Podcasts about clinical lead

In episode 387 of The Physical Performance Show, host Tim Studley picks up part two of his conversation with fellow Pogo Physio physiotherapist Lewis Craig, continuing last week's deep dive into surf life saving and Ironman racing. This episode shifts focus from injury patterns to managing niggles, optimising performance, and the habits that separate top-tier surf ironman athletes from the rest. Tim and Lewis discuss the collaborative decision-making involved in managing a recurring niggle, the key training and screening recommendations every surf life saving athlete should have in place, the lessons Lewis has learned working with elite athletes in the sport, and his top tips for improving performance — from sand-specific training to fuelling properly for a demanding training load. SHOW SPONSORS:

In episode 386 of The Physical Performance Show, host Tim Studley sits down with fellow Pogo Physio physiotherapist Lewis Craig to explore the world of surf life saving and Ironman racing — a sport many listeners may be unfamiliar with, but one that shares a huge amount in common with traditional triathlon and endurance sport. Tim and Lewis unpack what a typical training week looks like for a semi-professional surf ironman/ironwoman athlete, the most common injuries seen across swimming, ski paddling, board paddling and soft sand running, the disproportionate impact running-based injuries can have on an athlete's ability to race, and why energy availability, sleep and recovery are just as critical in this sport as they are in any other high-volume endurance discipline. SHOW SPONSORS:

In episode 385 of The Physical Performance Show, host Brad Beer sits down with fellow physiotherapist Lewis Craig for a lateral ankle sprain masterclass. Drawing on material the pair recently presented at a Gold Coast orthopedic evening, Brad and Lewis cover the burden and prevalence of lateral ankle sprains, the three-part clinical assessment process, key differential diagnoses, rehabilitation phases, and preventative strategies including bracing and taping. The episode explores why lateral ankle sprains — despite their reputation as a minor injury — carry a significant risk of chronic ankle instability, and why a thorough, structured assessment is essential to a smooth recovery. Brad and Lewis unpack the different ligament and tendon structures that can be involved, the red flags practitioners need to rule out, the impairment categories drawn from Jay Hertel's model of chronic ankle instability, and how rehabilitation should progress from protection through to return to sport and long-term prevention. Show Sponsor: Pogo Physio also offers online Telehealth Consultations for endurance athletes managing bone, tendon, or joint issues — book online at https://www.pogophysio.com.au. And... PILLAR Performance is leading a new frontier in the sports nutrition industry through micronutrition innovation. Their Performance Health range is designed to support the crucial hours outside of training and racing, helping athletes return to the start line in peak condition. One of their newest releases is Collagen Repair, developed in collaboration with Gelita Laboratories and featuring the clinically trialled collagen peptide TENDOFORT. For 15% off your first purchase, head to pillarperformance.shop or, for North American listeners, thefeed.com and use the code PHYSICALPERFORMANCE at checkout. Pillar Performance continues to lead the way in sports nutrition through micro-nutrition innovation, now expanding into the Performance Health range. One of their newest releases, Collagen Repair, was developed with Gelita Laboratories (Germany) using a clinically trialled collagen peptide (Tendofort) to support tendon and ligament health in conditions like hamstring tendinopathy, Achilles tendonitis, shin splints, and patellofemoral pain. Head to Pogo Physio also offers online Telehealth Consultations for endurance athletes managing bone, tendon, or joint issues — book online at https://www.pillarperformance.shop (or https://www.thefeed.com for North American listeners) and use code PHYSICALPERFORMANCE for 15% off your first purchase.   Partners / links mentioned: Ortho Tools (Cumberland Ankle Instability Tool / CAIT): mentioned in-episode as the online questionnaire resource Contact: Lewis Craig — l.craig@pogophysio.com.au In this episode, you'll hear: Episode context: Lewis Craig's return to the show after being last on around episode 109, and his progress toward finishing his Sports Masters through the University of Queensland The burden of lateral ankle sprains: why they're the most common musculoskeletal injury in sport across field and court sports, contact and non-contact alike Recurrence risk: why roughly 40% of people who sprain their ankle go on to develop chronic instability, and why the one-year mark is a key risk-reduction milestone Early predictors of chronic ankle instability: the Doherty 2016 study on single-leg landing and drop-jump testing at two weeks post-injury The three priorities of assessment: ruling out red flags and fractures, forming an accurate diagnosis, and identifying impairments Screening for fractures: mechanism of injury, the Ottawa ankle rules, weight-bearing ability, and key bony landmarks to palpate Differential diagnosis: ATFL and CFL sprains (70–80% of ankle sprains), peroneal tendon injuries, bifurcate ligament sprains, deltoid ligament tears, syndesmosis injuries, and talar dome injuries Why getting a clear mechanism of injury from the athlete is critical to an accurate diagnosis Identifying impairments: the ROAST consensus and Jay Hertel's updated model of chronic ankle instability — pathomechanical, sensory-perceptual and motor-behavioural impairments Clinical and objective testing: balance progressions, calf raise endurance and strength benchmarks, and power tests including triple hop, crossover hop and timed lateral hop The role of patient-reported outcome tools: the Cumberland Ankle Instability Tool (CAIT) and FAAM, and why they're useful for tracking progress and motivation Rehabilitation framework: protection and appropriate early loading, followed by strength, stability and mobility phases Managing specific injury types: use of moon boots, orthotics, low-dye taping and ASO ankle braces depending on the structures involved Addressing dorsiflexion loss: why regaining ankle range of motion is often one of the hardest parts of rehab, and the Torillin infographic on identifying the source of restriction Late-stage rehab and return-to-sport: hopping, change of direction, and integrating exercises into an athlete's normal training week for ongoing prevention Bracing and taping as secondary/tertiary prevention strategies to reduce recurrence Long-term consequences of poorly managed ankle sprains, including links to post-traumatic osteoarthritis and eventual ankle surgery The biggest mistake athletes make: assuming rehab is "done" once they can run, despite still having deficits in power, change of direction and stability Lewis's top tip: get every ankle sprain properly assessed, no matter how minor Quotes / takeaways: "It's just a simple lateral ankle sprain... and then someone who goes missing for months at a time." "Four out of ten people who have an ankle sprain go on to develop a chronic instability." "The better quality of the assessment, the more likely there's an accurate diagnosis." "It's really hard to sprain your ankle when it's really well strapped or with an appropriate brace." "Once someone gets running... you can run in a straight line really well and have really considerable deficits still." "Get it assessed. Understand what you've done and understand what impairments you might have." Time Stamps: 00:17 – Episode introduction and breakthrough experience 00:23 – Episode 385 introduction: lateral ankle sprain masterclass with Lewis Craig 00:50 – Sponsor: PILLAR Performance and Performance Health 01:15 – Collagen Repair: formulation, TENDOFORT and collagen health 01:44 – 15% PILLAR Performance discount with code PHYSICALPERFORMANCE 02:19 – Welcoming Lewis Craig back to the show 02:48 – Lewis's tenure at Pogo Physio and progress on his Sports Masters at UQ 03:45 – Introducing today's topic: lateral ankle sprains 04:37 – How common and burdensome are lateral ankle sprains? 05:36 – The "she'll be right" attitude and why it's changing 07:02 – Lewis's personal history with recurrent ankle sprains 08:02 – Impact on Lewis's own running and trail running 08:28 – The one-year mark and recurrence risk statistics 09:26 – Predictors of chronic ankle instability: single-leg landing and drop jump 09:53 – The Doherty 2016 study explained 10:51 – The three priorities of assessment 11:21 – Ruling out red flags and fractures 12:45 – Why assessment quality drives rehab outcomes 13:14 – Screening for fractures: mechanism, Ottawa ankle rules, bony landmarks 14:39 – Deciding on imaging: x-ray or MRI 15:06 – Differential diagnosis: the many subcategories of ankle sprain 15:35 – ATFL and CFL: the most common ligament sprains 16:35 – Peroneal tendon injuries 17:04 – Bifurcate ligament sprains 18:04 – Deltoid ligament tears with lateral ankle sprains 18:33 – Syndesmosis injuries and mechanism differences 19:31 – Clinical tests for syndesmosis 20:01 – Talar dome injuries and other easily missed diagnoses 20:30 – Why getting a clear mechanism from the athlete matters 21:29 – Identifying impairments: what it means and why it's important 22:51 – Jay Hertel's model of chronic ankle instability 23:48 – Balancing patient education without causing fear 24:17 – Motor outcomes: strength, power and kinetic chain 24:43 – Assessment time and thoroughness at Pogo Physio 25:08 – Objective testing: dynamometers, balance and calf tests 25:38 – Balance test progressions as return-to-sport criteria 26:37 – Strength testing: inversion, eversion and calf raise endurance 27:07 – Power testing: triple hop, crossover hop and lateral hop tests 27:33 – Using objective markers to guide return-to-sport decisions 28:01 – Patient questionnaires: Cumberland Ankle Instability Tool (CAIT) and FAAM 28:57 – Coping vs non-coping athletes and objective scoring 29:25 – Moving into rehabilitation: individualised management 29:54 – Protection and appropriate early loading 30:20 – Moon boots and protecting specific structures 31:16 – ASO ankle braces for lower-grade sprains 31:45 – The strength, stability, mobility rehab framework 32:14 – Early loading phase: range of motion, balance and strength 32:43 – Addressing dorsiflexion loss 33:13 – The Torillin infographic on restriction sources 33:40 – Progressing balance and strength exercises 34:10 – Preventative efforts and integrating rehab into training 34:40 – Late-stage rehab and return-to-play criteria 35:39 – Bracing and taping to prevent recurrence 36:08 – Long-term consequences: osteoarthritis and ankle surgery risk 37:34 – Lewis's own experience with taping and bracing 38:02 – The biggest mistake athletes make in managing ankle sprains 39:29 – Lewis's top tip: get every ankle sprain assessed 40:27 – Where to reach Lewis Craig for questions 40:52 – Episode close and sponsor reminder 41:20 – Pogo Physio Telehealth Consultations and closing details THE TEAM: Join the The Physical Performance Show LEARNINGS membership through weekly podcasts here: https://www.patreon.com/TPPShow Our goal is to get you back to your Physical Best. Find out more about Telehealth Consultations and book online. Your Hosts:

As the Norfolk and Norwich University Hospital celebrates 10 years of robotic surgery, find out how our robotic programme has developed over the last decade and our future goals. In this episode we hear from Alex Allen, Clinical Lead for Perioperative Theatre Equipment and Robotic Surgery and surgeon Cristina Viola, Consultant Thoracic Surgeon. They discuss how robotic technology is improving precision, enabling less-invasive procedures and reducing recovery times for patients. We also hear about plans for future development in robotics, including advances in paediatric robotic surgery and becoming a robotic training centre. We also discuss the incredible generosity of the Norfolk and Norwich Hospitals Charity, and their donors, who have funded two new state‑of‑the‑art surgical robots, and are fundraising for a fifth, giving even more patients access to cutting‑edge treatment and faster recovery. Hosted on Acast. See acast.com/privacy for more information.

Two years after researchers identified ReNU syndrome, where are we now?   In 2024, two independent research teams identified the genetic cause of ReNU syndrome, a rare neurodevelopmental condition affecting thousands of people worldwide. The discovery marked the beginning of a new chapter for families searching for answers and opened up exciting new avenues for research.  In this episode, host Sharon Jones revisits the story to explore what has happened since that breakthrough. She is joined by: Professor Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at Big Data Institute and Centre for Human Genetics, University of Oxford Christina Cox, Co-founder of ReNU Syndrome UK and parent of a child with ReNU syndrome Dr Ana Lisa Tavares, Clinical Lead for Rare Disease at Genomics England Together, they discuss how researchers around the world have built on the original discovery to deepen our understanding of ReNU syndrome, why studying the non-coding regions of our DNA is revealing previously unknown rare conditions, and how collaboration between researchers, clinicians and families is accelerating progress. They also explore how the growing ReNU community is supporting newly diagnosed families and what the future could hold for new treatments.  Links:  Previous episode detailing the discovery of ReNU Syndrome  ReNU Syndrome UK's website  Original research paper from Nicky's team in Oxford  Original research paper from the team based in New York   “It's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and the others. There's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France. So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible.”  You can download the transcript, or read it below. [00:00:00] Sharon: In 2024, two independent research teams identified a genetic cause of a rare neurodevelopmental condition affecting thousands of people around the world. Since then, that initial groundbreaking discovery has grown into something much bigger, bringing together families, researchers, and clinicians, and building a clearer picture of what we now know as ReNU syndrome.  [00:00:26] Sharon: Welcome to Behind the Genes, the podcast that covers everything from cutting-edge research to real-life stories in genomic healthcare. I'm Sharon Jones, and in today's episode, we're looking at what's happened since that discovery, what researchers are continuing to learn, and what the future could hold for people living with  ReNU Syndrome and their families.  [00:00:46] Sharon: To help us understand more, I'm joined by Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares. So, two papers were published around the same time for this condition. To start us off, Nicky, you worked on one of these papers. Could you explain how this journey first began?   [00:01:05] Nicky: Yeah, so this was two years ago now, back in early 2024, where two research teams, so us based in Oxford and a, a group based in New York, were both looking at the data within the National Genomics Research Library, and we both kind of somewhat simultaneously found that there was variance in this very, very small gene, it's called RNU4-2, were found in individuals with previously undiagnosed neurodevelopmental disorders.  [00:01:39] Nicky: And this was very, very striking because we initially actually identified the same single DNA change or mutation in 40 or so different individuals within the National Genomics Research Library, and we normally expect to see a whole host of different variants. We don't expect to see the same one.  [00:01:59] Nicky: So this was a really, really surprising finding. And it was through a collaboration, large scale collaboration across the world where we started contacting our other collaborators who have similar collections of patients who have been genome sequenced to ask if they had any individuals with DNA changes in this gene.  [00:02:17] Nicky: And we found some in the US, some in, in Australia, some in France and Germany. So very, very quickly built up this, this complete picture of variants in this gene, causing this rare neurodevelopmental disorder   [00:02:35] Sharon: of people finding it at the same time, what, what did that feel like?  [00:02:39] Sharon: Like, give us a ense of, like, that compelling, "We think we found something." What was that like?   [00:02:46] Nicky: I didn't believe it initially. You're always told when you're a scientist that if it looks too good to be true, it's, it's not true, and this basically lit up like a beacon. There's this particularly one DNA change that we found in, um, I think it was about 40 different individuals, and we don't really expect that to be the case.  [00:03:04] Nicky: We normally expect these genetic variants to be somewhat randomly distributed across the genome. So to find 40 individuals with exactly the same DNA change was very, very surprising. So initially, I didn't believe it. The whole team, including folks at Genomics England, spent a lot of time trying to check that these variants were real and tried to disprove the result, tried to find any other way in which any other reason why we would be seeing this.  [00:03:31] Nicky: And after a little while, we had to concede that we couldn't disprove it, so it must be true, and that, that was a very exciting moment.   [00:03:38] Sharon Jones: Was it the case that over in the States, the exact same thing was happening?   [00:03:42] Nicky: I think we found out when we were both speaking at the same conference, actually. So we didn't actually know that we, that we'd both come across the same result.  [00:03:49] Sharon: If you want to check out our previous episode on this initial discovery, you'll find a link to it in the episode description.  [00:04:00] Sharon: So Christina, tell us a bit about your situation, your family situation, and for our listeners, what ReNU is.   [00:04:05] Christina: So ReNU is, to us, is a family. We got a family when we got diagnosed with  ReNU. Beau - Arabella - already had other diagnosises, but people had always said to us, "Oh, there's something else. There's something else.  [00:04:20] Christina: We're not sure what it is, but there will be something." And then when we got  ReNU, it was like, "Oh, okay, amazing. What do we do? What is it?" Because there was only four lines on Wikipedia when we first got told about it, and there wasn't anything that, ourselves could find. So we kind of went onto Facebook and looked for groups and different people, and there wasn't really anything except for Jess in America.  [00:04:46] Christina: And then it grew, and then it kind of, we ended up finding more people in the UK and, like, all over. But for us, it didn't really change how we perceived Beau. It just made life easier. Like, knowing there was other families out there that we could find advice from and support from, and that we kind of knew what we had and going forward then, like, finding researchers and connecting with everybody.  [00:05:15] Sharon: Yeah. And for those who don't know, can you talk about what  ReNU is? Like, how does it affect Beau?   [00:05:20] Christina: So with Beau and  ReNU , it affects her with developmental delay. She's non-verbal. She's incontinent. She suffers for walking, so she can do a little bit of walking, but she needs a wheelchair It affects her mood swings.  [00:05:38] Christina: It just affects everything. Although she has it, she's still a happy, outgoing, very stubborn, just kind of "keep-going" child. But it affects her in everything, like eating, sleeping.   [00:05:51] Sharon: It sounds like life is, you know, very challenging on a day-to-day basis, lots of considerations. How did you feel when you finally got this diagnosis after years of wondering and waiting, not knowing?  [00:06:02] Christina: Finding out was, like, really emotional because it was like, "Oh, wow, so we have this diagnosis. Now what? What are we looking for? What's going to happen?" And then we were kind of like, "Oh, but there's not many people that had it." Because we found out in the August, so then it was trying to find people. But it has been life-changing to know that we're not on our own and that there is other people around.  [00:06:28] Sharon: Yeah, tell us a bit more about that. How did it feel to get that diagnosis?   [00:06:32] Christina: It was quite strange because our pediatrician rang us and said, "Oh, we've got a diagnosis. She's got RNU4-2." And we were like, "Okay, so what's that?" And she's like, "I don't really know. There's four lines on Wikipedia at the moment."  [00:06:46] Christina: She goes, "I don't like Wikipedia," but we still kind of... That was it. So then we went on a mission to find and look for where we could find support and find other families.   [00:06:58] Christina: At that point, I didn't know of anybody in the UK, and my husband found Jessica in America. What then, kind of, we had somebody to talk to, and then families in the UK kind of started appearing.  [00:07:09] Christina: So we ended up getting a whole network of people to bounce ideas off and talk about how it affects their children and what's for the future and things like that. It was really nice.   [00:07:22] Sharon: Yeah, yeah, I can imagine. So Ana Lisa, how do these findings contribute to a growing understanding of the condition?  [00:07:29] Ana Lisa: So this was an amazing discovery. Although we're finding new rare conditions quite often, not on this sort of scale. It was also an amazing finding because a lot of the genes that we know are associated with rare conditions are genes that encode proteins, and in the 100,000 Genomes Project, we were doing whole genome sequencing, and Nicky and her team were looking in the parts of the genome that don't encode for proteins.  [00:08:03] Ana Lisa: And so this was, uh, exciting from that point of view as well. So the vast majority of our genome, more than 98%, does not encode for proteins, but it's relatively unexplored. And if we think about our genome and the letter code that makes it up, which is the manual for how our bodies are built, and grow and function day-to-day.  [00:08:30] Ana Lisa: Those 3 billion letters, if you, if you printed them out in a 12 font regular print, it would stretch so far you could fly, I think, from London to Paris several times, maybe three times or something. And so, this actual gene is a very, very small gene, less than 150 of those letters. So again, it was incredible to find that by comparing across many, many different genomes in the National Genomic Research Library.  [00:09:00] Ana Lisa: Going back to your question about a growing understanding of a condition, it was a completely new condition, but it also opened up looking at other related genes and actually now more disorders that are being found, like RNU2-2 by colleagues in the US, and that might be one of the most common recessive genetic neurodevelopmental disorders.  [00:09:27] Ana Lisa: So it's really, really opened up this understanding about these types of disorders and also those non-coding parts of our genome and the power of collaboration and being able to look across many different whole genomes at the same time.   [00:09:44] Sharon: Yeah. And Nicky, you've been involved in much of this research journey.  [00:09:50] Sharon: What have been some of the biggest advances or learnings for you so far?   [00:09:55] Nicky: I think the biggest one is just how common, or how frequent, these disorders are. So what we discovered recently in terms of new genetic disorders were rarer and rarer conditions, and that's why we hadn't seen them before. But from going from looking at the protein coding genes to looking at these non-coding genes, we found something that was as frequent as disorders that were found in the early 2010s when we first had large-scale sequencing projects that looked at the protein coding genes.  [00:10:26] Nicky: So that was really, really surprising. And we now know there's this whole class of disorders. So RN4-2, this gene encodes this -- Well, it produces this small RNA that works in this huge molecular machine that is called the Splicer Zone, that mediates the processing of most of the other genes across the genome.  [00:10:50] Nicky: And there are lots of these little RNAs that work in this molecular machine that are called the small nuclear RNAs or the snRNAs And we now know that there are a whole multitude of different disorders associated with different ones of these spliceosomal small nuclear RNAs, and that's really incredible.  [00:11:09] Nicky: And for RNU4-2 itself, we also now know that there are, there's not just RENE syndrome, uh, which is a dominant disorder caused by chance de novo variants that are newly arisen in a child, but also a recessive disorder where a child inherits one, uh, gene mutation from each parent. And also another finding that there is a region of the gene where we find DNA changes that cause retinitis pigmentosa, so a retinal phenotype. So we now know a huge amount more about this single gene, but also all of this different class of genes or RNAs that work in the same molecular machine, uh, which is, is really fascinating biologically   [00:11:52] Ana Lisa: Vicky, while you were talking, I was thinking about the splicing and how a bit like this podcast recording, you're going to splice out the kind of extreme, the noise that wasn't supposed to be there.  [00:12:03] Ana Lisa: And actually, you could make slightly different versions of this podcast, couldn't you? And that's, that's what, what's happening in our bodies for a lot of our genes that, that the kind of output can be varied slightly.   [00:12:15] Sharon: So Christina, how has collaboration been involved across the community and with researchers?  [00:12:21] Sharon: You know, what sort of things have you been doing?   [00:12:23] Christina Cox: So it's amazing to have researchers that are so open and amazing to work with the families. So at the moment, we are just putting together like a panel to discuss questions from families, to then be able to answer families, to work very closely with the researchers for what things are happening and the progress within.  [00:12:47] Christina: It's just amazing to be able to work with researchers. They're just fantastic.   [00:12:52] Sharon: And from what I understand, like, you, you have a charity, don't you? Can you tell us a bit more about that and how that came about?   [00:12:58] Christina: So we have ReNU Syndrome UK, and it came about as there was a group of us parents that were like, we wanted to be able to support other families, knowing what it was like for us when we first started.  [00:13:12] Christina: It was very difficult. So we wanted to start a charity that can support families and signpost them, give them the opportunity to have family meetups once or twice a year, so we can work with scientists and specialists to keep everybody in the community, like the ReNU family, up to date. But being able to connect with so many families, because a lot of the doctors don't really know of ReNU Syndrome yet.  [00:13:46] Christina: So if we have a problem or a question, we put it in the WhatsApp group, and then somebody can answer it because they've been through it, or they, they've just asked the question. So it's just an amazing resource for everybody   [00:14:02] Sharon Jones: That sounds amazing, and it sounds like you've all obviously become experts by experience.  [00:14:04] Sharon: So, like you say, you kind of know more, you know, as the science develops, but you're living it every single day   [00:14:10] Christina: It's kind of, you go into the hospital and they're like, "Oh, what's ReNU Syndrome?" And then you're like, "Ugh." So, then you just have to say it all. But, and then it's kind of them bringing, teaching new people who don't know about it in the medical professional.  [00:14:26] Christina: We always give them the website so that they can go and then find, but being able to put more medical stuff on the website, it just helps everybody, and it's just broadening it out to as many people as possible. Because there's still a lot of people undiagnosed with RNU syndrome. It's, now it's easier to be signposted, but it's just keeping that connection.  [00:14:49] Sharon: Yeah. And, and from what I understand, it's got quite an interesting sort of origin of a name, RNU. Where did that... Do you know much more about where that came from?   [00:14:57] Christina: So, Nicky is the amazing person who, um, sorted the name and um, the origin. So, I'll pass that over to Nicky to answer that question because she's just amazing   [00:15:11] Nicky: Uh, so the name ReNU syndrome is an interesting story.  [00:15:13] Nicky: So, a lot of disorders or diseases are named after people. So, we all know Alzheimer's, Parkinson's, etc. And they're often scientists or clinicians that have spent a lot of time working on them. I think that's a little bit odd. I don't think it's the first thing that somebody should know about a disorder, is the name of somebody who's, who's worked on it or studied it.  [00:15:36] Nicky: But they're a very, it's very hard to find an alternative. When we were initially doing the press release around our paper, we had a quote from one of the mothers, Nicole Cedar, who has a, a wonderful daughter called Mia Joy, and she said that within their family, they like to refer to RNU, to RNU4-2 as ReNU, which is a really nice play on the RNU in the gene name.  [00:16:00] Nicky: So then I had an idea, okay, let's just change the spelling to make the, the kind of big R, little E, large N-U, then it would link to the gene name, but also would be a name that speaks to hope and the renewed hope of being given a diagnosis.   [00:16:13] Sharon: Yeah, absolutely, and that's a great, a great story and a great way of kind of making it feel like there is, there is always hope.  [00:16:20] Sharon: So, you know, Nicky, you're now part of the patient community. In a way. You know, so how does it feel to be on that other side of it from that sort of research perspective and now kind of, you know, in that, in that community?   [00:16:34] Nicky: It's amazing. I've got a new family as well. It's not, not just Christina and everybody.  [00:16:39] Nicky: I kind of, I'm a, a basic scientist. I'm not a clinician. Up until this point, we've always been one or two steps removed from actually interacting with the families themselves. Um, so my life has changed an awful lot over the last couple of years, uh, where now, um, I kind of talk to Christina or the folks in the US, really regularly, kind of on a weekly basis.  [00:17:02] Nicky: Um, so that's really different. And I just kind of want to highlight just what these families have achieved. So it's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and and the others.  [00:17:26] Nicky: Um, there's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France.  [00:17:46] Nicky: So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible. And they've got families, they've got so many researchers that are interested in the cause. They're interacting with the pharma companies. They've upskilled themselves to learn so much about genetics.  [00:18:04] Nicky: And it's just an absolutely incredible thing to watch. They're so, so inspiring.   [00:18:09] Sharon: And from what I understand, Christina, you feel, you know, very passionate about Nicky in the same way, about your paths crossing in this way.   [00:18:16] Christina: Oh, my, yes. Every time I see Nicky, I've met her a couple of times, like, in person now, I just cry.  [00:18:22] Christina: I literally, we saw her at the UK meetup, and she walked in the door, and that was it. I was done. I was like, it's just meeting somebody who has changed so many lives and brought a community to other families. It's just amazing. And the support that Nicky's giving us weekly, daily, is just amazing. It is just life-changing for all of us.  [00:18:49] Sharon Jones: It's such a powerful connection. So Ana Lisa, why is collaboration between researchers, clinicians, and families so valuable in the rare disease research space? You know, and what role do large scale research projects and data sharing play in discoveries like this?   [00:19:06] Ana Lisa: Collaboration is completely incredibly valuable and for progress in the rare disease space where there's just so much still to learn.  [00:19:16] Ana Lisa: So more than half of patients and families where, uh, they're seeking a potential diagnosis, we're not yet able to, to find one, and there's so much yet that we still need to learn, and collaboration in so many different spaces and directions and across different spheres enables this progress. So for example, the fact that we have a really connected, uh, National Health Service and really close working between the NHS and Genomics England so that we can, for those patients and families that, that consent to their de-identified data being shared in the National Genomic Research Library, be able to work with many, many different researchers, uh, whether they're academic, institutions, industry, and try and find all the patients that could benefit from a new diagnosis and, uh, potentially new therapies in future clinical trials.  [00:20:21] Ana Lisa: And without that collaboration, it would be really, really hard to find all those people So because we sort of have a clinical research interface where we can go back to clinical teams and therefore to patients and families, even if there's a really, really ultra-rare condition with very few people known to have it that could be under different specialties in different regions, we would be able to contact their clinical team.  [00:20:51] Ana Lisa: So I think that, that collaborative working with the NHS is really powerful across researchers worldwide. Like in this example where a group in Oxford and a group in US were able to make this finding and then all the other findings that are coming from it. And really, without being able to compare across thousands of genomes, one wouldn't have been able to see this, this particular signal and see that there were more than 100 patients, and that was really powerful.  [00:21:20] Ana Lisa: If you just had one genome, you could never have made this novel discovery. I think the other thing is that, and Nicky will say that, you know, she, she then contacted her collaborators who also had access to, to, to data that had been shared by other families and could compare. And again, it's a whole sort of network across the globe.  [00:21:41] Ana Lisa: And we know that there are going to be many more diagnoses to be found. But also, um, I think collaboration will allow us to find new, new treatments. So if we can start to design treatments that target the DNA and RNA at, at source, then actually you could collaborate and say, "Well, this type of genetic mechanism could be targeted in the same way, potentially across even more than one rare condition and reach even more patients."  [00:22:13] Ana Lisa: And actually the power of collaboration across the ecosystem is that hopefully we'll end up with a pathway that can actually go from finding a new genetic finding, like Nicky and her team made, to helping all the people who could benefit from a diagnosis, having one, and then can one develop a treatment and get it to as many patients?  [00:22:42] Ana Lisa: And, and I think that will really demonstrate the power of collaboration.   [00:22:47] Sharon: Yeah. Absolutely, and it can only, you know, benefit those families who have to wait such a incredible amount of time.   [00:22:55] Ana Lisa: There's been such a diagnostic odyssey, and as more diagnoses are made, it becomes obvious that there's, uh...  [00:23:03] Ana Lisa: and it was, it's already well-described, the therapeutic odyssey. Um, but hopefully these sort of novel understanding of our genome and opening up new biological avenues to treat, um, hopefully will also enable many more new treatments to be developed.   [00:23:21] Sharon: Absolutely, and that is the key word there is, is that hope.  [00:23:24] Sharon: So, so looking ahead, Nicky, what developments are you most hopeful about over the next few years?   [00:23:31] Nicky: That's a difficult question. There's so much, so much happening. One thing is that we are gearing up to do large scale studies across the world to understand more about the progression of ReNU. So you might call them large scale natural history studies or just large scale profiling studies where we can do a range of different tests on ReNU patients and, and monitor them over time.  [00:24:02] Nicky: So do those at regular, regular intervals over time so we can see what the progression looks like. And that's really important for trying to think about whether we can treat RNeU syndrome. And on that note, I'm very also excited about the potential for therapeutics. There's lots of people all around the world, both, uh, in academic settings, but also in pharma companies trying to work out whether this is something that we can treat.  [00:24:30] Nicky: There's some very promising early data to show that we can selectively remove the RNA containing the mutation from cells, uh, leaving the copy of the RNA that doesn't contain the mutation intact so that can do the correct function. And biologically, we think this should be an effective treatment.  [00:24:54] Nicky: Um, so we can do that in cells in a dish. We don't yet know whether we can do that in a patient with ReNU. Uh, but that's really, really promising early data. Um, so I'm very hopeful about where that, those studies might lead.   [00:25:08] Sharon: And Ana Lisa, what role will genomics continue to play in improving understanding and care for rare conditions like this?  [00:25:15] Ana Lisa: So following on from what Nicky said, I think the really big hope is that we will be able to develop many, many new treatments collaboratively across the world. And whether these are individualised treatments made for one patient but then shared because we can find perhaps other patients who could benefit from the same treatment, whether we understand the genetics better so that we can design treatments from the start that will work for a lot of patients.  [00:25:46] Ana Lisa: So I think there will be sort of fancier and fancier ways of targeting rare conditions. And right now we're in a phase where the ecosystem is trying to work out how could we make an end-to-end pathway with initiatives like the Rare Therapies Launchpad in the UK, and that's going to require truly collaborative working.  [00:26:08] Ana Lisa: No single organisation can do that. And I think having these incredible use cases will be really powerful for turbocharging the development of these pathways. And the hope is that once you've worked out how to do this across a range of different rare conditions, that one might reach a stage where one could do that a lot faster for many other rare conditions.  [00:26:35] Ana Lisa: Because at the moment they're so underserved in terms of treatments available and there's a huge gap between being able to make a genetic diagnosis and then having treatments. The big hope is that understanding the genetics better will help to open up new pathways to treatment. I do hope that we'll also understand other aspects.  [00:27:02] Ana Lisa: So for example, it might be that understanding the genetics better also helps us to understand different ways a condition might manifest in somebody, why it may be different from one person to another, why somebody might be more mildly affected and somebody perhaps more severely. And that might, may also help us to understand ways to treat a condition by getting, gaining these insights which are, are useful in and of themselves and may also lead to new therapeutic, uh, possibilities.  [00:27:36] Ana Lisa: I think that would be one of my hopes that a lot of these areas overlap and lead to real benefit for patients and families, that we can translate that hope into concrete improvements in treatment for rare conditions.  [00:27:57] Sharon: Do you have a sense of time, how long you think this could all take, that amount of collaboration?  [00:28:06] Ana Lisa: Yeah, and I think this is actually another reason why sometimes it's quite tricky to make progress in this area because being able to predict those timelines is notoriously difficult when you look back historically. I'd like to hope that we're on the cusp of having an explosion of novel treatments that can target DNA and RNA, for example, or treatments that target something in the underlying biology that we now understand that we didn't before.  [00:28:34] Ana Lisa: And I do think that there is going to be a big shift. But I think that the sort of confidence intervals around how big that range of time might be is very hard to predict. And that's why I think Christina and Nicky being able to share these stories and about their collaborative working really shines a spotlight on, on what could be done and how progress can happen.  [00:29:02] Ana Lisa: That's really exciting. The other day at a conference, someone from industry stood up and said, "Oh, actually, we set up a clinical trial in the UK because we knew there were patients who could benefit from our work in the National Genomic Research Library," and that was really exciting for us because that's what we want to do; move forwards the opportunities for treatment for patients.  [00:29:28] Sharon: And so finally, Christina, as a parent and member of this community, what are your hopes for the future, and what would you say to families who may still be searching for answers today?   [00:29:39] Christina: It is a long journey, but there is the support and the help out there. If you have any inclination that you think you might have ReNU, reach out to your paediatrician or your doctor to see if you can get your genetic testing done because it's fighting to get the test, to go to people and say, "I think this is what we may have. Can we look into getting it tested?" And reach out to other families and the website and things because it's all about community and supporting and helping people find that diagnosis.   [00:30:16] Sharon: Thank you, Christina, and we'll put the website in the episode description. A huge thank you to Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares for joining me today and sharing their insights and experiences. To learn more about ReNU Syndrome, visit renusyndromeuk.org. If you'd like to hear more stories about the people, research, and discoveries helping to shape the future of healthcare, subscribe to Behind the Genes on your favourite podcast app.  [00:30:45] Sharon: Thank you for listening. I've been your host, Sharon Jones. Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan, and Katie Revell at Bespoken Media. 

Send us Fan MailIn this podcast I talk about how to BOOST WELLBEING for LONG COVID recovery. I  explain the concept of 'being well', and what constitutes 'wellness'. I outline the connections and interactions throughout the body and mind that underpin wellbeing. I then explain the strategies on how to facilitate this, based on the 5 key essential elements to achieve wellbeing, that will aid recovery from Long Covid.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Bristol, North Somerset, South Gloucestershire and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

A nationwide-first treatment phone-addiction centre is launching next month. The Touchgrass service in Auckland's Grafton will treat 13 to 24 year olds - and their families. Forty percent of young people in a recent Internet NZ survey reported being addicted. Clinical lead, Frances Russell, says there isn't a one-size-fits-all approach to helping. "What we're talking about here is different levels of harm. So it's really about matching the level of intervention to the level of need for that young person and their whanau." LISTEN ABOVESee omnystudio.com/listener for privacy information.

Send us Fan MailIn this podcast I talk about the use of VAGAL NERVE STIMULATION for LONG COVID. I talk about the therapy and why it is useful, the side effects, contraindications and the practical aspects of VNS.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Bristol, North Somerset, South Gloucestershire and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

Join our hosts for Thursday's show from 4-6pm where we will be discussing: ‘ Alcohol: It's Not Worth It ' and 'World Cup: Latest News' Alcohol: It's Not Worth It Alcohol impacts people's lives, relationships and health. Join us as we discuss the challenges people face, the support available, and how greater awareness can help people to make informed choices. World Cup: Latest News As we draw towards the close of the tournament we reflect on all the action on and off the pitch. Guests: Andrew Misell -  Director for Wales at Alcohol Change UK, charity who started Alcohol Awareness week. Ryan Erispe - Is a clinical lead of The Cabin, a rehab in Thailand. Dr Mohammed Alsaidi - Consultant Psychiatrist & Clinical Lead at Turning Point Producers: Sabiha Tariq and Imam Salman Qamar

On episode 239 I am joined by Professor Tom Cosker is a Consultant Orthopaedic Oncology Surgeon at the Nuffield Orthopaedic Centre, Oxford, and Clinical Lead for the Oxford Sarcoma Service. He specialises in bone and soft tissue tumours, with a particular interest in upper limb surgery and reconstruction. Alongside his clinical work, Tom is an Associate Professor and Director of Surgical Anatomy at the University of Oxford, where he is helping to shape the next generation of surgeons.A recognised leader in surgical training, Tom has pioneered the use of 3D printing, his work combines cutting-edge technology with practical clinical expertise, and he has published extensively on orthopaedic surgery, anatomy, and surgical training.In this episode, Tom shares insights from his career as a surgeon, lessons from the operating theatre, high pressure environment, human potential and also reflects on the lessons learned from training and mentoring surgeons around the world.This episode is sponsored by ⁠⁠⁠Sport Expo Ireland⁠⁠⁠,  a brand-new event taking place at the Sport Ireland Campus on April 21st and 22nd, 2027.  Designed to connect stakeholders from every corner of the Irish sporting landscape. Attendees will hear from leading voices in sport, take part in interactive workshops and masterclasses, explore the latest developments in elite performance, business and technology. Whether you're involved in elite performance, grassroots, business, or simply passionate about where Irish sport is heading, ⁠⁠⁠Sport Expo Ireland ⁠⁠⁠is set to become one of the most exciting gatherings on the sporting calendar. To learn more, register your interest, and explore opportunities, visit https://qrco.de/bgrRu3 Follow The Sideline Live Social Media channels and the host Orla here: ⁠https://linktr.ee/TheSidelineLive⁠Recorded using Samson Q2 microphone, Edited using GarageBandIntro music, Watered Eyes by a talented Irish artist, Dillon Ward check him out ⁠⁠⁠here⁠⁠⁠ . If you are looking to set up your own podcast get in touch with the Prymal Productions team ⁠⁠⁠⁠www.prymal.ie⁠⁠⁠⁠ 

Send us Fan MailIn this podcast I talk about the use of LOW DOSE NALTREXONE for in LONG COVID. I talk about the drug and why it is useful, the dose regime, the side effects, contraindications.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Bristol, North Somerset, South Gloucestershire and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

In this episode of the St Emlyn's Podcast, Iain Beardsell speaks with Anna Dobbie, consultant in emergency medicine and pre-hospital care, and Clinical Lead for London HEMS. Recorded at Trauma 2030 at the Royal College of Surgeons in London, the conversation explores what it means to lead exceptional teams in one of the most high-pressure areas of emergency medicine. Anna reflects on six years as Clinical Lead for London HEMS, sharing lessons on leadership, culture, psychological safety, difficult conversations, managing strong personalities, and supporting clinicians to do their best work. The discussion also touches on the unique nature of pre-hospital care, where teams move rapidly between downtime and high-intensity clinical decision-making, and where trust, openness and mutual respect are essential. Anna describes the importance of making sure all voices are heard, not just the loudest, and explains why leaders need to be consistent, approachable and willing to have honest conversations when things do not go as well as they should. Anna also reflects on learning leadership on the job, the value of formal leadership training, the challenge of maintaining boundaries when you care deeply about a service, and the relationship between London's Air Ambulance and its supporting charity. Finally, Iain and Anna look ahead to the future of trauma care and pre-hospital medicine, including research, ECMO, marginal gains, quality improvement, and the continuing ambition to reduce preventable deaths from trauma. Learning from podcasts? If podcasts form part of your CPD, you can log your listening time across all podcasts on MedPod Learn — not just St Emlyn's — and generate structured reflection. The app is free to download, includes a one-month free trial, and offers globally adjusted pricing. Trauma 2030 TRAUMA 2030 united experts and innovators to shape the future of trauma care. Over two days, it explored breakthroughs in science, systems, and frontline practice, fostering collaboration across disciplines. The symposium aimed to inspire research, inform policy, and build a bold roadmap for trauma care worldwide.

Send us Fan MailIn this podcast I talk about the common LONG COVID symptom of going HOT and COLD. I talk about the possible medical conditions in which temperature dysregulation is a problem that need to be excluded. I then explain the underlying causes for going HOT and COLD in LONG COVID. I make recommendations how to best manage this troublesome symptom, what to expect regarding its prognosis and the expected time scale for its improvement.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Bristol, North Somerset, South Gloucestershire and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

When critical illness strikes, families are often thrust into a world of uncertainty, fear and impossible decisions. A new programme aims to bring comfort, communication and intentional "gentleness" into one of the most high-tech environments in healthcare. What does a kinder ICU look like, and why could it change thousands of lives? 7,600 patients are expected to benefit from it. Tan Tock Seng Hospital (TTSH) and the National University Hospital (NUH) have launched "A Kinder ICU" supported by Lien Foundation with a combined investment of $3.93 million. Ms Luo Ren, Programme Director, Lien Foundation & Adj A/Prof Poi Choo Hwee, Clinical Lead of ICU-Palliative Care Service Senior Consultant, Department of Palliative Medicine, Tan Tock Seng Hospital share more with Michelle Martin.See omnystudio.com/listener for privacy information.

Send us Fan MailIn this podcast I talk about how to BOOST the IMMUNE SYSTEM for LONG COVID. I  explain the structure of the immune system, it connections with other systems around the body and how they interact. I outline the functions of the immune system and the consequences of lowered immune function. I then make recommendations on how to boost and optimise its function, based on the 5 key elements that are essential for a healthy immune system. I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Bristol, North Somerset, South Gloucestershire and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

Join our hosts for Monday's show where we will be discussing: 'Child Obesity' and 'Parenting in a digital world ' Parenting in a digital world In today's digital age, children are spending more time online than ever before. From online learning and to social media addiction and mental health pressures we ask how parents can guide their children through it. Child Obesity Childhood obesity is rising rapidly, with unhealthy diets, low physical activity and increased screen time putting children at risk of serious health problems. Join us as we discuss what needs to be done. Guests: James Emmett - He is the Clinical Lead at the Place2Be charity. Dr.Muddassar Ahmed - general practitioner and clinical lead at premier private gp clinic. Soban Bashir - He's a cybersecurity expert and regional leader for the Smartphone Free Childhood movement in Greater Manchester. Mazz Malik - First year Foundation year doctor studied from Brighton and Sussex Medical School and also has a BSc in Neuroscience. Jeremy Tod - Managing Director of the Coram Family Lives charity. Producers: Manahil Khalid, Mutbashra Ahmed and Maryam Syed

In this episode Dr Marilena Giannoudi discusses all things heart failure with Dr Sam McClure. They begin with how to diagnose and classify heart failure with reduced ejection fraction and heart failure with preserved ejection fraction before moving onto treatment and when to refer to the Heart Failure Team. Dr Sam McClure is a Consultant Interventional Cardiologist and Clinical Lead for Heart Failure in Sunderland. Dr Marilena Giannoudi is a cardiology registrar based in Leeds. She is Co-Chair of the Trainees and Members & Committee, a Fellow of the Higher Education Academy, and is currently undertaking a PhD. Recording Date: 30 March 2026 -- Useful Links -- ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure (2023 Update) - https://www.escardio.org/guidelines/clinical-practice-guidelines/all-esc-practice-guidelines/focused-update-on-heart-failure-guidelines/ European Heart Journal, Volume 44, Issue 37, 1 October 2023, Pages 3627–3639 - https://academic.oup.com/eurheartj/article/44/37/3627/7246292?login=false Chronic heart failure in adults: diagnosis and management (NICE Guideline) - https://www.nice.org.uk/guidance/ng106 H2FPEF Score for Heart Failure with Preserved Ejection Fraction - https://www.mdcalc.com/calc/10105/h2fpef-score-for-heart-failure-with-preserved-ejection-fraction -- Follow us -- https://www.instagram.com/rcpedintrainees -- Upcoming RCPE events -- https://www.rcpe.ac.uk/events -- Become an RCPE Member -- https://www.rcpe.ac.uk/membership/join-college Feedback: cme@rcpe.ac.uk This podcast is from the Trainees & Members' Committee (T&MC) of the Royal College of Physicians of Edinburgh (RCPE).

To mark International Clinical Trials Day this May, Cancer Trials Ireland is set to Host “Let's Talk Trials” discussing the importance of clinical trials for the advancement of medical research…Joining Ciara to discuss this is Prof. Seamus O'Reilly, Clinical Lead, Cancer Trials Ireland.

42% of people at the end of life die in hospital when they would prefer to be at home or the hospice. The new EELERT system has helped 200 people in the last 8 months, be where they wished to be at the end of their lives. Dr Mary Parkes and Kat Lacey, the Rosemary Foundation's Clinical Lead, tell Mike Waddington about this highly sensitive area with a respectful and compassionate service. The Emergency End of Life Response Team - EELERT - is provided by a partnerhship of the NHS, Rowans Hospice and the Rosemary Foundation in Petersfield.See omnystudio.com/listener for privacy information.

Lindy Myers, MS, CCC-SLP, pediatric speech-language pathologist (SLP) and Clinical Lead at Coral Care, discusses the first few weeks of newborn life and how SLPs, occupational, and physical therapists can help families as they adjust to their new normal, including … Continue reading →

Walk into any petrol station, grocery shop or locker room today and you are likely to find a colorful tin of nicotine pouches.They are small tea-bag-like sachets containing a strong amount of flavoured Nicotine. There's no smoke, it's absorbed straight into the bloodstream.These pouches have become increasingly popular amongst young people but what are the dangers and how addictive are they?Joining Shane to discuss this is Dr Garrett McGovern, Clinical Lead with HSE Addiction Services.

Polycystic ovary syndrome, a condition that affects one in eight women, has been renamed in an attempt to cut down misdiagnoses.The hormonal disorder, estimated to impact 170 million women worldwide, will now be known as polyendocrine metabolic ovarian syndrome.For more on this, Ciara is joined by Dr Caoimhe Hartley, Clinical Lead for Women's Medicine at Blackrock Health Women's Health Centre.

On this episode of White Coat Radio, we're joined by two specialty pharmacists making an impact in Tennessee. Dr. Tabitha Sineath ('24), an ETSU Bill Gatton College of Pharmacy alumna who earned both her PharmD and MBA through the college's dual degree program, now serves as Lead Pharmacist at Walgreens Specialty Pharmacy in Nashville, where she is the Clinical Lead for Transplant and Chronic Inflammatory Conditions. She is joined by Dr. Katie Cox, who manages Walgreens Specialty Pharmacy in Knoxville. Together, they share insights into careers in specialty pharmacy, their work in women's health, and the real-world applications of their training.  Full transcript: Tabitha Sineath Because you take back bits and pieces from every experience, whether that be as a student on rotations to your first job or what you ultimately grow into. It's the bits and pieces that you know as part of your experience that truly kind of define you over time. So don't. My advice to students is don't give up on that and continue to kind of seek those out because you know in your heart where your passion lies, you have to make the pathway. Michele Williams Welcome to White Coat Radio, a podcast from East Tennessee State University. Bill Gatton College of Pharmacy in Johnson City, Tennessee. Each episode, we cover a wide range of topics about the pharmacy school experience, from study tips to deep dives with faculty and student pharmacists. I'm one of your hosts, Doctor Michelle Williams, assistant professor and director of academic success. Stephen Woodward And I'm Stephen Woodward, marketing and communications manager. Today we welcome Doctor Tabitha Sign at the 2024 alumna from Gatton, who, in addition to earning her PharmD, also completed our dual degree program to earn a master of Business Administration while she was here. That prepared her to now serve as leave pharmacist at the Walgreens Specialty Pharmacy in Nashville, Tennessee, where she is a clinical lead for transplant and chronic inflammatory conditions. Stephen Woodward But today, we have not one but two specialty pharmacies joining us. Doctor Katie Cox, who manages Walgreens specialty Pharmacy in Knoxville, also stopped by. Let's hear from them now. Doctor Cox, doctor Sineath welcome to White Coat Radio. Thank you all for coming out today. Katie Cox Thank you for having you. Stephen Woodward Can you start by telling us about your roles at Walgreens and where you work? Katie Cox Yeah. Tabitha Sineath So I am, lead pharmacist at our specialty site in Nashville. And, oversee primarily our transplant in chronic inflammatory condition patients. Stephen Woodward Okay. Katie Cox So I work at Walgreens as well. I manage the, specialty pharmacy structure at Walgreens is a little bit different. I mean, it's the site that's in Knoxville. And, what's called registered manager, local specialty. So I'm over the whole site. I'll own kind of your accreditation and specific accreditation, not just for specialty pharmacies, but it does apply, within the specialty pharmacy field. Katie Cox Then there's an M.O., which is a pharmacy manager, and what we traditionally think of as a pharmacy manager. And then they're all kind of structured differently, which is what I love about specialties. It's like each side is a snowflake. It looks a little bit different. So the Nashville site has care. Teams are a little bit larger site. We are a newer site. Katie Cox I launched our site in 2023. And then we've got five pharmacists now, but we don't have a specific care team, so we kind of all share and own the disease state since we've structured a little bit differently than Nashville. Tabitha Sineath Yeah. And we talk about care teams a little bit. That's just kind of a delineation of what type of disease state we're managing. So in in Nashville, we're a little more bucketed. We have a virology and oncology pharmacist who oversees those patients, neurology, who oversees, like migraine and seizures. And, I oversee chronic inflammatory in our transplant, which includes not only solid organ but stem cell. Tabitha Sineath And we have a unique partnership with Sarah Kane and clinic across the street, as part of the tri star network, to help those patients. And then we have a lot of miscellaneous specialty that kind of filters in, that don't really fit nicely into a bucket. So that's kind of where we all cross-train and help out. Stephen Woodward Okay, cool. Thank you. Michele Williams Yeah, that sounds great. So can can each of you tell us a little bit about what led you to specialty pharmacy? What it is about your your background, your work experiences, those kinds of things. And, Tabitha, if we could start with you, that would be good. Sure. Tabitha Sineath I started out, as a pharmacy technician for Walgreens, many years ago. I'm not going to say save a year, but, a few decades back, and, my path has not been linear in that sense. But I advance kind of to the top of my level as a technician and wanted to go back into pharmacy to get my pharmacy. Tabitha Sineath And always had been that drive in that pull for me. And finally just took the dive. But I think the catalyst for me was more of like a personal experience that led me to specialty. When I was trying to start our family and a lot of family planning, we realized that we would need a lot of additional help. Tabitha Sineath So in terms of, fertility specialty, we had to go through in vitro fertilization. And with that came a lot of specialty medications that, there was not great education around. And these are really expensive medications. And I, I said to myself, you know, there's got to be a better way to handle this for patients. And so that was really my draw to say, you know, this is this is my niche. 00;05;24;09 - 00;05;31;21 Tabitha Sineath This is where my passion lies. And that's really what I want to do. I want to help those patients, and have great outcomes. Michele Williams That's wonderful. Yeah. Katie Cox So, I also have a very nontraditional path towards pharmacy. When I was in undergrad, I studied chemistry and biochemistry, and I did research for the government on, carbon nanotube technology. I went to medical school, and I got, my medical doctorate, and then I had some health issues, and was trying to figure out how to restructure balanced life. Katie Cox For someone who is a high achiever, that can't work less than 120%, and we give you a lot of leeway for the optimal work life balance. I did not know I would have the additional years that I got so thrilled and pharmacy kind of looked like a great career to dovetail my chemistry biochemistry interest, along with what I had learned in medicine. Katie Cox And so, I finished pharmacy school and I went and graduated in 2016, and I started in, management. So I started out as a staff pharmacist, was not there very long and then started managing. I mean, it's 5 or 6 different sites, kind of jokingly say I was like the cleaner where they would send me to a pharmacy that maybe needed to implement better workflow or had some structure issues, or maybe had lost a really good leader and was trying to kind of figure out how to get back to where they were. Katie Cox And so I would kind of get us realigned and going well. And then specialty pharmacy, which I think is a great topic to talk about because I think a lot of times when you think of Walgreens, you don't necessarily think of specialty pharmacy. But it is a huge section of Walgreens. And I even when I started working for Walgreens, I did not know that we had specialty pharmacies. Katie Cox At that time, there was not one in Knoxville on the closest ones were either Nashville or Bristol, Kingsport. And so I took the opportunity to go and shadow at those sites and kind of see what it looked like. And it was a really great niche sort of space and community where you still do a lot of clinical work. Katie Cox And have long term interactions with your patients. I similarly had a fertility journey when my husband, we were trying to have our daughter and so helping patients navigate some of the fertility and understanding how much of the communication gets dropped off between the patient walking out of the physician's office and then coming into the pharmacy or getting the medications, and how probably a lot of the issues with our health care system are kind of this lack of continuity of care or like regular check ins with the same person who knows your history. Katie Cox And so I feel like specialty pharmacy fits so great into that space. And it's kind of under utilized in some capacities for patients both with billing access and then like long term management. And so I always like to include to you, like when I talk to students, they say, well what is specialty pharmacy like? Why is it special? Katie Cox And I kind of always joke, you know, it's it's an interesting and really great question to ask because there's not technically a specific definition of specialty pharmacy. Right. Medicare, Medicaid, our two biggest payers don't actually define specialty pharmacy, which kind of means that it ends up being defined by third party payers in some capacity, by manufacturers and access points and by some capacity, because there's drugs that are limited distribution drug, you can only get certain places. Katie Cox But a really good point like definition would be highly expensive, medications or medications that potentially would have chronic issues or adverse events that could occur because of the conditions that we're managing would make it more difficult to distinguish between like maybe an adverse event versus something that's happening with like multiple comorbidities. So it helps with tracking for data. Katie Cox So we learned in school, you know, about the four phases of studying drugs. And so I'll always talk about specialty pharmacy really fits into that post-marketing phase of study. And so always ask my students like how how did you decide. We tell patients 5% of patients have migraines, right? It probably wasn't the thousand patients we looked at in phase three is probably when it hit the market. Katie Cox And we were looking at phase four. Where do we where does that data come from? Right. And so specialty pharmacies usually provide data points. That go towards far more manufacturers and really also help us as pharmacists or clinicians tell patients about what to expect with the medications. But a lot of that is related to the adverse event reporting that we do. Katie Cox So we do track patients very much long term, talk to them on every refill, track adherence, track side effects, and then report that back so that that data can be used to help, you know, benefit patients in the future. And so it's really helpful. So you're kind of participating in the research around drug habit in specialty pharmacy, whether you recognize it or not, because there's so much data reporting that we do within the pharmacy industry, which is helpful in the long term for us to determine which patients should be optimally on that therapy, especially if it's an orphan drug or an unusual one that's going to have a small patient population using it. Katie Cox How do we get enough data to make that tractable for us to make better decisions in the future, when we're setting up guidelines or taking care of patients? Michele Williams I hadn't realized, although. Yeah. Stephen Woodward What does this what does your sites look like physically? Are they like the Walgreens on the corner, or does it look like something else? Tabitha Sineath Yeah, they're I mean, they're open door. So it's not, closed door pharmacy. We have patients that can come in and fill antibiotics if they want to. But primarily we serve more like a mail order type facility. Okay. Probably 95% of everything that we do goes out the door via Fedex. And that's just our courier that that we use. Tabitha Sineath But everything is communicated with those patients and, basically effectively shipped, so. Okay. But yeah, we have patients that walk in, in Nashville, we are situated very close to Vanderbilt University. So we have a lot of students that, even though there are two community sites that kind of flank us on either side, patients tend to find us either via walking route or some other way, but typically, our sites don't appear like a normal Walgreens, so you may pass it or you may just not even notice it in general, it's kind of very indiscreet. Stephen Woodward Okay. Tabitha Sineath And we don't have the big neon out front. And, you know, we always try to tell patients that are coming in to pick up either because of, you know, a delay. They don't want to wait for overnight delivery. I want to get started on therapy immediately. They're welcome to come in and pick that up, and we'll make those arrangements. Tabitha Sineath But we always for that visit. This is not your run of the mill big box. Stephen Woodward Yeah, I want to yeah. Katie Cox There's two. So there's two flavors of Walgreens specialty pharmacies. There's health systems and then there's community based. So health systems, what it sounds like do you located within the health system, usually inside a hospital. So within Tennessee we have one at Bristol. So the Bristol Regional Medical Center and then we have one in Kingsport. Those are both inside a hospital. Katie Cox Otherwise they're most often close to a campus, except for my site, which was the first or site in the company where a pharmacist flipped a retail site to a specialty site. So most specialty sites are built organically because the the structure inside the building looks different. I started with what was called a Cooper site, which was an ideal Walgreens had, where a lot of the, the, profit is made in the pharmacy. Katie Cox So it was a shrunken front end with a pharmacy and the main portion of it. And so we ended up converting that. So so what did we do? We gutted the front. So when you walk in. So ours is located in the strip mall, you'll notice, a lot of the community, specialty sites are located in the strip mall. Katie Cox And they'll say it'll say Walgreens Specialty pharmacy. But when patients walk in is when they notice a difference. So they might say, oh, Walgreens on the swing in here. And then they walk in and go, where's where's all your stuff, you know, and no, we have no friends. There's nothing. So there's just a counter. And then it's like, oh, I'm sorry, we only have like prescription medications here for you. Katie Cox And we do about the bulk of what we do. We also originally had a drive thru. We would close to that drive thru because, an a hole tell students when you come in and when you go to a normal retail site, where's the hustle and bustle? It's in the fill zone, right? Like if we're filling, we're checking prescriptions. Katie Cox We're counting at the window. When you're in a specialty site, the bulk of what we're seeing, the stress to you is a phone list that you're doing. And so you're going to see way more desks. You're going to see way more people on the phone. There's still patient interactions. It just looks a little bit different. And so anytime someone's been a traditional Walgreens pharmacist and they come to Cross-train in specialty, we kind of joke within the first hour, really high level, community pharmacists will go, oh, I see my skill set does not necessarily apply here because I'm used to the workflow structure being so different. Katie Cox And so it looks a lot different. So I always tell people, if you I hope you really enjoy talking to patients and having longer conversations, because that's kind of what we do here. And spend a good bit of time in doing a consultation with the patients. So before we dispense a drug, we do what's called an initial. Katie Cox And you may be on the phone with a patient for 30, 45 minutes, you know, very extensive discussions around the medications and what it might look like. And like we talked about before, continuity of care. Sometimes we're the first person really having a conversation with the patient about the diagnosis that they may have received. We have just found out I have multiple sclerosis. Katie Cox I've just found out that I've got Parkinson's. I've just found out I have cancer, you know, and now I'm talking to you all trying to navigate the drug aspect of this. And you're telling me very large numbers and lots of side effects, right. And so sometimes we call it kind of like a, we jokingly call it can like the specialty come down like you come in on the phone and then at the end we hope that you feel like, oh, I now understand a little bit of what I'm what I'm about to do and have some ownership in the process, being the patient in this and not feeling like I'm just kind of Katie Cox getting subjected to a lot of information and not knowing how to take like actionable next steps on it. And so example of that would be in specialty, which I think is a little bit different than a retail pharmacy is. We set a goal with the patient for every drug. And so how do we decide that that's the drug's working for you as an effective is it not effective. Katie Cox What does that look like? You know, we might have drugs that are very specific, like, oh, we're going to see a lowering of this lab, but you're not going to feel different versus another drug that might be, hey, this drug only allows you to live to a life of that. Right? So that's a good example I give to my students all the time, is that's a really specific drug that maybe we want a lot of adverse event data on, because while the drug is designed to let you live a little bit longer, unfortunately the condition that you have, most likely you will pass away when you're on this medication. Katie Cox So we want to make sure to tell them exactly specific of what to expect, what, how many days we think we're going to get and set a realistic and like logical goal for the patient. So maybe for a long drug, it might be I want to be able to play on Saturday when my grandkids come over, a lot of our pulmonary drugs, it's, my laundry room is downstairs. Katie Cox I can't do my laundry because I get out of breath. I have to sit down for an hour. So I want to be able to go down and come back up. And so I think it's really helpful in creating conversations for patients to determine, like, how do I decide this is going well, and then how do I use it appropriately to try to get the results that I'm talking to you guys about that are possible. Katie Cox And then even more so, maybe setting realistic expectations, right? Sometimes we feel like, particularly in this day and age, that we might have a cure all with a medication, and being able to set realistic expectations like, hey, this drug is going to help, with your liver, liver fibrosis, but we're also going to have to do like diet and exercise for you to achieve the goals that we're talking about and things like that. Katie Cox So that I feel like they really understand the process and can define what good would look like and how that might be different between different patients. Michele Williams That's very cool. So it's like really, really specific patient counseling relationships, talking about how the medication is really to a very specific degree. Katie Cox And then kind of gauging it based on the individual. Right. Something that we don't always in a lot of health care settings have the time to do. And that's one of the things I like about specialty pharmacy is you kind of have unlimited time. So I always joke to to my students, I'm like, it's like something so fantastic is something so terrifying, right? Katie Cox So somebody might go, oh my gosh, I can sit on the phone as long as I want. That sounds fantastic. And another person might go, oh, it sounds terrible. You know, I don't know where it's going to end. Right. And so it's like we're yeah, figuring out how to optimize it for what you feel like and how you want to be a pharmacist. Katie Cox And and that's one of the beautiful things about specialties. I feel like, like especially at a site like in Nashville, where you've been established for a really long time, you've got a lot of varied pharmacist roles at your site, and you can kind of gauge based on some of these goals and like what makes them happy at work, where you're going to pocket them for how much interaction they have with with patients and counseling versus leading to a team members versus, you know, like compounding or. Katie Cox Right. So you know, it's a beautiful profession because you can decide exactly what makes you happy during the day and then cater the role towards what you would you would want to get out of the day. Tabitha Sineath And there's so much variability even to between our care teams. I mean, I think the skill set for virology and oncology is very different from, say, miscellaneous specialty or somebody who's doing, a cardiac medication. And then we have, you know, non non-sterile, compounding that, we also do and we ship to ten different states. So with our site, we're dealing with patients from Maryland to Ohio to North Carolina. Tabitha Sineath I mean, it just varies all the way down to the south, Louisiana and Mississippi and Georgia. So our patients truly are all over, and really, I think you kind of hit on that. The beauty of what we do is the relationship building, because that in a sense, not only gets patients access, but it gets them engaged not only in their care, but also kind of what that outcome for them looks like. Tabitha Sineath And we can partner that with a lot of resources that we have the time and the functionality to do. And some of that is like the financial aspect because these medications are crazy expensive. Some of our neurology medications are about $100,000. Our, you know, hepatitis C treatment. You're looking at anywhere from 30 to 90,000, depending on which avenue in which vein we go down. Tabitha Sineath So, you know, in terms of like the payor aspect, you have to have great control, which is why access as many times is restricted just as specialty because of payers are going to be investing in that medication for that patient. They want to make sure that their outcomes are positive. So we do a lot of education and a lot of resource, facilitation with those patients to make sure that, you know, my goal is for them to walk out with zero. Tabitha Sineath So there's no out-of-pocket expenses to them. And we have access to grants and different foundations that can also kind of help funnel and provide those resources to make that happen. So when you talk to a patient who, you know, has a make applied prescription, that's $100,000, Tabitha Sineath That financial burden down to zero. I mean, that's that's the difference between, in some cases, life or death for these patients. Wow. Michele Williams So, thinking about our current students here again, what what sort of advice would you give? Student pharmacist who would be interested in going into specialty pharmacy? Tabitha Sineath I always say, if you can shadow get your foot in the door. Certainly work as a technician. Work in the field. That's going to give you the best access. You not only find out, is this really where you want to be? Because that's the most and part, the most important part of it. Nobody wants to, you know, show up day in and day out. Tabitha Sineath If that's not where your passion lies. Yeah. So finding that niche I think early on, is really helpful. But a lot of that begins with the proactive nature of that student. And then you have to step out of your comfort zone and say, this is something I'm interested in. How can I help facilitate that? You should network this around you. Tabitha Sineath Talk to people who are in that field. You know, we all have we all have connections. So it's really kind of navigating who, you know, and, drawing those, those webs together. Katie Cox You know, I get asked this question a lot by my students, and it's evolved over the last decade of me being a pharmacist. So I think when I was a newer pharmacist, I used to give the advice of like find a really good. And it's still not wrong advice. It's just evolved a little bit. I think in the beginning it was fun, a really good mentor and and make sure that you're like, find somebody who you feel like optimized in their career the way that you want to be, and then ask those questions and figure it out. Katie Cox And I think as I've been in the profession and trained a lot of students, I precept for for schools, I've recognized maybe two, just like how I define that for them, because we don't do a fantastic job in grad school, we're very focused on like making sure we enter the profession well, right. We're going to be good professionals. Katie Cox We want to learn what we have. And I kind of joke like we have we're really good at herd mentality, right? Like you're joining the profession of pharmacy, right? We're all joining this together. But self-awareness and like an individualized approach to your career is a trickier thing. And it makes sense because that's how we kind of do education. Katie Cox But I think a different way of saying find a good mentor is doing what you would like to in your career is saying find out, like become more self-aware of what makes you happy. So I always tell students when you're on rotations, and I know, you know, I always ask them their biggest fears to not like great on rotation around, but typically ask the question that I don't know the answer to. Katie Cox Well, let me tell you, you're going to get asked a question that you don't know the answer to. Precept. Every month I've teed you up so that I can teach you with the question. Right? So get over that hurdle and start thinking about what days when you're on rotations, do you leave and think, because we all have a day at work out where you leave and you're like, oh, I picked the right job. Katie Cox I'm so happy. I love what I do. This is a great day. And then equanimity of life, right? There's another day where you leave and you think, oh, oh shit, that's something else. I wish I'd opened that little shop I should have, like, learn how to do interior design. So you like, you know, it's like equanimity, right? It's both of those days. Katie Cox But I think there's if you can track like some trends to that, especially on rotation. That's the idea of rotations, right? The joke at school was always the moment you felt comfortable with where you were going, was the moment you were going to stop going there. Right about week 3 or 4, you start getting comfortable. You love the team you're with and and boom, it's like, oh, 48 hours later, you get to go on and like learn how to like adjust another month. Katie Cox That's a really great life skill to build on. And then recognizing when you're on those rotations, when you love the day or hate the day, what was it? Was it what you did? Was it who you were with? Was it your schedule? Was it the environment? You know, and then figuring out when with self-awareness like what that looks like, which is really hard with how we do grad school. Katie Cox Right? Like I joke, when I have most students, especially when I have a couple of them, I'll say before you make a decision, what do you do? Right? What do you do? You call your friend and you go, hey, I was thinking about doing this. Tabitha, what do you think about me doing this? You think I should do this? Katie Cox You think you should do this rotation? Do you think I should go and do this internship? You think I should take this job, right? We vet it from someone else. But. So I'll give the example. We have five girlfriends that all are pharmacists. We all have different jobs, we all live in different states and we all have different personalities. Katie Cox And so we all, so we have one who works at Kaiser Permanente. She's an inpatient doing it there. I have one who worked in a nonprofit HIV community clinic, that helps patients there. I have, me that means in a specialty pharmacy, I have someone else who manages a retail site. And we all have equal complaints because work is work, right? Katie Cox It's not one or the other, but we all have different personalities. So one of us loves talking to patients all day. Wonderful. One of us is like, no, I'm good on that. I'd like to lead over here in the office and not do that right. And she loves that. Right. And so I think sometimes we lose that in school, a little bit of of utilizing the APIs to learn about ourselves we get so stressed about like especially here at Gatton, like you're good, you're going to pass for that. Katie Cox Like you're going, you're going to be a pharmacist. So focus on being your happiest and best self and then figuring out how to use those APIs to figure out what is your best day look like. And then how do I figure out how to create a career for myself where I have the best day? And so I always tell my students, I'm like, I'm sure anyone can think of that one disgruntled person, right? Katie Cox He's like, well, I can't believe you went to pharmacy school, which I went through here, you know, waste your time. But it's probably not because of pharmacy, right? It's probably because they're not optimized to like, their self-awareness or their happiness. And so figuring that out early on and and then the other thing that I think is a really great piece of advice is careers aren't where they used to be. Katie Cox This is in the 40s and 50s where you picked your job, and that first job is the job you retired from, right? Like, you can move around in your career. And while change is hard for us as humans, I think it's great to be able to explore. So you're just looking for your first job, right? And then figuring out what you use that to leverage to the next. Katie Cox I'm actually my first job as a staff pharmacist, and I became a manager. Then I managed a bigger pharmacy. Then I decided I wanted to do specialty pharmacy. Now I manage a specialty pharmacy, and I'm hoping to launch that into managing more specialty pharmacies over different states. But so what's that next growth moment and like space moment for you and then figuring out how to optimize it for you as an individual. Katie Cox Instead of feeling like you need to fit yourself into the career of pharmacy. Tabitha Sineath I think those breadcrumbs along the way to kind of help like define what that pathway looks like, because you take big bits and pieces from every experience, whether that be as a student on rotations to your first job or what you ultimately grow into. It's the bits and pieces that you know as part of your experience that truly kind of define you over time. Tabitha Sineath So don't. My advice to students is don't give up on that and continue to kind of seek those out because you know in your heart where your passion lies, you have to make the pathway, but you have to be proactive about it. Katie Cox Yeah, I think when I was younger, I thought lifelong learner meant drugs. And now I'm like, no, no, no. It means so much more than that. It's not just the knowledge for like what you're doing in your work, but it's also like lifelong learner about myself, about my profession, about how to interact with patients and engage them and advocate for them and give them agency and what that looks like. Katie Cox And it changes over time as you change, but like recognizing that so that you don't get in there in a rut and think, well, I'm not happy now when I was well, you've evolved, you know, evolve your profession with you and you'll always be happy. Michele Williams That's such great advice. Yeah, that's really good advice. Stephen Woodward We've we really appreciate you all being here. I think that was a great note to end on. But, thank you all and hope to see you again soon. Katie Cox Absolutely. Thank you. Tabitha Sineath All. Thanks. Stephen Woodward Thanks for listening to White Coat Radio. If you haven't already, be sure to subscribe and leave this review. To learn more about ETSU Bill Gatton College of Pharmacy, visit us at ETSU.edu slash pharmacy or follow us on social media at ETSUpharmacy. We'll see you next time.  

Episode Overview In this episode, I speak with Anna Mosikian, a physician by training and Global Clinical Program Lead working at the intersection of clinical development and strategic marketing. Anna brings a powerful perspective on how clinical data translates into real-world value—bridging evidence generation, regulatory expectations, and commercial impact. We dive into what clinical leaders truly expect from statisticians and how statisticians can move from technical contributors to strategic partners. We explore what “good collaboration” really looks like in practice, why understanding the purpose of a study is critical, and how statisticians can elevate their impact through communication, proactiveness, and cross-functional thinking.

In this episode, we explore how REBOA can become an integrated tool for deliberate physiologic support in profound shock. REBOA is a word that immediately commands attention in pre-hospital care. For many teams, it represents the edge of capability, a high-stakes intervention reserved for catastrophic haemorrhage and profound shock.  Many clinicians still think of it primarily as a haemorrhage-control device: inflate fully, plug the leak, and hope for the best. But in profound shock, bleeding is only part of the problem. Coronary perfusion hinges on proximal aortic diastolic pressure, and if the heart isn't being perfused, everything else we do is on borrowed time. Today's guests, Dr Jon Barratt and Dr Halden Hutchinson-Bazely, sit at the cutting edge of this shift in thinking. Jon is a Consultant in Emergency Medicine and Pre-Hospital Emergency Medicine with the British Army and the NHS, serving as Clinical Lead for Research and Clinical Innovation at Yorkshire Air Ambulance and as a MERIT Consultant with West Midlands Ambulance Service. He is a Senior Lecturer with the Academic Department of Military Emergency Medicine and a founding force behind the SPEAR programme, a resuscitation training initiative that leverages ultrasound-guided arterial access and physiologic targets to support patients in deep shock. Jon was also principal investigator for the ERICA-ARREST trial, investigating the use of REBOA to augment coronary perfusion in out-of-hospital cardiac arrest. Hutch is a pre-hospital care doctor at London's Air Ambulance (LAA), specialising in exsanguination, and an intensive care doctor at St Bartholomew's Hospital, specialising in ECMO. He is practising in endovascular resuscitation across the spectrum of the medical and trauma fields. Together with Jon, he is a SPEAR and EVTM faculty member and was an investigator for ERICA-ARREST. He brings a thoughtful and clinically grounded perspective to trauma management, with a focus on practical decision-making in high-pressure environments. His work reflects a commitment to evidence-informed practice and continual learning within acute care systems.You can find more on SPEAR here: https://journals.sagepub.com/doi/10.1177/11297298241242157And here: https://www.eaaa.org.uk/what-we-do/research-and-education/clinical-education/spear 

Join Professor Peter Nash from the Griffith University in Brisbane, and Professor Helena Marzo-Ortega an academic clinician and the Clinical Lead of the multi-award winning Leeds Specialist Spondyloarthropathy service at The Leeds Teaching Hospitals NHS Trust, as they discuss her recent paper ‘EULAR points to consider and consensus definitions for difficult-to-manage and treatment-refractory psoriatic arthritis'.

Send us Fan MailThis is an UPDATE on VOICE PROBLEMS in LONG COVID. I talk about the management, treatments and outcomes of Voice Problems in Long Covid.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Dorset, Bristol and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

In this episode, we explore how individualised medicines are evolving from “n=1” treatments (a treatment effective for a single individual) into approaches that could transform care for many people living with rare conditions.  Advances in genomic medicine are making it possible to design highly targeted treatments based on an individual's genetic information. While these therapies may begin as bespoke solutions for a single patient, they can often be adapted, refined or reused to benefit others with similar conditions.  While the research is evolving, the systems needed to deliver these treatments at scale are still catching up. From regulation to access, our guests discuss what needs to change to turn this potential into reality.  Our host Sharon Jones, is joined by:  Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England  Mel Dixon, Participant Panel member and CEO and Founder of Cure DHDDS  If you enjoyed today's conversation, please like and share wherever you listen to your podcasts.  “However rare your condition is, someone has a right to have hope. Everybody should have a hope that we should be able to find a treatment.” You can download the transcript or read it below. Sharon: What if treatments once designed for just one person could now help many others? Thanks to advances in genomic medicine, regulations are changing and research is expanding. This opens up more options for treatments for rare conditions. But what does this mean and how close is real change? I'm Sharon Jones, and this is Behind the Genes. We look at how genomics is changing healthcare, covering everything from cutting-edge research to real-life stories. Individualised medicines are a fast-moving area, but there's still a big gap between scientific progress and what's actually happening to patients. You could call it the gap between hype and hope. Ana Lisa: However rare your condition is, someone has a right to have hope. Everybody should have a hope that we should be able to find a treatment. Sharon: Coming up, we'll hear from Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England, and Consultant in Clinical Genetics at Cambridge University Hospital, as well as Mel Dixon, member of the Participant Panel at Genomics England and CEO and founder of Cure DHDDS. Mel opens this chat by explaining why developments in individualised healthcare really matter to her. Mel: This issue is really personal to me. I have three children, two of whom are affected with an ultra-rare DHDDS gene variant, for which there is currently no treatment. Their condition causes symptoms such as, well, it varies between mild to severe learning difficulties, seizures, tremors, and movement and coordination difficulties. But the, the most worrying thing for us was that this condition is actually also progressive. So over time it becomes more of a Parkinsonism and some patients experience dementia-like symptoms and psychosis. So for us to get a treatment that targets the genetic cause of, of their condition is, like, the most important thing in, in our lives. If we could intervene now, they could potentially, at the stage they're at, you know, live an independent life with, with some supports. But if the disease is left to progress, it would be a very different outcome for them. Sharon: I mean, that sounds so difficult and I can't even imagine how life is for you and your family. And I can see what is driving you to find anything to extend the life of your children and to give them that opportunity to, to have a better quality of life. And then Lisa. Ana Lisa: It's a huge burden for families to carry. And I think at the moment there's an additional layer of burden, which shouldn't fall on families, to feel like they need to forge a pathway for their child to have a chance of a treatment. That's, that's a lot to bear. Mel: I think as well, families feel they almost have to become mini scientists in their children's specific condition overnight, because you go to these appointments with the consultants and nobody's heard of the condition and they don't know, they just don't really know what to do with you. So they're asking you, you know, so tell me about this, this gene change. What, what does it do? What does it mean? So you have to become the mini professor in your child's condition to be able to advocate for them. We've had to really learn on our feet so that we're able to advocate and push for research into DHDDS, because without us doing it, nobody else was going to be. Sharon: Yeah. So that's, you know, that's partly what we're here and what this podcast is for, it's here to support families to, to understand this stuff. And Ana Lisa, can you just break it down to us, what is individualised medicines? Ana Lisa: An individualised medicine that's made for one individual person. In reality, sometimes there are other individuals that can also benefit from the same medicines, and sometimes actually, although the medicine is made for one specific person, it might be made using a strategy that other patients could also benefit from, either directly, exactly the same, even, or through tweaking them so that they could work for a different patient. In the context that they're most often referred to at the moment, they're therapies that are being made based on the genetic information about somebody. Sharon: Thank you. I mean, that sounds amazing. And now coming to you, Mel, what does receiving a diagnosis mean for a family? And how do you navigate the space between finally having answers and the reality that the treatment may not yet exist? Mel: So for us, I think, we went down the, the diagnostic route in the hope that we would be able to find a treatment for our children, or there would already be a treatment in place. But unfortunately when we got their diagnosis, we were told that their, their condition was ultra rare, neurodegenerative and also newly discovered. So there was, there was no treatment pathway and actually minimal research happening into it at the time. So it was frustrating, upsetting, um, and it felt like quite a hopeless situation at the start, but actually this was just over three years ago. And through a lot of proactiveness on our part in fundraising, we've been able to better understand the condition and we now have treatments in the pipeline. So in that three-year window, from there being nothing, we now have treatments both in terms of potential drug repurposing candidates and also, um, an individualised therapy called an ASO is also in development for them. So it was hard, but it's given huge benefit to us. Otherwise, we'd just be going, remaining going from specialist to specialist without having any answers or understanding why their symptoms were progressing. Sharon: I mean, that sounds really, really tough and you know, coming back to you, Ana Lisa, could you talk us through how genomics is changing the way we can treat rare conditions? You know, what types of individualised medicines now exist and how do they even work? Ana Lisa: Maybe I'll start with how some of these medicines are working. So with, without going into details, but the sort of principle that these medicines might be able to, to do something called gene editing. So our, our DNA, uh, the instruction manual is made up of genes and it's now can be possible scientifically to change even a single DNA letter code in somebody to try and ameliorate the symptoms of their rare condition. You know that's phenomenal scientific progress to be able to do that. I think a lot of people have heard about gene therapy, where one is trying to get into the body a gene or part of a gene that might be able to sort of replace the function of a gene that isn't working as it should. There are various other strategies. So our DNA is actually used to send messages to our body, if you like, to, to decode these instructions. And so there are medicines that target the next step in this process, the RNA, which are the ASO therapies that Mel was referring to earlier. And really what those are doing are either trying to correct for a protein in our body that isn't working as it should, or to try and get rid of one that shouldn't be there. And so they can act in different ways. And that's actually quite powerful, because you can, theoretically, use these strategies to correct for different genetic rare conditions. So I think going to the sort of first part of your question, maybe if I can phrase it as "directly at source". If you can go upstream and target in a very direct way the cause of a rare condition, then actually you might be able to apply those same principles to many different types of rare condition. We know that there are, you know, 8,000 as a very ballpark number of rare conditions, and it might be that these strategies could be used I don't want to say for all rare conditions, but for many rare conditions where we find the genetic cause, these strategies could collectively be a very powerful way to treat them. And traditionally we've had to understand all the underlying biology, find a druggable target, find a drug that could target that, that's safe, effective, et cetera. And that's a lot of work. And that's still very, very valuable. If we were going to do this for these thousands of conditions, it would probably take us hundreds to thousands of years, collectively. And these strategies provide a lot of hope for being able to do this in a, in a more efficient way, where we can actually use the information used to treat one rare condition and apply those learnings to another rare condition. Sharon : I mean, that's really helpful to understand. So if the science is there, why aren't more patients benefiting from it yet? You know, what's standing in the way from your perspective? Ana Lisa: That's a really good question, and it's complex because the, our whole ecosystem is made up of, of many parts that go from finding a potential strategy that could help a rare condition to a patient benefiting from that. And I think one thing that maybe we haven't touched on yet is the fact that rare conditions can be really rare and affect a really small number of people individually, even though we know collectively they affect so many. You know, in the past it's been easier, if you're taking a condition that's common, that affects thousands of people, it's easier to see and to be sure whether your new medicine is actually working as you think it does and should, and having the benefits that you think. The, the sort of regulators have really clear guidance. We have lots of knowledge about how to assess treatments and have a randomised clinical trial, for example. How the reimbursement process may work in a public healthcare system. And when you, when you, when you sort of set down into the really rare, this is difficult for each stage of the journey. The transformation that's needed is a whole, system-wide transformation to be able to regulate in a scalable, equitable way, these therapies that could actually be an N of one treatment for one individual, that actually maybe one day another individual may also benefit, and sometimes even a group of individuals. It's not just the, the regulator, it's also how do you make it viable. So again, you have to make it scalable, equitable. And even to implement in the NHS down to this very "N equals one" level, and demonstrate that patients could benefit from these treatments, might require sort of fancier ways of assessing these treatments, whether it's statistics, other methodology and I think it's really the system-wide nature that makes this tricky, but is also a fantastic opportunity for, for collaboration, because that, that sort of end goal and benefits could be so, so great. Sharon: Yeah, absolutely. And I mean, Mel, for your side of things, it must sound, you know, quite frustrating where the people in the rare community to not see the support being made more readily available? Mel: Yeah, it is particularly difficult for patients and their families. I think in our case, when you're dealing with a neurodegenerative condition, time is of the essence. So when you know that the science is available or it's ready, but you don't have the systems in place to implement them to the patients so that they can access these much-needed therapies, it's worrying and frustrating. And also I see our children are affected with, with, you know, one of these N of few conditions that there's, you know, there's only 59 confirmed cases of DHDDS worldwide, and we've seen how the system firsthand doesn't fit ultra-rare patients. We can't, when we were looking at drug repurposing, we can't do a traditional clinical trial because we don't have the patient numbers and we don't have the funding. So a placebo-controlled trial just wouldn't be possible for us when there's only, I think, seven confirmed patients in the UK and, um, four that we're actually in, in, in touch with. So it does feel, I think, as Ana Lisa was saying, that we really need a system rethink, um, and refit so that it does start to accommodate these ultra-rare conditions, especially now as there's therapies which are showing huge benefit to patients. Sharon: And so with like all of these challenges, where are you seeing things shift and what does meaningful progress really look like for you? Mel: At the end of last year, the MHRA announced that they were rewriting the regulatory framework for rare conditions, and that fills us with lots of hope for the future. They're recognising that the traditional systems don't work for particularly ultra-rare conditions, and now that we do have these therapies in the pipeline, we, we want to get the patients to be able to access them. And we're also seeing innovation in how evidence is generated and measured. We witnessed this firsthand with our son as he was undergoing baseline tests for his ASO therapy. You know, the use of digital biomarkers, of real-world evidence, how they're increasingly being used for these N of one or N of few populations. And how the individual receiving the treatment becomes their own comparator. So you're not relying on these big natural history studies of the disease or placebo controls. It's you're looking specifically at that individual, getting a really strong baseline and then looking, once they're dosed with the medication, is that improving or stabilising symptoms? So I think this shift in focus is really meaningful for the ultra-rare community and also for them to be part of the decision-making process of what, what benefits do they want from a drug? Like what is meaningful to them? I think there's much more talk about the patients and how the, what will benefit them most. It's not necessarily what the scientists would think or research would think would most benefit, but what, what would make a meaningful difference to the patient? Sharon: I mean, that's good to know because it's kind of putting the person at the centre of, you know, this is what it's all about, isn't it? It's not just the science. We're trying to treat people and it's putting people, people first. Ana Lisa: Just to build on that, it's exactly that, that awareness that is, is growing, I think, that there are so many people affected by a rare condition and, and however rare your condition is, someone has a right to have hope and that the system should be able to cater for many rare conditions, you know, whether they're an ultra-rare or an actually almost common rare condition, everybody should have a hope that we should be able to find a treatment. And it's not a hopeless situation that it's, you know, never going to happen or be too difficult. It's quite powerful, hope. If you can solve for the truly individualised medicine, then you at the same time may also be helping everyone in-between a really common condition and a really rare condition, because right now the system works for common conditions. And if you can take it right down to the sort of radical of, example of an individualised medicine made for one person, then you are also forcing the system to a change for everybody else. And I think that's one of the great benefits of thinking about it as a joined-up system. Sharon: So how do you each navigate between hype versus hope when it comes to rare therapies? Mel? Mel: I like to focus on hope, because when we got our diagnosis, we felt really hopeless and that's a really dark place for a family to be. But as we learnt more about their condition and the rare condition landscape and genomics, we actually learned of all these new therapies that were in the pipeline. We were hearing about, you know, recently, conditions like Huntington's Disease that you never, never previously had any disease-modifying treatment, how they're now being able to be treated with gene therapy with really positive effects. Similarly for other neurodegenerative conditions that have been treated with ASOs, how they're seeing not just disease stabilisation, but improvements. So I know it's, it's still, like, relatively early days with these technologies and therapies, but I think it, it allows families to have hope, which is, which is really, really important, because that statistic, you know, of the, of 95% of rare conditions not having a treatment, it's, it's a really brutal one, uh, to be told at the outset or to learn at the outset. So, you know, if, if these therapies can, can make a huge dent in that, that would be life-changing. It would make a profound difference to many, many families, and I think there's a lot of reason to have hope, taking all of that into consideration. Sharon: And then Lisa? Ana Lisa: I think to work in this area, one needs to be full of hope and optimism because there are so many, um, challenges to overcome as a community. Uh, but I think that means that people are also incredibly collaborative, because they know that we need to work together for this to succeed. And no one, you know, one individual, one organisation can do it on their own. It truly has to be a crosscutting, collaborative endeavour. The fact that we, in the UK, have resources like the National Healthcare System,Genomics England in partnership with the NHS runs a National Genomic Research Library. And so the fact that you could look at, at tens of thousands of, of genomes for many, many individuals with rare conditions. That gives me hope because it means that if a treatment is made for another person, it could be in a different country in the world, and if we could find another patient, it doesn't matter what specialty they're under, where they are, we should be able to find them and connect with their clinical team if, you know, if they've consented for the National Genomic Research Library. And so to me, that feels, that whilst there's, there is a lot of hype in the sense that some of the really well-publicised cases, really had a lot of people working on them and a lot of resources to make it happen. But that gives hope to everybody else that follows that actually it is doable and if we can make better systems, and having these national resources that we do, the fact that, there are a lot of guidelines being written at the moment, both international and national. And again, they show that the sort of scaffolding is starting to be in place to apply these in an equitable scalable way. It might not be that you're so much looking for a specific rare condition as for a particular type of genetic variant that could be targeted in the same strategic way, and that therefore you could look across many different rare conditions. So again, all these sort of pieces of the puzzle are, are filling me with, with, with hope. Sharon: You touched upon, um, inequity there. Now, you know, is there a risk of inequity given what we've talked about in terms of those challenges? Ana Lisa: I think we, we always have to have the lens of equity in everything we, we do. And that, and that really does apply to healthcare and, and in fact, probably the whole rare disease community are, are, are not well served in terms of therapies at the moment. There are so few, um, therapeutic options and so I think there's a massive inequity in that this, our systems are not geared, uh, towards rare conditions. I suppose, you know, different countries have different healthcare systems and some of the sort of first personalised therapies may require a lot of money behind them to, to happen, but they will be pioneers in leading the way for how this can be done. And I think in the UK we have a lot of the infrastructure and the, a sort of a strong, that's very equitable, I think. And so we could do this in a, in a much more open and equitable way. Sharon: Mel? Mel: Cost is always, unfortunately, and it, when it's your family that's affected you, you know, you hate the thought that things are coming down to cost and, and money. But I, I think as Ana Lisa said, if, if the system absorbs the initial cost. You know, it seems that those longer-term costs could come down significantly. We already see with our very small DHDDS community that an ASO, which is an allele specific that was made personally for one, for one child, can actually also benefit my son, even though they have a different variant. So if the cost of the ASO is 1.2 million per person, but if you suddenly find actually one other person can share that, that's almost halving the, the cost. And then if then you're finding out that actually, oh no, 3, 4, 5, 10 people can all have that same ASO, suddenly it becomes much more cost-effective and more sustainable. So I think, as we have to think about cost, I think that also allows us to have more hope that these therapies can, the cost of these therapies that are obviously hugely expensive at the moment, can be brought down in the longer term. Ana Lisa: There are a lot of things that people want to do in the NHS. People can be working under quite hard circumstances, so to talk about making a therapy for one individual can be difficult and people can sometimes, I think, think that it's a pie-in-the-sky conversation. However, I think that, you know, all the clinicians I know who work with families with rare conditions, what they'd most like to be able to do is to be able to offer a therapy. And so I think a lot of people see this as a, as a big opportunity, despite these initial hurdles. One thing I often think about is my grandfather, when he was alive, every phone conversation, he would start with, "How many lives have you saved today?" And so I think that's the, that's our challenge. Sharon: Wow. That's, that's really powerful. Mel: Just echoing really what Ana Lisa was saying, I feel the, um, inequity lies in rare conditions as a, as a whole, from the point of diagnosis to the lack of pathway, um, to, to the lack of system in place for them. You wouldn't have a patient with a life-changing cancer diagnosis receive that information in a telephone call, and that is the stark reality for many rare disease patients. That's how they receive the, that's how they often receive the news. That was certainly our, our experience. And, and from that point, there was then no pathway. It's just this horrendous feeling of isolation. And I think now that there are these treatments in place and therapies in, in place, it's about time we change that because often the rare, the rare condition community, and certainly those with ultra-rare conditions as well, they're probably like some of the most underserved members of the community in that it's their parents and their families that have to advocate. Otherwise, without that, they, they often wouldn't stand a chance of understanding the disease, let alone finding a treatment. So I think the whole system needs to have a reset, to think about these rare condition patients and, put them at the heart as they do for more common conditions. Ana Lisa : I completely agree. And you mentioned cancer, and there are actually quite a few parallels. So there might be really common cancers that affect a lot of people that are being, uh, subsetted down into different groups depending on the genetics that are related to that particular cancer and therefore what treatments might be most effective. And so I think there's, there's a lot we can each learn from each other between the rare disease and cancer communities. Perhaps as in rare disease we scale up to apply the same strategies to many different rare conditions and patients. Even if they're being tweaked for their particular genetic variant and cancer, sometimes one is subsetting down to treat specifically that, exactly that cancer subtype. So there's a lot we can learn and I completely agree that the, the rare disease community deserves the same chance at at treatments, and the hope that that comes with. Sharon: Thank you. It feels like there needs to be some kind of seismic system change along with this piece around collaboration and how, you know, the science is there, but it's how do we bring it to families who are facing these difficulties with it, you know, their children and, and rare conditions. We'll wrap it up there. Thank you to our guests, Ana Lisa Tavares and Mel Dixon, for joining me as we discussed the evolving landscape of individualised medicines. And thank you for listening. If you'd like to hear more like this, please subscribe on your favorite podcast app. Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan and Patrick Wallace at Bespoken Media.  

Send us Fan MailThis is an UPDATE on ANXIETY in LONG COVID. I talk about the management, treatments and outcomes of anxiety in Long Covid.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Dorset, Bristol and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

Send a textThis is an UPDATE on EYE PROBLEMS in LONG COVID. I talk about the management, treatments and outcomes of Eye Problems in Long Covid.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Dorset, Bristol and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

At the Royal College of Anaesthetists' Centre for Perioperative Care (CPOC) Perioperative Leads Day in London, host Andy Cumpstey speaks with James White, a perioperative medicine clinician (and qualified general practitioner) working within the NHS in Cheshire and Merseyside, serving as Clinical Lead for Perioperative Medicine and contributing to national improvement work with the Centre for Perioperative Care, Simon Rang, consultant anaesthetist at East Kent Hospitals University NHS Trust who also contributes to national healthcare improvement work including with the Centre for Perioperative Care, and Denny Levett, Director of the Centre for Perioperative Care, and a Professor of Perioperative Medicine and Critical Care and Consultant at University Hospital Southampton NHS Foundation Trust and the University of Southampton. The conversation covers how UK perioperative medicine policy is implemented through evolving NHS structures. They explain the relationship between national policy (Department of Health, NHS England) and delivery via regions, integrated care boards (ICBs), and local trusts, emphasizing integrated pathways spanning primary and secondary care, particularly post-COVID. James outlines five core requirements: early perioperative screening, proactive optimization/prehabilitation, maintaining health while waiting, listing patients only when medically fit, and shared decision-making. The guests discuss how regional and ICB networks share solutions, address variation and barriers (including finances and culture), and use CPOC guidance and resources alongside initiatives like GIRFT to support consistent implementation. -- Join us at Evidence Based Perioperative Medicine (EBPOM) World Congress 2026 in London. Be part of a global conversation as clinicians from around the world gather between 7-9th July at the British Library in London. Three days of evidence-based perioperative medicine, global insights, and expert debate—featuring speakers including Michael Marmot and Ken Rockwood. Register here - https://ebpom.org/product/ebpom-world-congress-2026/

Kristin speaks with two pharmacists working in menopause care: Bo Kim, clinical pharmacist and founder of EmpowHer Menopause in Perth Jarrah Anderson, Clinical Lead at MedCast and member of the Quality Use of Medicines Alliance In this episode Types of menopausal hormone treatment (MHT) When different MHT options are used in perimenopause and menopause. Safety conversations Current thinking on precautions and contraindications, and how to explain risks and benefits clearly. Access and cost in Australia PBS considerations, affordability and opportunities for pharmacist support. Bio‑identical and body‑identical hormones Why it matters for patient communication. Testosterone in menopause care What the evidence says about when it can be used and practical issues with prescribing and access. Non‑hormonal therapies Options for symptom management, including the emerging medicine fezolinetant. Links: Medcast Qhub - quality use of medicines resources - https://medcast.com.au/qhub    Australian Menopause Society Complementary medicines and therapies: options for menopausal symptoms - https://hub.menopause.org.au/Play?pId=3234710f-e5db-4aa1-bff8-ae98449fffad    Guide to MHT/HRT Doses - https://hub.menopause.org.au/Play?pId=6ecead60-db26-4dfc-a662-794d7b39ef59   Jean Hailes  Perimenopause and menopause symptom checklist https://jeanhailes.org.au/wp-content/uploads/2026/01/Perimenopause-and-menopause-symptom-checklist_TGD.pdf

Send a textThis is an UPDATE on TASTE AND SMELL PROBLEMS in LONG COVID. I talk about the management, treatments and outcomes of Taste and Smell problems in Long Covid.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Dorset, Bristol and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

This episode is sponsored by Welbeck - providing beyond better healthcare.  In honour of World Hearing Day on March 3rd, we're talking about something most of us take completely for granted… until we can't hear the waiter, the TV suddenly “too quiet,” and everyone starts mumbling. This week, we're joined by leading ear surgeon Joseph Manjaly, Consultant Otologist & Auditory Implant Surgeon at OneWelbeck ENT and Clinical Lead at Royal National ENT and UCLH, who spends his days quite literally changing how people experience the world. We get into the surprising truth about hearing loss — including why it's not just an “old person thing,” how midlife hearing loss is now the biggest modifiable risk factor for dementia, and the everyday habits that could be quietly damaging your ears. Joe explains: Why hearing loss happens (and why it's not always about ageing) The link between hearing loss, brain health and dementia Tinnitus — what that ringing actually is, and what you can do about it The biggest myths about hearing (yes, we're looking at you, cotton buds) The incredible technology already restoring hearing — and what's coming next Plus, we talk about the emotional side of hearing loss; from isolation and confidence to the life-changing moment when someone hears clearly again. Because hearing isn't just about sound it's about connection, memory, and staying engaged with the people you love. And after this episode, you may never put a cotton bud anywhere near your ear again!  Join Our Private Facebook Group https://www.facebook.com/groups/1115099072702743/?ref=share_group_link Instagram  https://www.instagram.com/selfcareclubpod/ YouTube https://youtube.com/c/SelfCareClub TikTok https://vm.tiktok.com/ZMLnXyS1S/ Email hello@theselfcareclub.co.uk  Website www.theselfcareclub.co.uk Studio production by @launchpodstudios Music by purpleplanet. Learn more about your ad choices. Visit podcastchoices.com/adchoices Learn more about your ad choices. Visit podcastchoices.com/adchoices

These days people are using AI chatbots for everything. These chatbots have a wealth of information at their metaphorical fingertips. But the accuracy of the information that they offer us is, well, questionable. But it makes sense why some people turn to AI for medical advice. They’re usually free, which gives them an upper hand when healthcare in the United States is so expensive. They’re also easy to access, so people can get their questions answered immediately, instead of waiting for an opening at their doctor’s office. And they’re trained to be empathic, which is especially appealing to patients who don’t feel valued in medical settings. In this "Ask a Doctor" segment, we explore the world of health advice and chatbots with two medical professionals. Guests: Angad Singh is a family medicine physician. He's also an Associate Chief Clinical Information Officer and Clinical Associate Professor at UW Medicine. Danielle Bitterman is an assistant Professor at Harvard Medical School and Clinical Lead for Data Science and AI at Mass General Brigham. Related links: A.I. Chatbots Are Changing How Patients Get Medical Advice - The New York Times How to Use ChatGPT for Health Advice | Right as Rain Health Advice From A.I. Chatbots Is Frequently Wrong, Study Shows - The New York Times Thank you to the supporters of KUOW, you help make this show possible! If you want to help out, go to kuow.org/donate/soundsidenotes Soundside is a production of KUOW in Seattle, a proud member of the NPR Network.See omnystudio.com/listener for privacy information.

Send a textThis is Part 2 of an update on Sleep Problems in Long Covid. I talk about the management, treatments and outcomes of Long Covid sleep problems. In Part 1 I talked about the symptoms and causes of Long Covid sleep problems.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Dorset, Bristol and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

Send a textThis is Part 1 of an update on SLEEP PROBLEMS in Long Covid. I talk about the symptoms, causes and the various diagnoses of Long Covid sleep problems. In Part 2 I talk about the management, treatments and outcomes.I am Dr Tim Robinson, formerly a GP for 30 years, retired as planned at the start of the Covid pandemic. Since then I have become involved in the world of Long Covid. Currently I am GP clinical lead for three NHS Long Covid Services in South West England - Dorset, Bristol and South Devon. I am also Clinical Lead for Hope for the Community CIC. I have research involvement as co-investigator in a study on breathlessness in Long Covid, University of Bristol.Long Covid Doctor is an educational series for Long Covid sufferers; each talk covers the many aspects of Long Covid, the symptoms, causes, treatments, management and expected outcomes.Episodes are found on:Apple PodcastsSpotifyGoogle PodcastsYouTubeTranscripts of the individual episodes are available on YouTube as well as:www.LongCovidDoctor.comEpisodes are accessed on:TwitterFacebookInstagramLinked inDisclaimer: Long Covid Doctor is an educational series. Any advice, diagnosis, treatments mentioned should only be considered after discussion with your own GP or qualified professional health provider.Links, resources:NICE Covid-19 rapid guideline:https://www.nice.org.uk/guidance/ng188/chapter/5-ManagementHow to manage post viral fatigue after Covid-19:https://www.rcot.co.uk/how-manage-post-viral-fatigue-after-covid-19-0

There was a significant increase in the number of people recieving specialist care and support following sexual violence. Professor Maeve Eogan, Clinical Lead for National SATU Services and Consultant at The Rotunda Hospital.

The sexual assault treatment unit at the Rotunda Hospital in Dublin recorded one of its busiest years ever in 2025, with a significant increase in the number of people seeking specialist care and support following sexual violence. Clinical Lead for National Sexual Assault Treatment Unit Services and Consultant at The Rotunda Hospital, Professor Maeve Eogan, joined Ciara Doherty to discuss.

In this episode, Dr. Cynthia Brown, Medical Director and Clinical Lead for Women's Health at Elevance Health, discusses Elevance Health's expansion of doula services into select employer health plans, highlighting how doula support improves outcomes, reduces disparities, strengthens the care experience, and creates long-term value for mothers and babies.

In this episode, Harminder (Mindy) Grewal, MD, MBBS, DGO, DiplABOIM, FAAFP, Chair of the Department of Family Medicine at the Wright State University Boonshoft School of Medicine and Whole Health Clinical Lead at the Dayton VA Medical Center, shares how AI is streamlining efficiency and transforming clinical workflows. She discusses promising partnerships shaping the future of care, the importance of serving underserved and rural communities, and the initiatives driving sustainable growth in primary care and whole-health models.

In this episode, Dr. Cynthia Brown, Medical Director and Clinical Lead for Women's Health at Elevance Health, discusses Elevance Health's expansion of doula services into select employer health plans, highlighting how doula support improves outcomes, reduces disparities, strengthens the care experience, and creates long-term value for mothers and babies.

In this episode, we welcome back Josie Winter, Clinical Lead of Advanced Clinical Solutions and creator of the Good Governance Review, the innovative digital tool that helps health and care providers assess their quality, safety, and compliance. Ahead of the Review's exclusive rollout to Altea customers, Josie explains why effective governance focuses on people, culture, and continuous improvement rather than simple checklists. The conversation highlights how strong leadership, clear structures, and evidence-based practice can enhance accountability, build trust, and improve outcomes for both patients and staff.   Resources: Altea Insurance https://www.alteainsurance.com/ Follow us on LinkedIn https://www.linkedin.com/company/altea-insurance/   *Disclaimer: The information contained in this podcast is not intended to represent a complete analysis of the topics presented and is provided for information purposes only. The views expressed are personal to Josie Winter and Will Marshall and do not necessarily represent the views of Advanced Clinical Solutions or Altea. The content of this podcast is not intended as legal or specific risk or insurance advice and no responsibility can be accepted for any reliance placed upon it. Independent legal, risk or insurance advice should always be obtained before applying any information to particular circumstances.  

In partnership with the World Health Summit for an episode recorded live at this year's meeting in Berlin, host Garry Aslanyan sat down with Monica Bharel, Clinical Lead of Public Sector at Google, and Joy Phumaphi, Executive Secretary of the Africa Leaders Malaria Alliance. Global health knowledge sharing is rapidly evolving due to advances in technologies, increased data availability, stronger community engagement and the rise of voices beyond traditional institutions. Joy and Monica shared insights into building a more inclusive global health knowledge ecosystem—one that ensures communities everywhere can benefit from credible information, contribute their perspectives and take informed action.Related episode documents, transcripts and other information can be found on our website.Subscribe to the Global Health Matters podcast newsletter.  Follow us for updates:@TDRnews on XTDR on LinkedIn@ghm_podcast on Instagram@ghm-podcast.bsky.social on Bluesky Disclaimer: The views, information, or opinions expressed during the Global Health Matters podcast series are solely those of the individuals involved and do not necessarily represent those of TDR or the World Health Organization.  All content © 2025 Global Health Matters.  

Clinical psychologist Dr. Ros Watts joins Psychedelics Today to share insights from her decade of work with psilocybin therapy and her evolving focus on community-based integration. As the former Clinical Lead for Imperial College London's landmark psilocybin-for-depression trial, Dr. Watts witnessed how psychedelic experiences can foster profound feelings of connection— to self, others, and nature — yet also how that connection can fade without ongoing support. In this conversation, she reflects on what years of research have taught her about connectedness as both a healing mechanism and a human need. She explores how integration work can transform fleeting psychedelic breakthroughs into lasting change, and why community is not just a "nice-to-have," but a core part of psychological and ecological resilience. Dr. Ros Watts also discusses her "Twelve Trees" framework — a nature-inspired model for personal and collective growth that helps participants translate insight into action through values, embodiment, and mutual care. Her current project, ACER Integration (Accept, Connect, Embody, Restore), is a 13-month, co-created journey that guides people in weaving psychedelic insights into everyday life while deepening relationships with self, others, and the living world. Named among the Top 50 Most Influential People in Psychedelics and Top 16 Women Shaping the Future of Psychedelics, Dr. Watts continues to advocate for integration, harm-reduction, and inclusion in the psychedelic space. Together, we explore what sustainable healing really means, how organizations can embody the same principles they teach, and how the psychedelic movement can root itself in care, connection, and community. Learn more about ACER Integration: https://acerintegration.com Find Dr Ros Watt's webpage here. https://www.drrosalindwatts.com/

In this heart forward and real-talk episode, Beth sits down with Alex, skinBe Med Spa's Clinical Lead and Master Injector, to shine a light on what it really looks like to lead with both precision and passion in the aesthetics space. As Alex steps into her first leadership role, the two discuss what it means to rise in your career while staying grounded in clinical excellence, uncompromising safety, and transformative results.They share their behind-the-scenes dynamic, how skinBe is cultivating a culture of growth and grit, and why leading from the treatment room matters just as much as leading from the top. Whether you're in aesthetics, leadership, or building something bold; you'll walk away with insight, inspiration, and maybe a few goosebumps.

Dr Rosa McNamara, Consultant in Emergency Medicine, St Vincent's Hospital and Clinical Lead, HSE National Emergency Medicine Programme, highlights that people with non-urgent conditions could experience a long wait in Emergency departments this weekend.

This week, I'm joined once again by my lovely former co-host and friend, Kate Davies.You might remember Kate as the science bit of The Fertility Podcast, an independent fertility nurse and all-round champion for women's health.These days, she's got a very fancy title as Vice President of Medical, Women's Health and Longevity at Ultra Human, and also works as Clinical Lead for One Day Tests, who've been a previous sponsor of the pod.In this episode, we're diving into what blood tests can really tell you about your fertility and overall health.Whether you're just starting to try, have PCOS, or have been on your journey for a while and still don't have all the answers, this one's for you.Kate and I talk about:What your blood tests can (and can't) reveal about your fertilityHow often you should get your bloods checkedWhy it's so important to monitor cholesterol and glucose if you have PCOSThe key tests to ask for if you've got unexplained infertility such as thyroid, vitamin D, and prolactinHow to use your results to advocate for yourself, especially if you've been dismissed beforeAnd yes, we even go through my blood test results from One Day TestsKate also shares what she's been working on with Ultra Human, including the fascinating world of biometric health tracking.She also introduces something called the Havening technique, a research-backed way to help manage stress and anxiety that's well worth looking into.Mentioned in This EpisodeOne Day Tests

In this episode, I speak with Professor Guy Leschziner, a consultant neurologist and leading sleep specialist who has spent over a decade as the clinical lead at one of Europe's largest sleep disorder centers. Drawing on insights from neuroscience, clinical practice, and evolutionary biology, Guy explores the fascinating world of sleep—from its biological functions to its profound impact on our physical and mental health. Expect to learn: — Why studying the extremes of human behavior helps us understand normal brain function — How sleep affects everything from immune function to cognitive performance — The surprising way our brain's "glymphatic system" cleans toxins during deep sleep — Why insomnia treatments like CBT-I are so effective and how they work. And more. You can learn more about Guy's work at https://www.guyleschziner.com. --- Guy Leschziner, Ph.D., is a neurologist specializing in sleep disorders and epilepsy, serving as Consultant Neurologist at London Bridge Hospital and Clinical Lead for the Sleep Disorders Centre at Guy's and St Thomas' Hospital, one of Europe's largest sleep units. He is also Reader in Neurology at King's College London's Institute of Psychiatry, Psychology and Neuroscience. Dr. Leschziner is the author of The Nocturnal Brain, The Man Who Tasted Words, and The Seven Deadly Sins, and has presented sleep-focused series for BBC Radio and Channel 4. --- Interview Links: — Guy's website: https://www.guyleschziner.com/ — Guy's book: https://amzn.to/3VvTnb6

Dr Rosa McNamara, Clinical Lead for the National Clinical Programme in Emergency Medicine, explains the new national programme for urgent care.