another thing that they can buy. They want something that they can only get when they visit your organisation. They can only get it if they go to Audley End. They can only get it if they go to it wherever else they go to. That's what's really important to people at the moment. That uniqueness completely. Kingston Myles: And I think one of the cool things about our brand licensing program is that we are loosely making products. We make the products available on site as much as we can and off site with retail partners, but you'd never normally expect to walk into. So I walked into Sainsbury. So I used my very first ever job, when I was like 18. I was on like I took a gap year and I guess a big regret. I should have just gone traveling it's in the world, right. But instead I was like, no, I'm going to work, I'm going to save, I'm going to go to university, I'm going to be really responsible. So my first average job was in Sainsbury's, and I went back to that Sainsbury store in Barnwood in Gloucester and I walked into the Beers, Wines and Spirits aisle. Shock. Kingston Myles: People are going to get a real perception of me here and they're hanging there on a Clip strip. I mean, I knew they were going to be there. Their hanging there was this chip shop, Scraps and Fries, a crisp product that we made with our partner, Made for Drink. So, you know, here I am, sort of twelve years on stood, you know, the shop still feels the same. You still recognise some of the colleagues stood in the Beers, Wines and Spirits are looking at this product that is made in partnership, crafted in partnership with Made for Drink. They're carbon neutral when they're produced, they're in recyclable packaging and they celebrate sort of flavors and stories of England through food. And it's an English Heritage product in a Sainsbury. Kingston Myles: It's not necessarily the type of product that people might expect to see our brand on, but actually when they learn about the story and then they learn about the partner that we've partnered with, they're surprised and delighted, and I always like to share. We had several different reach outs from prospective partners to create snacking products, crisps, et cetera. And we chose to go with Dan at Made For Drink because they best matched all of those values. I spoke about sort of quality, authenticity, respect, imagination and fun, rather than perhaps maybe a global snack manufacturer that, yes, we could have made tens of thousands of packs, but it would have been just our logo on just another bag. There wouldn't have been the depth of storytelling. Kingston Myles: And then when you look back to us being that sort of Museum of England with our sort of ambition of telling England's story, you kind of have to really stay true to those values to create a quality product and to create lasting partnerships and relationships. We don't want to feel like we have something. Our logo, they want it, great, have it. And then what do we get beyond that. Very little. Whereas with the partnership with Made For Drink, there's been lots of innovation. We're getting to work with lots of domestic food producers and flavor houses. So it's really exciting and it really kind of embodies everything that partnerships should for an attraction or a cultural organisation. Kelly Molson: A great story. So did you feel secretly pleased when you were stood in that same Sainsburys that you didn't go on that gap year and that you did save up and go to university to do all these wonderful things. Kingston Myles: Yeah, I felt a bit smug because I was like, from the shop floor to the shelf, this guy. So I had a little moment in the aisle and I took a little selfie and did that thing that everyone doesn't post it on LinkedIn, sort of with all of the sort of faux pas of the average LinkedIn post ending on a rhetorical question. But yeah, so it was a little moment of joy as I took it and I went through the self gang check out and bought it. And I was like, yeah, here we go. And I've got the receipt somewhere. It's nostalgic. It was fun. Kelly Molson: That's brilliant. And well deserved as well. Congratulations. Great story. Okay, what I'd love to do, we talked a little bit about how a lot of the strategies that you've worked through are they're not just for huge organisations. There are things that any size attraction can do. How can they utilise these strategies. Is there any way that you could summarise kind of like a top three tips for us. Kingston Myles: Yeah, so I have, like, I'm really a staunch believer in the working methodology, “Know, do and review”. So that'd be my first tip. Right. Know what you can't do. Because all the way back to sort of our first part of the conversation, like, know what you can't do, know what you can do. So take the time to look at, take stock, understand what you have, what you don't have, what you might need to be successful, then get on and do it. Because I'd say all managers at some point have definitely written or all leaders have definitely written a strategy that they've then done absolutely nothing with other than PDF it and shove it in a OneDrive or a folder somewhere. So get on with the doing, which is so important. And that means rolling up sleeves. Kingston Myles: You can't be a bedroom leader. You have to get out. Get out on the ground, stand there and really understand if, “Did I know everything or do I need to know more?”. So you're constantly learning through the due process and then review, right. Like, stop and wrap it up or think about it, perfect it, tweak it, don't let it just roll downhill, out of control. And equally, don't hold it at the top. Sort of afraid to let go, but yeah. So no do and review would be my first tip. My second tip, especially for smaller organisations, so the institution I worked in prior to English Heritage, so I worked for the University of Oxford in two different museums. One very big museum and one very small museum. My second tip really comes from there. Which is one meeting, one topic, one focus. Kingston Myles: When you're in a smaller institution stakeholders often have really wide reaching job remits and they're covering operations, commercial planning, health and safety, finance. You could be talking to the same person for all of those things. So don't sit down with that person and have a million different conversations. Really focus your time and energy one meeting, one topic, one focus. And I still use that to this day. I'm a real believer in like let's just talk about just this and then let's have a separate meeting to talk about something else. And then my final tip would be like the Power of no. I sound like I'm about to release three books, don't I. First book, know, do, review with Kingston. Second book, one meeting, one topic. Kelly Molson: And I would read these books. I would buy these books and read them. Kingston Myles: I'll brand license them and I'll put them in the holiday cottages. But yeah. The power of no. Right. It's okay to say no to things like if in the no process when you're doing all the research and all the groundwork does it not feel right. Do the numbers not stack up. We have human instinct and we've almost been programmed out of that. And there's lots of different analogies people run down and different avenues. Is it because actually we've got this hustle culture and we have to give everything a go. No, you don't have to give everything a go. If your expertise and skills and knowledge are telling you this is not going to work then just say no. And that's sometimes a really difficult decision. Kingston Myles: And I have lots of conversations with people recently I really want to do this but and I'm like if that butlist is factual and it's going to create a great amount of risk and don't do it. So yeah, the Power of no would be my third top tip. Kelly Molson: That is a great top tip for life in general, I think at Kingston. Weirdly. So every year I kind of set a word that I try to use as a guide for my year and this year's is reflect because I'm a bit of a people pleaser. So I say yes to many things and then run out of time and then end up not being able to do those things or just do them as badly. I do them to a level of degree that I could do better. So learning to say no I think is the most powerful tip that you've shared in that process and I'm going. Kingston Myles: To remember that and I've used it and I'm proud of the fact that we've said no to potential partnerships, we've said no to potential events. We've said no to certain activity types at certain types. Because when we take stock of everything we're trying to do there's already so much we say yes to that actually it's okay to say no because we can do really well over here. You know, the sort of the middle area. You know, sometimes the entrepreneurial spirit in you pushes the yes through. But a lot of time that sort of, “hold up, wait a minute”. Actually, no. It is so important and it saved us from going down in so many of my job roles.Kingston Myles: It saved me from going down like the rabbit hole of sort of you convince yourself that then you have to put all your energy and time into something and actually it doesn't yield the result that time could have yielded if you'd have focused somewhere else. Kelly Molson: Yeah, it's really important advice that everybody should listen to. Thank you. Brilliant tips. Thank you for sharing. You just touched on something there that I'd like to talk about because you talked about entrepreneurial spirit and I think there always is that element of wanting to do more and wanting to get stuck into doing the excited things. We talked a little bit about sector support at the beginning and you did mention that this role is quite relatively unique. Where do you go to find your kind of support network for the role that you have. Kingston Myles: So I'm really lucky in that I'm a trustee for the Association of Cultural Enterprises, so I sit on their board of trustees. I'm also a director of the trading company that we have. And the best way to summarise the association is that it's all about advancing commerce and business innovation in the cultural sector. So I appreciate that for sort of the wider attraction sector sort of culture and heritage is a swim lane sort of in the pool that is attractions. But that's incredible because all of the organisations that are members and nearly 400 cultural organisations are members sort of across the country, all of those organisations have got an appetite to do more. Kingston Myles: So you end up finding that actually this commercial manager in this really small museum somewhere has got this really incredible idea and we can help them with that, or I can help them with that, or one of my fellow trustees can help them with that, or this massive organisation wants to turn to a small organisation because they send something incredible. And I always think back to and I referenced the marketing of this, but there was the Museum of English Rural Life had this incredible Twitter explosion with some of their content, and suddenly everyone turned to their monsoor. How do you go viral? How has Murray gone viral? How can we go viral? And I guess the association is the best place to go and find the person likely to behind something commercially innovative. Kingston Myles: If you want to see something incredible that's happened at English Heritage, I mean, I'll shamelessly promote myself, but I'm probably likely to be able to point you in the direction of the commercial leader responsible for that. And everyone's really up for networking there. It's kind of the backbone of how it works is that willingness to share and support one another. And I think the culture and heritage sector within the attraction space is really good at that because we're quite comfortable with the fact that there's enough success there for everyone. I appreciate that. When you've got a competitor potentially down the road and you're a purely commercial attraction that's a little bit of a difficult conversation to have in the first instance. But actually it opens up doors and access to resources and also access to people's mistakes. Right. Kingston Myles: Like, what if people said no to. Or would they have said no to. Now that you can learn from and say no to yourself. Kelly Molson: Yeah. Again, brilliant advice. And it's so good that there are organisations out there that offer this level of support. What we'll do is everything that we've talked about today we'll pop links to in the show notes so you can access information about English Heritage. You can see some of the products and we'll pop the link to the ACE organisation as well. And if that is useful to any of our listeners you'll know where to go and find it. Thank you so much for coming on and sharing. Kingston. This has been a brilliant chat. I'm so grateful for your time, for your insight into this. We always like to ask our guests to share a book that they love at the end of the podcast. So what have you prepared for us today? Kingston Myles: Yeah, so I'm waxed lyrical about this book. It's called First Break All The Rules. It's a gallup study of what successful managers do differently. So First Break All the Rules is probably one of the most powerful leadership books I've read for a couple of reasons. One, it's backed by this phenomenal global study of businesses, their leaders, their people, their results. So there are some great books out there but they're theoretical, they're someone's opinion. This book is etched in statistical facts. So I quite like that. That pleases the inner nerd in me. And secondly, it really does force you to think differently about especially if you're leaders or a leader of a team. Really forces you to think slightly differently about how you can get the best out of your best people, how you can recruit for the best people. Kingston Myles: And at first read, it can read quite controversially because what's called First Break All the Rules so you would expect it but it can read quite controversially. It will force you to really think about Do Leaders Play Favorites. Is a really great chapter in that book and the difference between skills, knowledge and talent and coming to terms with the fact that you can teach people skills and knowledge but their talent, their behaviours. You can do your best to bring out what somebody has but you can never add to that in the book. So I would definitely recommend especially leaders of teams and leaders of leaders to read that book or listen to them. Kelly Molson: Great book choice. So that has not come up on the podcast in, what, 60 odd episodes. So that is a really good one to go on the list. And as ever, listeners, if you head over to our Twitter account and you retweet this episode announcement with the words I want Kingston's book, you'll be in with the chance of winning a copy as well. Amazing. Thank you so much again for coming on. It's been a really interesting chat. I am sure that at some point we'll get to meet each other at Audley End maybe as well. One of the next events that you're running there.Kingston Myles:  100%. We should do like an ad hoc episode live from  Audley End. Kelly Molson: Okay. Let's talk about how we can make that happen. Excellent. Thanks again. Kingston Myles: You're welcome.Kelly Molson: Thanks for listening to Skip the Queue. If you've enjoyed this podcast, please leave us a five star review. It really helps others find us. And remember to follow us on Twitter for your chance to win the books that have been mentioned. Skip The Queue is brought to you by Rubber Cheese, a digital agency that builds remarkable systems and websites for attractions that helps them increase their visitor numbers. You can find show notes and transcriptions from this episode and more over on our website, rubbercheese.com/podcast.

Audrey Klein has 25 years of global real estate experience – she has run her own business, held positions at Blackstone, Cromwell Property Group, Kennedy Wilson where she has raised £bn's of equity. Passionate about ESG and impact investing she is a UK founding member of WIRE - an organization dedicated to providing a networking venue for women in the private equity real estate business. Audrey currently serves on the board at SFO Capital Partners and Planet Smart City and the Corporate Board for Great Ormond Street hospital where she has served for the last 11 years. We sat down for a time-pressured, but very enjoyable conversation where we discussed the following: How she got into real estate What it takes to be a capital raiser What makes a great LP / GP relationship How to raise capital in uncertain times Female representation at the top table Catch the full episode live now on Spotify and Apple People Property Place Podcast is powered by Rockbourne #peoplepropertyplacepodcast #realestate #podcast

Where magic meets medicine, Great Ormond Street has links to two renowned authors, but for very different reasons. We trace the history of the first dedicated children's hospital in the English speaking world, and find out how one little boy will have an impact on the hospital forever. Yet another 4 month old boy had a very different impact on the hospital and one particular treatment - we find out more on this week's episode. Plus, we meet Alex's dad, and find out more about his role as Gentleman Usher to the monarch and his role in the royal funeral recently. Visit https://www.ladieswholondon.com  Get in touch! Instagram; @ladieswholondonpodcast Email; ladieswholondon@gmail.com Websites; www.ladieswholondon.com www.guideemily.com and www.alexlacey.com/podcast where you can also book for our virtual and real life walking tours. Thanks to Susie Riddell for our voiceover jingles www.susieriddell.com and our jinglemeister Ben Morales Frost, can be found on www.benfrostmusic.com See you next week Learn more about your ad choices. Visit megaphone.fm/adchoices

Join special guests Paul and Becca Feesey in conversation with Andrew Evans about their recent experiences as a family and their faith in Jesus. Includes discussion about the difference Jesus makes (referring to John's gospel).

Hear from peadiatric neurologist and scientist Amy McTague who helps babies and families when it comes to the diagnosis, treatment, and care for the babies who have a genetic epilepsy. ---More about Amy: torierobinson.com/epilepsy-sparks-insights/amy-mctague---Glossary terms: epilepsysparks.com/glossary---Follow Torie on:- Twitter: torierobinson10- LinkedIn: torierobinson- Instagram: torierobinson10- Facebook: TorieRobinsonSpeaker- Check out the website: torierobinson.com

Johnny Reay started to show a growing interest in golf and the family business when he was but a boy. He began helping out at Stoneleigh Deer Park GC aged 14 and now 15 years later he is general manager, involved in decision-making throughout the business with a specialism on the food and beverage side of Hogan's bar. Looking out of the club window at the golf course, Johnny says he is passionate that his club should be a welcoming place for visitors. Golf should be a game where every person, regardless of disabilities, should feel included and respected. Johnny says, “I was born with a... not disease... but a disability called Apert Syndrome. First of all, I went to Birmingham Children's Hospital. They couldn't really do anything until I was a teenager. Then, they were saying go to America, but that was too expensive. So, they got in contact with Great Ormond Street. I had numerous operations there, where they split my fingers, and they carried out two operations on my jaw and skull.” Please enjoy the story of Johnny Reay

O glasbi in medicini smo tokrat razmišljali na primeru bolnišničnega radia Lollipop, ki otrokom glasbo ponuja za razvedrilo in sprostitev v času hospitalizacije. Gosta nevropediatra primarija Igorja Mihaela Ravnika sta bila gospod Jamie Wilcox, vodja prostovoljskih dejavnosti v londonski otroški bolnišnici Great Ormond Street ter gospod Chaminda Stanislaus, vodja londonskega bolnišničnega otroškega radia Lollipop. Koristno srečanje v tem času, ko se tudi pri nas dogajajo prvi koraki v to smer. "Pomirjen otrok gotovo bolje okreva … za vse nas, osebje, otroke in starše je to nekaj fantastičnega.”Madeline Ismach, vodja psihosocialne službe, otroška bolnišnica Great Ormond Street Hospital.O glasbi in medicini smo tokrat razmišljali na primeru bolnišničnega radia Lollipop, ki otrokom glasbo ponuja za razvedrilo in sprostitev v času hospitalizacije. Gosta nevropediatra primarija Igorja Mihaela Ravnika sta bila gospod Jamie Wilcox, vodja prostovoljskih dejavnosti v londonski otroški bolnišnici Great Ormond Street ter gospod Chaminda Stanislaus, vodja londonskega bolnišničnega otroškega radia Lollipop. Koristno srečanje v tem času, ko se tudi pri nas dogajajo prvi koraki v to smer. Vabljeni k poslušanju.  

WELCOME BACK to #ThePaedipodsCast! It was so great to meet so many listeners IRL/F2F at the BOA Meeting in Aberdeen in September, and to get your feedback and suggestions for future guests. This Months guest is a complete 'all-rounder-big-hitter' in paediatric orthopaedics. Mr Martin Gargan heralds from York, trained at Oxford and was inspired into a career in paediatric orthopaedics early on his career. Having spent some time at Great Ormond Street and on a trauma fellowship in DEtroit, MI, he was appointed as a paediatric orthopaedic consultant in Bristol in 1994. He developed an incredible broad practice with a focus on hip preservation, introducing the PAO procedure to the region under the tutelage of David Reynolds. He has accomplished a huge amount including as TPD for the SW Deanery where his trainees had a 100% pass rate on the FRCS, and even got to select their own rotations to maximise their training opportunities. Serving as the chief examiner of the FRCS has given him an insight into how to best train the next generation of surgeons, and serving on the BOA Medicolegal committee as a member/Chairman has given the experience to better understand how we can deliver safe care through teams and continual review and improvement. Most notably, he was appointed as the Harold & Bernice Graves Chair of Orthopaedic Surgery at the Hospital for Sick Children in Toronto from 2014-18 where he developed incredible leadership and management experience which has led to him being appointed as the Divisional Chair of Women's & Childrens at University Hospital of Bristol group. Its an incredible episode covering a breadth of topics! enjoy! @paedipods @Pranai_B

Today we talk to Aswin Chari, an academic neurosurgical trainee; Ph.D. student at Great Ormond Street Hospital and UCL. When Aswin grows up, he wants to be an academic neurosurgeon (!); where he balances looking after patients and doing research into improving outcomes for children with epilepsy. Aswin is also the Clinical Fellow on the National Institute for Health and Care Excellence (NICE) guideline on the diagnosis and management of epilepsy, an Associate Editor for the British Journal of Neurosurgery, and the research lead for the neurosurgical charity Brainbook. **CONNECT WITH ASWIN**• Twitter: https://twitter.com/aswinchari **READ ABOUT ASWIN'S WORK**UCL: https://iris.ucl.ac.uk/iris/browse/profile?upi=ACHAB77ResearchGate: https://www.researchgate.net/profile/Aswin-ChariBrainbook: https://brainbookcharity.org/meet-the-team **CHECK OUT THE PODCAST WITH ASWIN**Available on Spotify, Apple, Google, Stitcher, Amazon Music, and Deezer - Type in “Epilepsy Sparks Insights”**CONNECT WITH TORIE**• Website: https://www.torierobinson.com• Twitter: https://twitter.com/torierobinson10• LinkedIn: https://www.linkedin.com/torierobinson• Facebook:https://www.facebook.com/TorieRobinsonSpeaker **CHECK OUT TORIE'S YOUTUBE & BLOG**• YouTube: https://www.youtube.com/c/TorieRobinson• Blog: https://www.torierobinson.com/blog**HIRE TORIE AS A SPEAKER ON EPILEPSY, MENTAL HEALTH, DISABILITY, & DIVERSITY**https://www.torierobinson.com/contact

This week we discuss the headline that an ex-porter from Great Ormond Street Children's Hospital has been accused of 84 sex offences between 1985 and 2018, including rape, attempted rape, and sexual assault of a child under 13. A link to the article can be found here. This is not the first-time concerns have been raised regarding safeguarding in public areas of hospitals, volunteers or in regard to moving patients around the hospital. Following the shocking disclosure of abuse by Jimmy Savile at Leeds Teaching Hospital amongst many other hospitals, an investigation report published by the Trust in 2015 made 31 recommendations to prevent similar incidents happening again. The full report can be found here. Sadly, the new allegations of abuse are not the first for Great Ormond Street, who also hit the headlines previously for child sexual abuse involving Jimmy Savile who was accused of abusing a dying child in the 70's at the hospital. In 2012, Great Ormond Street also commissioned an investigation in regard to this. Therefore, despite their investigation and further recommendations in the report by Leeds Teaching Hospital, the Great Ormond Street porter continued to abuse children until 2018. To many, Great Ormond Street Hospital is well known for the fabulous work and care for very sick children. This further headline will shock  due to the period an employee went undetected and begs the question how could children be put at risk in this way? This recent headline sadly follows further concerns regarding Great Ormond Street after government minister Steven Barclay called on the health secretary to commission an independent investigation into an alleged cover-up of a child's death in 2011. Great Ormond Street has admitted that crucial medical evidence about the child's condition when she arrived at the hospital's intensive care unit was not provided to a coroner's inquest Minister demands investigation into Great Ormond Street Children's Hospital ‘cover up' | The Independent. In any medical situation whether it be that of a child or an adult, we expect those who are looking after us when we are our most vulnerable to be appropriately vetted and trained. We put our lives in the hands of medical staff. Safeguarding is paramount as there is a clear position of trust we rely upon. Heath care professionals include but are not limited to, doctors, nurses, healthcare assistance, carers, support staff and therapists. Physical and emotional abuse may be easier to identify, whereby sexual abuse can at times be more difficult.  The guidance states “A breach of sexual boundaries occurs when a healthcare professional displays sexualised behaviour towards you. Sexualised behaviour is defined as acts, words or behaviour designed or intended to arouse or gratify sexual impulses or desires.” Breaches of sexual boundaries do not just include criminal acts such as rape or sexual assault, but cover a range of behaviours including the use of sexual humour or innuendo, and making inappropriate comments about your body. It can include comments made in your presence, even if not about you. clear-sexual-boundaries-information-for-patients-and-carers.pdf (professionalstandards.org.uk) A google media search for the last year alone brings up numerous concerning entries for abuse in the health sector and these are only the reported cases we know of. In February 2020, GP Manish Shah was convicted of committing 90 assaults against 24 female patients whom he persuaded to undergo unnecessary intimate examinations for his own gratification. He did not always wear gloves to carry out examinations and in one case he left a woman entirely naked on an examination table. His victims were aged between 15 to 39. Shah, is to serve a minimum of 15 years prison sentence. This followed a previous hearing in 2018 for similar offences. GP who sexually assaulted 24 patients jailed for life | Crime | The Guardian. Cambridge paramedic Andrew Wheeler was found guilty of rape of two women and sexual assault of a minor. 18 offences were committed between 2002 and 2018. He is to be sentenced in February 2021 NHS Gynaecologist Dr Jomo Mathurine was struck off after secretly filming himself having sex with unsuspecting women The Independent Inquiry into Child Sexual Abuse has now published a report having spoken with 109 victims focusing on the period between 1960-2000. The report found healthcare practitioners who committed child sexual abuse commonly did so under the guise of medical treatment, which went unchallenged by other staff even when unnecessary or inappropriate because of their position of trust. The full report can be found here. Inappropriate Relationships Abuse in the health sector has also come up repeatedly in regard to inappropriate relationships. This can be between doctors and patients, nursing staff and treating psychiatrists or mental health practitioners to name just a few scenarios. Personal relationships with former patients may also be inappropriate depending on the individual circumstances such as whether the patient sought medical attention for mental health concerns. Other factors include; the length of time since the professional relationship ended, the nature of the previous professional relationship and whether the patient was particularly vulnerable at the time of the professional relationship, and whether they are still vulnerable The General Medical Council, the organisation that regulates doctors in the UK, makes it clear that doctors “must not pursue a sexual or improper emotional relationship with a current patient”. Any doctor caught ignoring this rule is likely to face professional sanction, including being struck off. Doctors must not end a professional relationship with a patient solely to pursue a personal relationship with them. Guidance can be found here. As outlined above, of particular concern, is a patient who has engaged treatment for mental health. Therapists can be provided with very intimate and vulnerable details from a client. The client may form a strong bod with their therapist. This could lead to an abuse of power and makes a sexual relationship which such patient highly unethical.  It is the doctor or therapist's responsibility and duty to ensure that his or her relationship with the patient remain as professional as possible. Anyone who has concerns regarding a health care professional can report this to the manager on site, the General Medical Council and police. All NHS organisations will have a formal complaints procedure which should be readily available to all patients on request. If an NHS employee has committed abuse, it is possible to make a civil claim against the NHS Trust for who the employee works, under the term ‘vicarious liability' if it can be established that the abuse occurred during the course of employment or in a relationship akin to employment. In the private sector, civil claims can be made against the individual practitioner's indemnity insurance. We encourage anyone who has concerns about sexual abuse to get in touch. You can contact Alan Collins at Alan.collins@hughjames.com or Danielle Vincent at  Danielle.vincent@hughjames.com. 

Welcome back to our latest Thursday Specials episode! Today's episode is discusses Parenthood over 40 with Professor Alastair Sutcliffe (http://alastairsutcliffe.co.uk/). Professor Alastair Sutcliffe is an internationally known expert on IVF children and has led studies in this field since 1993. He is also a general, developmental and adolescent paediatrician at University College London Hospital and an honorary consultant at the Great Ormond Street and Whittington Hospitals (UK). Enjoy! Subscribe, follow, comment and get in touch! Submit your questions or send your voice note questions (up to 30 seconds) - https://www.mondaysciencepodcast.com/get-in-touch e. info@mondaysciencepodcast.com --- Send in a voice message: https://anchor.fm/mondayscience/message

I spoke to Janet Lindsay, CEO of Wellbeing of Women today all about the most common women's health issues from endometriosis to irregular bleeding and much more. Please listen, share with friends and start talking about these important issues that are affecting around half the nation. About Janet Lindsay Janet Lindsay is Chief Executive of Wellbeing of Women, the women's health charity saving and changing lives. Before this, she worked in a number of communications and fundraising roles for Starlight Children's Foundation and Great Ormond Street.    Janet previously ran her own consumer PR consultancy as well as working as a director for several large PR Agencies looking after leading consumer brands including Dulux, Smallbone, Bisto and Johnnie Walker Whisky. Email us at info@mybaba.com Follow us on Instagram @mybabainsta and @mybabagram Show notes Wellbeingofwomen.org.uk   Our YouTube site with our health and wellbeing webinars   British Menopause Society   Women's Health Concern   NHS   RCOG   The menopause charity What is My Baba? My Baba provides the daily scoop on family, food and lifestyle - we're not just experts at all things parenting. Visit mybaba.com  The Content on this podcast is provided by My Baba and represents our sole opinions and views. For more information on our terms and conditions please refer to the website: https://www.mybaba.com/terms-conditions/

Following our previous episode with Harry's Hat, Amy and Jen review the guidance on measuring head circumference. We discuss when (and how frequently) as well as how to measure. Many of us may be doing it incorrectly - using lasso/plastic tapes (which can stretch and lead to inaccurate measurements), instead of paper. We also discuss the potential consequences of not detecting problems with head circumference with reference to a recent court case and consider what lessons we can learn from this case. Further Reading and Resources: Court Case https://www.bailii.org/ew/cases/EWHC/QB/2020/3102.html NICE Guidance on abnormal head shape or size: https://www.nice.org.uk/guidance/ng127/chapter/Recommendations-for-children-aged-under-16#head-shape-or-size-abnormalities https://www.nice.org.uk/guidance/qs198/chapter/Quality-statement-2-Head-size-and-shape-in-children NHS Choices page on Plagiocephaly and Brachycephaly: https://www.nhs.uk/conditions/plagiocephaly-brachycephaly/ Great Ormond Street pages on positional plagiocephaly: https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/positional-plagiocephaly/ Craniostenosis CDC pages: https://www.cdc.gov/ncbddd/birthdefects/craniosynostosis.html#:~:text=Lambdoid%20synostosis%20%E2%80%93%20The%20lambdoid%20suture,the%20rarest%20types%20of%20craniosynostosis Image of Cranial Suture Lines: https://www.stanfordchildrens.org/en/topic/default?id=anatomy-of-the-newborn-skull-90-P01840 BMJ article evidencing that plastic lasso Measuring tapes stretch: https://adc.bmj.com/content/90/8/820

In this episode, Dr Bahijja Raimi-Abraham discusses health effects of assisted reproductive technologies such as In vitro fertilisation (IVF) with the amazing (double doctorate!) Professor Alastair Sutcliffe (http://alastairsutcliffe.co.uk/). Professor Alastair Sutcliffe is an internationally known expert on IVF children and has led studies in this field since 1993. He is also a general, developmental and adolescent paediatrician at University College London Hospital and an honorary consultant at the Great Ormond Street and Whittington Hospitals (UK). Episode image credit: www.unsplash.com Subscribe, follow, comment and get in touch! Submit your questions or send your voice note questions (up to 30 seconds) here. e. info@mondaysciencepodcast.com --- Send in a voice message: https://anchor.fm/mondayscience/message

“Why wouldn't we, as a society, seriously start debating the earliest appropriate age where we should start using genomics, not only for treatment and diagnosis, but also for prevention and facilitating earlier detection? Maybe for some it's 18, maybe for others it's childhood - but these are the sorts of questions that we should be debating.”  In this week's episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Saskia Sanderson, Chief Behavioural Scientist at Our Future Health and chartered psychologist. Saskia has a particular interest in applying psychology to translate genomics into better ways to help others, is a freelancer at PHG Foundation and is former Senior Research Social Scientist at Great Ormond Street.  Today, Saskia talks about polygenic risk scores, how scientific research affects real people and sharing GP's patient data. She also talks about her early career and how we can facilitate public debate. 

In this episode, I chat to sports journalist and broadcaster Amanda Davies on her experiences in motorsport, her career in professional broadcasting and everything in between. From Sky Sports and the BBC to CNN, Amanda has been involved in creating coverage for every major sporting event for at least 15 years. She has done this passionately and diligently, bringing us interviews with almost every sporting great. Away from the camera, she is extremely passionate about children's charities, officially supporting Sparks Charity, Great Ormond Street and Bliss Charity, and on a personal note has been one of my lockdown heroes, encouraging me to work out most morning through an incredibly supporting online group that we formed back in March 2020 to keep ourselves - a handful of motorsport colleagues - motivated when we needed it the most. Check out Amanda online:Instagram: @AmandaDCNNTwitter: @AmandaDCNN You can contact me via @Pandea on Instagram.You can support the podcast via supporter.acast.com/racinglives. Support this show http://supporter.acast.com/racinglives. See acast.com/privacy for privacy and opt-out information.

Magali is one of the 3rd cohort of Public Practice associates and has been placed at Great Ormond Street Hospital, where she is Project Lead for Placemaking. She will be leading a transformational approach to public realm as an integral part of the planning process for Great Ormond Street's new Children's Cancer Centre. Her work at The Children's Trust, which provides rehabilitation, education and community services for children with brain injury, focuses on assisting them with looking at their masterplan. Magali is studying at the London School of Economics, carrying out an MSc in Cities, which complements her Public Practice placement, and is a step towards following her passion for cities, and spaces in between buildings, especially in relation to children and older people. Previously Magali worked for 14 years at Marks Barfield Architects where she was a director and specialised in education projects, leading a successful education team. This is a great conversation on data analysis, the lived experience, air pollution, and urban equity. You can follow and chat with Magali via https://twitter.com/magalitt. We can be reached at www.thecentriclab.com.

Alina talks to Fiona Boorman a Paediatric Bladder & Bowel Specialist Nurse with 40 years' experience and a passion for helping children with additional needs to toilet train. Fiona started working with disabled children at 12, when she was a volunteer in a children's home and later in a Scope Grammar School. This led her to a career in nursing children, initially at Great Ormond Street, London. 10 years as a Special School Nurse got her hooked on continence. She realised that too many children were not given the opportunity to achieve this fundamental skill but with the desire, joined-up working and some crazy ideas, she could make it work for most. Fiona went on to undertake both Adult and Paediatric Continence modules.

David Jemitus talks with Zara Mizan about her business Koala Kids Parties and how she entertains and teaches kids during lock down. Zara is also running a charity event online called Superhero Extravaganza on Saturday 20th March in aid of Great Ormond Street hospital.

In this episode we speak with leading clinician Tom Quantrell Tom is a Chartered Physiotherapist with a Master's degree in sports and exercise rehabilitation with over 15 years' experience of working with children and young people (CYP). For over 10 years, Tom has set up and run paediatric musculoskeletal services in both the NHS and private sector. Tom has taught on this subject to a wide variety of audiences nationally and internationally from the team at Great Ormond Street to the medical department of the army foundation college. Tom continues to contribute to the CPD program for the British Society for Children's Orthopaedic Surgery and the British Orthopaedic Association. He also lectures on the Paediatric physiotherapy Master's program at UCL. Tom has worked with numerous elite young athletes including two years with a premiership rugby club's junior academy, five years with the age group program at England hockey and over seven years with Sport England's TASS program.  Tom currently runs the physiotherapy and sports injury clinic at Cambridge University Sports including his role as lead physio for the boat club, as they prepare for their annual boat race against Oxford. In this episode we discuss: Tom's early inspirations and how he chose his career – (hint: lying on a beach in Fiji watching crabs run up the beach)How a significant personal family event, led to Tom re-evaluating life and what was important to him and his young familyHis sporting passion and how he went about getting his dream job (and England kit)Being persistent & resilient - if you want something bad enough it won't just happen! Why children are NOT little adultsWho helped mentor Tom and the lessons he learnt from them to inspire his career progressionNot being afraid to assess kids, they are pretty robust Facebook: @physioteq  Twitter : @hdpnglobal  Instagram: @hdpnglobal LinkedIn: https://www.linkedin.com/in/thomas-quantrell-a789b870 Education https://www.hd-pn.com

Vicki and Geraldine talk to Professor Helen Bedford of Great Ormond Street about online anti-vaccination campaigns and what they mean for the Covid vaccination rollout.Talking points:Has there always been resistance to vaccination?Why does social media make things so much worse?Has vaccination been co-opted into the culture wars?Is it enough to tell people the facts?Can scientists beat the anti-vaxxers on their own ground?

Learn about what it's like to be a highly specialised paediatric clinical physiologist (often known as a neurophysiologist) - that person who does EEGs for children  - and more! I interviewed the really cool Dr. Stuart Smith from Great Ormond Street Hospital for Children NHS Foundation Trust, London!Stuart talks about how he makes children more relaxed and how parents can help their children chill during an EEG, psychosocial implications, his studies into epilepsy (his Ph.D.) at the Pal Lab at King's College London, and more!**CONNECT WITH STUART**• LinkedIn: https://www.linkedin.com/in/stuarteeg• Twitter: https://twitter.com/Neurospindle**READ ABOUT STUART'S WORK**• WILEY: https://onlinelibrary.wiley.com/doi/10.1002/epi4.12468 • KCL: https://kclpure.kcl.ac.uk/portal/en/theses/a-longitudinal-study-of-brain-structure-and-function-in-rolandic-epilepsy-between-active-epilepsy-and-seizure-remission(ae6bffdb-31c6-4a17-904d-3eb377471e00).html **CONNECT WITH TORIE**• Website:https://www.torierobinson.com• Twitter:https://twitter.com/torierobinson10• LinkedIn:https://www.linkedin.com/torierobinson• Facebook: https://www.facebook.com/TorieRobinsonSpeaker **CHECK OUT TORIE'S YOUTUBE & BLOG**• YouTube: https://www.youtube.com/c/TorieRobinson• Blog: https://www.torierobinson.com/blog**HIRE TORIE AS A SPEAKER ON EPILEPSY, MENTAL HEALTH, DISABILITY, & DIVERSITY & INCLUSION**https://www.torierobinson.com/contact

In this final episode of series two I talk to Connie Yates, mother of Charlie Gard who in 2017 was at the centre of a crisis and debate that stretched from the High Court in London, to the Vatican, the White House and into homes across the world. That debate raised issues of medical ethics and the fundamental rights of parents. But for Connie and partner Chris it brought only pain. For the question being asked was the most heart rending imaginable – should their son be kept alive to receive treatment that might extend his life? This is ultimately the story of a mother and father’s unbelievable determination in the face of systemic resistance. From Charlie’s diagnosis to a final court case to decide where he would die, Connie charts the full shocking detail of their fight against Britain’s medical and legal establishment. This is, of course, ultimately a story that ends in heartbreak. But it’s also a story of hope and of a mother’s fight for control against a tide of unrelenting crisis. An episode full of lessons and perspective for anyone facing their own challenges.Links:Charlie Gard Foundation: https://thecharliegardfoundation.org/ Charlie’s Law: https://services.parliament.uk/bills/2019-21/childrenaccesstotreatment.htm Episode notes:This was our longest episode so far – and for good reason. Connie Yates and her husband Chris are remarkable people. They faced the unimaginable – a devastating diagnosis for their first born. But what singles them out is their determination to fight against the consensus view every step of the way – each step a crisis in its own right. To get their sick son to Great Ormond Street, to refuse to accept that his condition was untreatable, to raise over £1m to fund the treatment in the US and to fight in every court in the land to get him that treatment. And then, when time ran out, to fight in the courts a final time so that Charlie might die at home and in peace. Connie’s background as a carer for disabled children (her Mum remarkably did the same job) clearly gave her a certain perspective. But in the end, it was an inner determination – a stubbornness – that drove Connie to fight against the medical and legal systems. Her greatest frustration came when the courts intervened to stop Charlie from being transferred from one hospital that wanted to end his life to another that wanted to save it. “I had no idea the courts could do that,” she says.Most of us, thankfully, will not live the heart-breaking crisis that Connie and Chris Yates faced. But in their story there are lessons, I think, for anyone dealing with a crisis. First the power of hope – the fuel for any long running campaign. But also the power and importance of control. Quite often we talk in this podcast about the need to work out what you have control over and what you don’t. No-one would have criticised Connie if she surrendered to the system much earlier in her story. But she did not … instead taking each defeat as a challenge to find another way forward.As Connie says: “It’s not that I wanted the control, I just wanted the best for my baby.”Stream/Buy ‘Allies’ by Some Velvet Morning: https://ampl.ink/qp6bm Some Velvet Morning Website: www.somevelvetmorning.co.uk

I talked about a charity event that is being held for the Great Ormond Street hospital if you can help in any way whether it's a donation of your time your money or even to stop in and support the stream I would really appreciate it. here's a link to liannes just giving : https://www.justgiving.com/fundraising/lianne-lewis15 --- Support this podcast: https://anchor.fm/cigargoyle/support

Natasha de Grunwald is a pioneer of Thai Massage, a teacher, author and natural health practitioner for over 30 years. She is a member of the Association of Therapy lecturers (ATL) and teaches accredited professional training programmes in the UK, online and around the world.In 1990 she introduced Thai Massage to the UK and is now the founder of a world renowned professional training school (London Institute of Thai Yoga Massage). She offers students the opportunity to learn a traditional, therapeutic lineage of Thai bodywork, under the umbrella of Thai Medicine. She has a commitment to raising the standards and putting Thai bodywork on the map as a reputable physical therapy and teaches the UK's only 300 hour programme.She is the founder of the Sacred Health Method, a revolutionary training for advanced therapists.For the past three decades Natasha has travelled from New York to New Zealand, and from Serbia and Thailand, to learn from healers, teachers, shamans and anatomists. Her pursuit for knowledge has led her to the Burmese borders to research pregnancy and post partum care with village midwives and into a cadaver lab many times.Her first book entitled ‘Thai Massage Dissected (published by Handspring publishing) is due for release in December 2020)Having had a busy private practice since 1990, and having worked at Great Ormond Street hospital at the very beginning of her career, throwing herself in at the deep end, massaging women whose young children were dying from AIDS, Natasha has always been a practitioner with great insight and a passion to transform lives through touch.Learn more about NatashaConnect on InstagramFor more info on the show and to contact Raphan please visit www.raphan.co.uk

Subscribe to our YouTube Channel for full video!   Adam Hollioake ladies and gentlemen!! Adam has quite the story he shares with me today, he gives a very honest and open account of his life. Him and I have both lost a brother and we would like to take the opportunity to make our episode a tribute in their fine memory and to anyone else who has lost a sibling. Hamza would have been a young man in his 20s now, he was born with a life shortening illness called Sudo Obstruction, he was taken to Great Ormond Street in London and spent a lot of his life at Yorkhill Hospital. Sadly at the age of 5 his fight with the illness would end. All of my family would miss him dearly. Ben who sadly passed away from a car crash in Australia was only 24 years of age and was only just coming into the peak of his life. Playing cricket for England in all formats at the time. Following his passing Adam and his family have established the Ben Hollioake fund. Myself and Adam would never change the time we got with them both.   Please follow us on all social media platforms: Twitter Instagram Facebook iTunes Spotify

In the season finale of PerryPOD, we top it off in style. The end of this season is with the one and only Will Bayley. Will has overcome being born with arthrogryposis which affects all four of his limbs. Despite this he has gone on to become the best in the world at Paralympic table tennis. Listen in to hear how Will overcame cancer, conquered his disability and then conquered the world to become Paralympic champion. You can follow Will's incredible journey here: Instagram: @willbayleytt Twitter: @willbayleytt Be sure to check out Will's Great Ormond Street face mask campaign: https://www.dsi-london.com/will-bayley-signature-rainbow-face-mask.html Thank you, I hope you enjoy and please LIKE & SUBSCRIBE!

We're joined by the incredible Lucinda Miller, clinical lead and founder of NatureDoc Clinic. Lucinda joins the show this month to talk to about cows' milk protein intolerance (CMPA) and the role of probiotics, gut bacteria, nutrition, and how to climb the milk ladder. Lucinda explains the differences between non-IgE, IgE allergies and lactose intolerance, how to test for allergies as well as exploring possible links between CMPA and Caesarians versus natural births. This is a really helpful episode for new mothers in particular, as we discuss the tell-tale signs of a dairy intolerance, what to look out for and what you should do if you suspect your baby is suffering. Show notes Article: Cows' Milk Protein Allergy: The Low-Down On Substitute Milks & Nutrients - Lucinda Miller Dr Neil Shah -  Consultant Paediatric Gastroenterologist and Senior Lecturer at Great Ormond Street. Hospital, London.   Dr Shah can be contacted for appointments via Ms Rubi Begum at The Portland Hospital 215 Great Portland Street LONDON W1W 5PN on 0755 442 8969.   Email us at info@mybaba.com Follow us on Instagram @mybabainsta and @mybabagram What is My Baba? My Baba provides the daily scoop on family, food and lifestyle - we’re not just experts at all things parenting. Visit mybaba.com  The Content on this podcast is provided by My Baba and represents our sole opinions and views. For more information on our terms and conditions please refer to the website: https://www.mybaba.com/terms-conditions/

Why do some people have a severe response to COVID-19, and others seem to have no symptoms at all? Is the answer in our genes? This week we talk to Chris Wigley, the CEO of Genomics England and Interim SRO for Data-NHSX, and Dr Richard Scott, the clinical lead for rare disease at Genomics England and consultant clinical geneticist at Great Ormond Street. Genomics England has led the UK into a new world of medicine with genetic sequencing, and it's only just starting. Today, we're focusing on the recently announced large scale human genome sequencing project launched by Genomics England in regards to COVID-19. From understanding individual response and drug development, listen to what Genomics England are hoping to understand about COVID-19. If you would like to volunteer for Genomics England's study on COVID19, sign up here: https://www.genomicsengland.co.uk/covid-19/

Why do some people have a severe response to COVID-19, and others seem to have no symptoms at all? Is the answer in our genes? This week we talk to Chris Wigley, the CEO of Genomics England and Interim SRO for Data-NHSX, and Dr Richard Scott, the clinical lead for rare disease at Genomics England and consultant clinical geneticist at Great Ormond Street. Genomics England has led the UK into a new world of medicine with genetic sequencing, and it’s only just starting. Today, we’re focusing on the recently announced large scale human genome sequencing project launched by Genomics England in regards to COVID-19. From understanding individual response and drug development, listen to what Genomics England are hoping to understand about COVID-19. If you would like to volunteer for Genomics England's study on COVID19, sign up here: https://www.genomicsengland.co.uk/covid-19/

Matthew Layton presents Studio 1 – Vision Australia Radio's weekly look at life in Australia from a low vision and blind point of view. This week's show is about the way that people living with blindness and low vision find their way around. It's something you can actually study - a discipline - Orientation and Mobility. But like many acquired skills, if you don't keep using them or practising, they can go a little rusty. Both of our guests on the last two episodes of Studio 1 - Paula Nettley of Great Ormond Street in London and Emma Bennison, CEO of Blind Citizens Australia, both formidable professionals, super mums and all-round fine examples of the human species - have expressed a little apprehension about returning to the hurly burly of everyday life after extended periods in their domestic comfort zones. (You can listen to both shows as podcasts here - https://varstudio1.podbean.com/) So this week Matthew speaks to Vision Australia Orientation and Mobility Specialist Kirsty Jackson about what she and her colleagues do in general and, specifically, to see if they have any tips about how people can prepare to get back into the swing of things after lockdown. And we have our usual scheduled appointment with Studio 1's Mental Health and Safety Manager, registered counsellor Tammey Candeloro -- Please do get in touch, with the show CALL or TEXT: 04 500 78834 EMAIL: studio1@visionaustralia.org  TWITTER: http://twitter.com/varadionetwork and  http://twitter.com/whingeingpom -- GUESTS AND RESOURCES Kirsty Jackson, Orientation and Mobility Specialist, Vision Australia. More information on Orientation and Mobility in general and Vision Australia's Orientation and Mobility services can be found here - https://www.visionaustralia.org/community/news/2019-08-23/what-orientation-and-mobility Tammy Candeloro - Counselling 4 You WA https://www.counselling4youwa.com.au/ - 0423 93 15 74 [PHOTO CAPTION: Coming out of lockdown. A gentleman with a long cane navigates his way out of the front doors of a bus.] -- Vision Australia gratefully acknowledges the support of the Community Broadcasting Foundation for Studio 1.

Great Ormond Street Hospital in London has a global reputation for providing outstanding care to children with the most complex medical conditions who need expert help. The hospital, known as GOSH, boasts more specialist services for children under one roof than any other and employs some of the country's leading doctors to staff them. The vast majority of the 43,000 children who stay at GOSH every year receive care which befits its reputation. But when things go wrong, is the hospital being transparent about its failings and does it do everything it can to prevent mistakes being repeated? When serious mistakes happen hospitals are duty-bound to launch serious incident investigations to understand what exactly happened and report them to external bodies. But File on 4 investigates claims that in some cases the hospital has failed to declare serious incidents despite evidence of harm. Reporter Michael Buchanan began investigating how the hospital deals with errors after attending the inquest of 14-year-old Amy Allan, from North Ayrshire, who died following elective back surgery. Michael returns to Scotland six months later to investigate how the hospital responded to Amy's death and meets other families who say they cannot get the answers they're seeking. Producer: Ben Robinson Reporter: Michael Buchanan Editor: Carl Johnston

Automotive innovation is gathering pace rapidly – should we be putting the brakes on? How much autonomy is too much for a self-driving car? Jason Bradbury and Stuart Witts hear about the car of the future that can see around corners, and from the retrieval team at Great Ormond Street using connected ambulances to save children’s lives.  The view or opinions expressed by the guest speakers in this podcast are solely their own, they do not purport to reflect the opinions or views of Vodafone or its members. Neither Vodafone or its members purport to support or endorse the technologies or companies mentioned within the podcast.  The comments on this channel belong only to the person who posted them. Vodafone do, however, reserve the right to request to remove off-topic or inappropriate comments.

Dr Mark Thomas talks with Dr Sumit Das, Consultant Paediatric Anaesthetist Oxford about NAP6. Dr Thomas is a Consultant Paediatric anaesthetist at Great Ormond Street and has research interests in pre-operative fasting, anaphylaxis and ENT anaesthesia.

My guest on today's podcast and former guest on my show "", Dr. Steven Gundry proposes in his new book "", that the “diseases of aging” we most fear are not simply a function of age; but rather, they are a byproduct of the way we have lived over the decades. In The Longevity Paradox, he maps out a new approach to aging well—one that is based on supporting the health of the “oldest” parts of us: the microorganisms that live within our bodies. He believes that - from diseases like cancer and Alzheimer’s to common ailments like arthritis to our weight and the appearance of our skin, these bugs are in the driver’s seat, controlling our quality of life as we age. Dr. Gundry is a cum laude graduate of Yale University with special honors in Human Biological and Social Evolution. After graduating Alpha Omega Alpha from the Medical College of Georgia School of Medicine, Dr. Gundry completed residencies in General Surgery and Thoracic Surgery at the University of Michigan and served as a Clinical Associate at the National Institutes of Health. There, he invented devices that reverse the cell death seen in acute heart attacks; variations of these devices subsequently became the Gundry™ Retrograde Cardioplegia Cannula. It has become the world’s most widely used device of its kind to protect the heart from damage during open-heart surgery. After completing a fellowship in congenital heart surgery at The Hospital for Sick Children, Great Ormond Street, in London, Dr. Gundry was recruited as Professor and Chairman of Cardiothoracic Surgery at Loma Linda University Medical Center. There, he and his partner, Leonard Bailey, pioneered infant and pediatric heart transplantation. Together, they have performed more such transplants than any other surgeons in the world. During his tenure at Loma Linda, Dr. Gundry pioneered the field of xenotransplantation, the study of how the genes of one species react to the transplanted heart of a foreign species. He was one of the original twenty investigators of the first FDA-approved implantable left ventricular assist device (a kind of artificial heart). Dr. Gundry is also the inventor of the Gundry Ministernomy, the widely used minimally invasive approach to aortic- or mitral-valve repair, the Gundry Lateral Tunnel, a “living” tissue that can rebuild parts of the heart in children with severe congenital heart malformations; and the Skoosh™ venous cannula, the most widely used cannula in minimally invasive heart operations. One of the fathers of robotic surgery, as a consultant to Computer Motion (now ), Dr. Gundry received early FDA approval to use robotic-assisted minimally invasive surgery for coronary artery-bypass and mitral-valve operations. He holds patents on devices for connecting blood vessels and coronary artery bypasses without sutures, as well as for repairing the mitral valve without the need for sutures or a heart-lung machine. He has served on the Board of Directors of the American Society of Artificial Internal Organs (ASIAO), and was a founding board member and treasurer of the International Society of Minimally Invasive Cardiothoracic Surgery (ISMICS). He recently completed two successive elected terms as President of the Board of Directors of the American Heart Association, Desert Division. Dr. Gundry has been elected a Fellow of the American College of Surgeons, the American College of Cardiology, the American Surgical Association, the American Academy of Pediatrics, and the College of Chest Physicians. He is a member of numerous other surgical and medical societies. He is also the author of more than three hundred articles, chapters, and abstracts in peer-reviewed journals on surgical, immunology, genetic, nutrition, and lipid investigations. He has operated in more than thirty countries, including charitable missions to China, India, and Zimbabwe. Inspired by the stunning reversal of coronary artery disease in an “inoperable” patient, using a combination of dietary changes and nutriceutical supplements, in 2001, Dr. Gundry changed the path of his career. An obese, chronic “diet” failure himself, he adapted his undergraduate Yale University thesis to design a diet based on evolutionary genetic coding, which enabled him to reverse his own medical problems. In the process, he effortlessly lost 70 pounds. The equally astonishing results from following what he came to call Diet Evolution in several of his staff led Dr. Gundry to accept a position in Palm Springs where he could devote his efforts to disease reversal. No longer satisfied with repairing the damage of chronic diseases, since 2002, Dr. Gundry founded and has served as Medical Director of The International Heart and Lung Institute in Palm Springs, California, which serves patients referred from across the nation. He is also Founder and Director of The Center for Restorative Medicine, part of the Institute. Its mission is to prevent and reverse the chronic diseases of “ageing” with diet and nutriceutical interventions, using surgical intervention for heart and vascular disease as a last resort. During our discussion, you'll discover: -The myth of the Mediterranean Diet promoting longevity...11:20 "Blue Zones" is a term coined by a journalist named Dan Bruckner Dr. Gundry has spent most of his life living in a Blue Zone (Loma Linda, CA) Doesn't disagree with the premise you should follow the Mediterranean Diet, but there's more to it... "The only purpose of food is to get olive oil in your mouth" The key to the Mediterranean Diet is not whole grains and beans Book: Residents of Acciaroli, Italy do not eat pasta or bread, but love lentil beans Millet, sorgum, teft do not have a hull (where most of the defense mechanisms of the plant are located) Unprocessed barley: People live a long time in spite of it, not because of it Influence of the Greek Orthodox church on the Mediterranean Diet Fasting and abstaining from animal products are observed during Lent -The missing link in the Mediterranean Diet regarding longevity...20:45 , a compound that is deleterious to the surface of blood vessels Cleveland Clinic invented a test to detect TMAO Recognized low incidence of coronary artery disease in spite of animal product consumption Present in most olive oils, balsamic vinegars and red wines A structural analog of choline Not all TMAO is created equal The ideal Mediterranean Diet (Hint: Olive Garden got it wrong) Rich in polyphenols, olive oil and red wine More fish and eggs than meat Some type of fasting component You can mitigate a bad diet with a fast or fasting mimicking diet for 5 consecutive days Done on a quarterly basis The Carnivore Diet is a fad, fancy name for the Atkins Diet -The carbohydrate Okinawans consume that staves off inflammation and high blood sugar...27:40 ~85% of the traditional Okinawan diet is a blue or purple sweet potato 5-6% of the diet white rice (no brown rice) Remaining soy-based products and pig fat Taro and sweet potatoes are resistance starches "The more we eat for our gut microbiome, the more our gut microbiome will take care of us." Nigerians carry the highest percentage of APO E-4 gene of any people on earth Their starch is melon Very low rate of Alzheimers -Dr. Gundry's thoughts on roughage and fiber intake...35:14  went on a mission to Africa to operate on colon cancer Realized no one had colon cancer Studied their stools Eating huge amount of tubers (yams) and millet Didn't realize there was a difference between soluble and insoluble fiber Advocated for eating whole grains Ended up dying of colon cancer Lives in tunnels in sub-saharan Africa Lives 30x longer than other rats Gut microbiome is identical of healthy 105 year old humans Eats tubers, roots and fungi -The myth of the efficacy of animal protein for longevity...42:45 US Dept of Agriculture sells agricultural products (owns the food pyramid) Vegans live the longest The more animal protein consumed, the less the longevity You can mitigate meat intake with a vegan fast or fasting mimicking diet for 5 days consecutively Methionine/glycine ratio People who are primarily carnivorous do not historically have the highest longevity -The myth of growth hormones...49:20 Loranz people of Ecuador do not have cancer or diabetes When block IGF-1 receptor in mice, live 40% longer When give growth hormones, abolishes effect of calorie restriction Supplement with quercetin -The myth of iron intake for longevity...55:05 Iron is one of the deadliest substances Iron is dangerous for mitochondrial function Regular blood donors have longer life spans than non-donors Endurance training helps reduce iron levels Ferritin and GGT are musts for a blood test to track "internal rust" Ferritin is a great marker for inflammation Elevated level indicates potential auto-immune disease -The myth of metabolic rate...59:50 Age is akin to rate of energy consumption Carnivores run higher temperatures than herbivores; breakdown of protein generates a lot of heat Sweet spot between fitness and low metabolism: Hibernating animals can live 2-3x longer than non-hibernating animals due to reduced metabolic rate There are periods we should have less energy expenditure than others We live in constant summer, regardless of where we live in the world -The myth of saturated fat...1:05:15 Dr. Ancel Keys published the Said saturated fat was related to coronary heart disease He did not say plant fats were bad for you (although it was implied) Retired near Acciorili and ate large amounts of olive oil Did not make the connection between animal fat and animal protein 30% of people carry APO E 4 gene Saturated fats in coconut oil, cheese increase LDL's in these people Mucus absorbs lectins; is essential for gut health in older age -Why milk does not in fact do the body good... Most milk in the US is casein a1 milk, from holstein cows Cow milk is designed to make baby cows grow quickly (lots of IGF1) Humans are designed to grow slowly (low amounts of IGF1) Adolescents who grow quickly have higher chance of cancer in 10-20 years We're the only animal that drinks another animal's milk Ben's kids drink goat and camel milk -And much more... Resources from this episode: -Book: -Book: -Book: -Book: - - - on the growing epidemic of loneliness and relationships/longevity. - - - - - - Episode Sponsors:  -: My personal playground for new supplement formulations. Ben Greenfield Fitness listeners receive a 10% discount off your entire order when you use discount code: BGF10. -: A new take on an ancient secret: Pain-soothing herbs, incredible antioxidants, and phytonutrients all in one delicious, soothing “Golden Milk” nighttime tea! Receive a 20% discount on your entire order when you use discount code: BENG20. -: You can be sure that I researched all the saunas before I bought mine and Clearlight was the one that stood out from all the rest because of their EMF and ELF Shielding and their Lifetime Warranty. Use discount code: BENGREENFIELD to get $500 off your sauna and a free bonus gift! -: As your qualified candidates roll in, we make it easy to screen & rate them, allowing you to make the best hiring decisions for your business. Try it for free when you use ! Do you have questions, thoughts or feedback for Dr. Gundry or me? Leave your comments below and one of us will reply!

In today's podcast I chat with London 2012 silver medalist, Rio 2016 gold medalist, and all-round top bloke Will Bayley. Will was brutally honest in his journey to the top of Paralympic Table Tennis as we discussed his journey from Great Ormond Street hospital to Rio and beyond, why Paralympians are not given the credit they deserve for their athleticism and the psychology of being an elite athlete @todddavidsonp2pcoaching FB: Todd Davidson p2p Coaching

Dr Elin Haf Davies is both tenacious and personable. In this week’s podcast she shares her professional journey and her love of extreme physical adventures. Elin’s career began as a paediatric nurse at Great Ormond Street hospital. After 20 years of clinical, research experience and gaining her PhD she founded Aparito.  The company provides a solution to the ever changing challenges of bringing innovative drugs to market by offering a patient-centric design of wearable long term monitoring devices. Aparito’s data collection is key to monitoring patients, allowing to feed into care plans and treatment pathways. Whilst their wearable devices enable the delivery of an effective and personalised treatment.

NYT Bestselling author of The Plant Paradox: The Hidden Dangers in "Healthy" Foods That Cause Disease & The Longevity Paradox: How to Die Young At a Ripe Old Age. STEVEN R. GUNDRY, M.D., F.A.C.S., F.A.C.C., is a cum laude graduate of Yale University with special honors in Human Biological and Social Evolution. After graduating Alpha Omega Alpha from the Medical College of Georgia School of Medicine, Dr. Gundry completed residencies in General Surgery and Thoracic Surgery at the University of Michigan and served as a Clinical Associate at the National Institutes of Health. There, he invented devices that reverse the cell death seen in acute heart attacks; variations of these devices subsequently became the Gundry™ Retrograde Cardioplegia Cannula. It has become the world's most widely used device of its kind to protect the heart from damage during open-heart surgery. After completing a fellowship in congenital heart surgery at The Hospital for Sick Children, Great Ormond Street, in London, Dr. Gundry was recruited as Professor and Chairman of Cardiothoracic Surgery at Loma Linda University Medical Center. There, he and his partner, Leonard Bailey, pioneered infant and pediatric heart transplantation. Together, they have performed more such transplants than any other surgeons in the world. During his tenure at Loma Linda, Dr. Gundry pioneered the field of xenotransplantation, the study of how the genes of one species react to the transplanted heart of a foreign species. He was one of the original twenty investigators of the first FDA-approved implantable left ventricular assist device (a kind of artificial heart). Dr. Gundry is also the inventor of the Gundry Ministernomy, the widely used minimally invasive approach to aortic- or mitral-valve repair, the Gundry Lateral Tunnel, a "living" tissue that can rebuild parts of the heart in children with severe congenital heart malformations; and the Skoosh™ venous cannula, the most widely used cannula in minimally invasive heart operations. One of the fathers of robotic surgery, as a consultant to Computer Motion (now Intuitive Surgical), Dr. Gundry received early FDA approval to use robotic-assisted minimally invasive surgery for coronary artery-bypass and mitral-valve operations. He holds patents on devices for connecting blood vessels and coronary artery bypasses without sutures, as well as for repairing the mitral valve without the need for sutures or a heart-lung machine. He has served on the Board of Directors of the American Society of Artificial Internal Organs (ASIAO), and was a founding board member and treasurer of the International Society of Minimally Invasive Cardiothoracic Surgery (ISMICS). He recently completed two successive elected terms as President of the Board of Directors of the American Heart Association, Desert Division.Dr. Gundry has been elected a Fellow of the American College of Surgeons, the American College of Cardiology, the American Surgical Association, the American Academy of Pediatrics, and the College of Chest Physicians. He is a member of numerous other surgical and medical societies. He is also the author of more than three hundred articles, chapters, and abstracts in peer-reviewed journals on surgical, immunology, genetic, nutrition, and lipid investigations. He has operated in more than thirty countries, including charitable missions to China, India, and Zimbabwe.Inspired by the stunning reversal of coronary artery disease in an "inoperable" patient, using a combination of dietary changes and nutriceutical supplements, in 2001, Dr. Gundry changed the path of his career. An obese, chronic "diet" failure himself, he adapted his undergraduate Yale University thesis to design a diet based on evolutionary genetic coding, which enabled him to reverse his own medical problems. In the process, he effortlessly lost 70 pounds. The equally astonishing results from following what he came to call Diet Evolution in several of his staff led Dr. Gundry to accept a position in Palm Springs where he could devote his efforts to disease reversal. No longer satisfied with repairing the damage of chronic diseases, since 2002, Dr. Gundry founded and has served as Medical Director of The International Heart and Lung Institute in Palm Springs, California, which serves patients referred from across the nation. He is also Founder and Director of The Center for Restorative Medicine, part of the Institute. Its mission is to prevent and reverse the chronic diseases of "ageing" with diet and nutriceutical interventions, using surgical intervention for heart and vascular disease as a last resort. Dr. Gundry lives with his wife, Penny and their four dogs, George, Bella, Black Pearl, and Fanny Foo Foo in Palm Springs and Montecito, California. His two grown daughters live nearby.Please do NOT hesitate to reach out to me on LinkedIn, Instagram, or via email mark@vudream.comLinkedIn - https://www.linkedin.com/in/mark-metry/Instagram - https://www.instagram.com/markmetry/Twitter - https://twitter.com/markymetryMedium - https://medium.com/@markymetryFacebook - https://www.facebook.com/Humans.2.0.PodcastMark Metry - https://www.markmetry.com/Humans 2.0 Twitter - https://twitter.com/Humans2Podcast

NYT Bestselling author of The Plant Paradox: The Hidden Dangers in "Healthy" Foods That Cause Disease & The Longevity Paradox: How to Die Young At a Ripe Old Age. STEVEN R. GUNDRY, M.D., F.A.C.S., F.A.C.C., is a cum laude graduate of Yale University with special honors in Human Biological and Social Evolution. After graduating Alpha Omega Alpha from the Medical College of Georgia School of Medicine, Dr. Gundry completed residencies in General Surgery and Thoracic Surgery at the University of Michigan and served as a Clinical Associate at the National Institutes of Health. There, he invented devices that reverse the cell death seen in acute heart attacks; variations of these devices subsequently became the Gundry™ Retrograde Cardioplegia Cannula. It has become the world's most widely used device of its kind to protect the heart from damage during open-heart surgery. After completing a fellowship in congenital heart surgery at The Hospital for Sick Children, Great Ormond Street, in London, Dr. Gundry was recruited as Professor and Chairman of Cardiothoracic Surgery at Loma Linda University Medical Center. There, he and his partner, Leonard Bailey, pioneered infant and pediatric heart transplantation. Together, they have performed more such transplants than any other surgeons in the world. During his tenure at Loma Linda, Dr. Gundry pioneered the field of xenotransplantation, the study of how the genes of one species react to the transplanted heart of a foreign species. He was one of the original twenty investigators of the first FDA-approved implantable left ventricular assist device (a kind of artificial heart). Dr. Gundry is also the inventor of the Gundry Ministernomy, the widely used minimally invasive approach to aortic- or mitral-valve repair, the Gundry Lateral Tunnel, a "living" tissue that can rebuild parts of the heart in children with severe congenital heart malformations; and the Skoosh™ venous cannula, the most widely used cannula in minimally invasive heart operations. One of the fathers of robotic surgery, as a consultant to Computer Motion (now Intuitive Surgical), Dr. Gundry received early FDA approval to use robotic-assisted minimally invasive surgery for coronary artery-bypass and mitral-valve operations. He holds patents on devices for connecting blood vessels and coronary artery bypasses without sutures, as well as for repairing the mitral valve without the need for sutures or a heart-lung machine. He has served on the Board of Directors of the American Society of Artificial Internal Organs (ASIAO), and was a founding board member and treasurer of the International Society of Minimally Invasive Cardiothoracic Surgery (ISMICS). He recently completed two successive elected terms as President of the Board of Directors of the American Heart Association, Desert Division.Dr. Gundry has been elected a Fellow of the American College of Surgeons, the American College of Cardiology, the American Surgical Association, the American Academy of Pediatrics, and the College of Chest Physicians. He is a member of numerous other surgical and medical societies. He is also the author of more than three hundred articles, chapters, and abstracts in peer-reviewed journals on surgical, immunology, genetic, nutrition, and lipid investigations. He has operated in more than thirty countries, including charitable missions to China, India, and Zimbabwe.Inspired by the stunning reversal of coronary artery disease in an "inoperable" patient, using a combination of dietary changes and nutriceutical supplements, in 2001, Dr. Gundry changed the path of his career. An obese, chronic "diet" failure himself, he adapted his undergraduate Yale University thesis to design a diet based on evolutionary genetic coding, which enabled him to reverse his own medical problems. In the process, he effortlessly lost 70 pounds. The equally astonishing results from following what he came to call Diet Evolution in several of his staff led Dr. Gundry to accept a position in Palm Springs where he could devote his efforts to disease reversal. No longer satisfied with repairing the damage of chronic diseases, since 2002, Dr. Gundry founded and has served as Medical Director of The International Heart and Lung Institute in Palm Springs, California, which serves patients referred from across the nation. He is also Founder and Director of The Center for Restorative Medicine, part of the Institute. Its mission is to prevent and reverse the chronic diseases of "ageing" with diet and nutriceutical interventions, using surgical intervention for heart and vascular disease as a last resort. Dr. Gundry lives with his wife, Penny and their four dogs, George, Bella, Black Pearl, and Fanny Foo Foo in Palm Springs and Montecito, California. His two grown daughters live nearby.Please do NOT hesitate to reach out to me on LinkedIn, Instagram, or via email mark@vudream.comLinkedIn - https://www.linkedin.com/in/mark-metry/Instagram - https://www.instagram.com/markmetry/Twitter - https://twitter.com/markymetryMedium - https://medium.com/@markymetryFacebook - https://www.facebook.com/Humans.2.0.PodcastMark Metry - https://www.markmetry.com/Humans 2.0 Twitter - https://twitter.com/Humans2Podcast

Rosie Davies is working with a group at Great Ormond Street Hospital aiming towards a personalised medicine approach within the rare diseases space. In this episode we explore advancements in multi-omic technologies, potential issues around data security, and the involvement of big pharma in academic research. If you'd like to get in touch, our Gmail is "wonderlabspod". Enjoy!

In 2016 Tom Boother ran (yes ran) from Land's End to John O'Groats (for the non-Brits, that's bottom left to top right of Great Britain). What is remarkable about Tom is that he classes himself as a non-athlete, and in fairness to his running speeds he isn't going to threaten Mo Farah anytime soon. BUT for me that is the remarkable thing about Tom, that he has found a way, through his own tenacity, courage, resilience and search for understanding. Inspired to question, "There must be more to life than this", when taking his law exams (probably enough to push anyone to question their existence), he set about entering the Tour du Mont Blanc and caught the bug and eventually set his sights on running the length of the country. In this episode we hear about how he hatched the idea, the many trials and tribulation along the way, the serendipity of birthdays and blisters in Bristol, the joys of receiving random acts of kindness along the way and how he is making sense of what he has learned about life and business along the way. I hope you enjoy the listen it was fun to record full of insights. Show notes It was a very long run! Racing driver ambitions The lawyer and dyslexia combination Chamonix Ultra trail inspiration Don't disqualify someone with a sports law degree! Chamonix race, bad blisters and a police escort to hospital The 2012 Grand Union Canal race The beginning of a change, creating a change and pre-event planning The appeal of working towards a long term goal A nutter in need! Support from the Human Performance Unit, University of Essex Beginning the Land's End - John O'Groats journey Statistics – target was 14 days it actually took 15 days, 18 hours and 18 minutes Averaging 85 kilometers a day the total distance 1400 kilometers Blisters…again! Preparation, failing, nutrition problems and ramifications of small issues growing A stroke of luck – the Queen's birthday and a podiatrist! The kindness of strangers and running through the pain Headwind messing with Tom's head Worn through shoes at the Scottish borders  Sport psychologists, uncomfortable questions and making a commitment Support from strangers. The charities Great Ormond Street and EACH East Anglia Children's Hospices, creating a buzz for a wonderful cause Crossing the line at John O'Groats and a cold shower! Tom's seven core principles: Do it, become it, reward and routine, endure the pain (contract of resilience), team, time to quit and desire The Running Friend, if you can run 3 miles you can run a marathon Running across America now the naivety has gone?!  Supporting Champions on Twitter www.twitter.com/support_champs Steve Ingham on Twitter www.twitter.com/ingham_steve Supporting Champions on Linkedin, www.linkedin.com/company/supporting-champions Instagram https://www.instagram.com/supportingchampions/ A reminder if you're keen to pre-register for the next wave of Graduate Membership enrolments then you can do so at https://supportingchampions.co.uk/membership/ If you're looking for some coaching support or some virtual team development help to support you to get to the next level in work, life or sport then take a look at https://supportingchampions.co.uk/coaching-mentoring/ or drop us a note at enquiries@supportingchampions.co.uk then you can sign up for a free consultation to explore which package is right for you.

  https://bengreenfieldfitness.com/gundry Grains of all kinds, especially whole grain wheat. Corn. Tomatoes. Potatoes. Beans and legumes, particularly soy. Just about all nuts, especially cashews and peanuts. Zucchini, bell peppers, eggplant and pickles. And yes, even our dear friend the avocado. Each of these foods has one thing in common - a food component that today's podcast guest, , claims may responsible for some of the world's most pressing health issues, from obesity to heart disease. In Dr. Gundry's new book , he highlights exactly what that foood component is. Dr. Gundry is a renowned cardiologist, New York Times best-selling author and medical researcher. During his 40-year career in medicine, he has performed over 10,000 heart surgeries and developed multiple life-saving medical technologies, including patenting nine cardiac surgery devices. He is a cum laude graduate of Yale University with special honors in Human Biological and Social Evolution. After graduating Alpha Omega Alpha from the Medical College of Georgia School of Medicine, Dr. Gundry completed residencies in General Surgery and Thoracic Surgery at the University of Michigan and served as a Clinical Associate at the National Institutes of Health. There, he invented devices that reverse the cell death seen in acute heart attacks; variations of these devices subsequently became the Gundry™ Retrograde Cardioplegia Cannula. It has become the world’s most widely used device of its kind to protect the heart from damage during open-heart surgery. After completing a fellowship in congenital heart surgery at The Hospital for Sick Children, Great Ormond Street, in London, Dr. Gundry was recruited as Professor and Chairman of Cardiothoracic Surgery at Loma Linda University Medical Center. There, he and his partner, Leonard Bailey, pioneered infant and pediatric heart transplantation. Together, they have performed more such transplants than any other surgeons in the world. During his tenure at Loma Linda, Dr. Gundry pioneered the field of xenotransplantation, the study of how the genes of one species react to the transplanted heart of a foreign species. He was one of the original twenty investigators of the first FDA-approved implantable left ventricular assist device (a kind of artificial heart). Dr. Gundry is also the inventor of the Gundry Ministernomy, the widely used minimally invasive approach to aortic- or mitral-valve repair, the Gundry Lateral Tunnel, a “living” tissue that can rebuild parts of the heart in children with severe congenital heart malformations; and the Skoosh™ venous cannula, the most widely used cannula in minimally invasive heart operations. One of the fathers of robotic surgery, as a consultant to Computer Motion (now Intuitive Surgical), Dr. Gundry received early FDA approval to use robotic-assisted minimally invasive surgery for coronary artery-bypass and mitral-valve operations. He holds patents on devices for connecting blood vessels and coronary artery bypasses without sutures, as well as for repairing the mitral valve without the need for sutures or a heart-lung machine. He has served on the Board of Directors of the American Society of Artificial Internal Organs (ASIAO), and was a founding board member and treasurer of the International Society of Minimally Invasive Cardiothoracic Surgery (ISMICS). He recently completed two successive elected terms as President of the Board of Directors of the American Heart Association, Desert Division. Dr. Gundry has been elected a Fellow of the American College of Surgeons, the American College of Cardiology, the American Surgical Association, the American Academy of Pediatrics, and the College of Chest Physicians. He is a member of numerous other surgical and medical societies. He is also the author of more than three hundred articles, chapters, and abstracts in peer-reviewed journals on surgical, immunology, genetic, nutrition, and lipid investigations. He has operated in more than thirty countries, including charitable missions to China, India, and Zimbabwe. Inspired by the stunning reversal of coronary artery disease in an “inoperable” patient, using a combination of dietary changes and nutriceutical supplements, in 2001, Dr. Gundry changed the path of his career. An obese, chronic “diet” failure himself, he adapted his undergraduate Yale University thesis to design a diet based on evolutionary genetic coding, which enabled him to reverse his own medical problems. In the process, he effortlessly lost 70 pounds. The equally astonishing results from following what he came to call Diet Evolution in several of his staff led Dr. Gundry to accept a position in Palm Springs where he could devote his efforts to disease reversal. No longer satisfied with repairing the damage of chronic diseases, since 2002, Dr. Gundry founded and has served as Medical Director of The International Heart and Lung Institute in Palm Springs, California, which serves patients referred from across the nation. He is also Founder and Director of The Center for Restorative Medicine, part of the Institute. Its mission is to prevent and reverse the chronic diseases of “ageing” with diet and nutriceutical interventions, using surgical intervention for heart and vascular disease as a last resort. During today's discussion with Dr. Gundry, you'll discover: -What exactly a lectin is, and why plants have them...[6:56] -What happens to the gut upon consumption of lectins, and whether there's any research behind it...[9:25 ] -The common (and uncommon) sources of lectins that most people eat...[20:35] -How a lectin is different than gluten...[21:35 & 30:10] -Whether our ancestors ate plants and lectins...[31:10 & 44:50] -Why Steven is such a fan of eating fruit that’s in season, or fruit that is unripened...[36:45] -Why Steven thinks it is that so many of the Blue Zones in Dan Buettner's longevity book had a propensity for eating legumes, yet still lived long...[48:45] -Simple hacks you can use to reduce lectins in common foods like tomatoes, peppers, potatoes, apple, rice, etc...[39:55, 43:25 & 55:50] -And much more! Resources from this episode: Show Sponsors: -Atrantil -  Go to and use the code Ben for 15% off. -Rover - The nation's largest network of 5-star pet-sitters. Go to and use promo code "BEN" to get $25 off. -HealthIQ - To learn more about life insurance for physically active people and get a free quote, go to . -Qualia - Go to  to fine tune your brain for cognitive fitness. Do you have questions, thoughts or feedback for Dr. Gundry or me? Leave your comments at and one of us will reply!

Adam Rutherford goes the pathology archive of Great Ormond Street Hospital in London to hear how tumour samples from child patients about one hundred years ago may improve the diagnosis and treatment of very rare cancers in children today. He meets cancer geneticist Sam Behjati of the Wellcome Trust Sanger Institute and Great Ormond Street pathologist Neil Sebire in the hospital's basement archive. Africa now has its first radio telescope outside South Africa. It is located in Ghana near the capital Accra. The telescope is in fact a defunct telecoms satellite dish which was spotted on Google Earth images and then re-purposed for cutting edge astrophysics. It is hoped the dish will be the founding instrument of a pan African network of radio telescopes scrutinising exotic celestial objects in the skies above the continent. South African science journalist Sarah Wilds tells the story of how the Ghanaian dish was found and converted. Nano-engineers in California have created a device 100 times thinner than a human hair which they have used to measure the turbulence created by swimming microbes and record the sounds of heart cells contracting. Don Sirbuly is the professor of nano-engineering at the University of California San Diego who led the team. A spectacular new whale fossil unearthed Peru is the oldest known member of the evolutionary branch which gave rise to the giant filter-feeding baleen whales of today. The 36 million year old fossil provides evidence for how ancestral whales transitioned from capturing prey with their teeth to filter-feeding with baleen fibres. They may gone through a period of sucking prey from the sea bed.

Mr Martin Bailey, Paediatric Consultant Otorhinolaryngologist at Great Ormond Street: "General and Specialist Services for Children"

A day in the life of Great Ormond Street. Victoria Derbyshire visits some of the wards at the children's hospital.

We go behind closed doors in this special podcast from National Pathology Week 2010, visiting the pathology labs at the world famous Great Ormond Street Children's Hospital. We'll discover the role that pathologists play in diagnosis and treatment of childhood diseases, including how metabolic diseases are identified and the role of newborn screening. Plus, we explore the labs themselves to see pathologists in action. Like this podcast? Please help us by supporting the Naked Scientists

We go behind closed doors in this special podcast from National Pathology Week 2010, visiting the pathology labs at the world famous Great Ormond Street Children's Hospital. We'll discover the role that pathologists play in diagnosis and treatment of childhood diseases, including how metabolic diseases are identified and the role of newborn screening. Plus, we explore the labs themselves to see pathologists in action. Like this podcast? Please help us by supporting the Naked Scientists