Podcasts about Genome

In this episode of The Road to Genome, we interview Rebecca Middleton at Leicester Royal Infirmary. Rebecca talks to us about her experience as a patient with a hereditary brain aneurysm, through the diagnosis and treatment, and the rollercoaster of emotions this brings. She also tells us about Hereditary Brain Aneurysm Support, an organisation Rebecca set up to support and inform people living with familial brain aneurysms and raise awareness of the condition as a rare disease, representing the lived experience and improving and saving lives.

An interesting new study from the Geisinger health system in Pennsylvania examining if genomic screening in a large population increases the identification of disease risk prompted Raise the Line to re-release a previous episode about a textbook designed to help all medical providers understand the clinical applications of genomic testing. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling from Elsevier Science Direct dives into the use of this important tool in diagnosis and screening, indicating how individuals may respond to drug therapies, and more. “We really need to educate all healthcare providers about the practice of genetics because they're going to be involved directly or indirectly in genetic testing and conveying information about what the results mean to patients and their families,” explains co-author Dr. Ethylin Wang Jabs, enterprise chair of the Department of Clinical Genomics for Mayo Clinic. Jabs and her co-author, Dr. Antonie Kline, director of Clinical Genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center, chose a format that makes heavy use of case studies to help readers get a better grasp on this complicated field and they also include chapters on direct-to-consumer testing and the ethical and social implications in genomic medicine. “Any kind of potentially predictive testing can have ethical issues related to it, including insurance coverage, testing for family members, protections for minors, and more,” says Dr. Kline. Join host Caleb Furnas for an illuminating episode on an area of discussion in medicine that's growing in importance as the use of genetic testing rapidly increases. Mentioned in this episode: Genomics in the Clinic: A Practical Guide If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

As of February 2025, the Generation Study has recruited over 3,000 participants. In this episode of Behind the Genes, we explore what we have learnt so far from running the study and how it continues to evolve in response to emerging challenges. The conversation delves into key lessons from early recruitment, the challenges of ensuring diverse representation, and the ethical considerations surrounding the storage of genomic data. Our guests discuss how ongoing dialogue with communities is helping to refine recruitment strategies, improve equity in access, and enhance the diversity of genomic data.  Our host Vivienne Parry, Head of Public Engagement at Genomics England, is joined by Alice Tuff-Lacey, Program Director for the Generation Study; Dalia Kasperaviciute, Scientific Director for Human Genomics at Genomics England; and Kerry Leeson Bevers, CEO of Alström Syndrome UK. For more information on the study, visit the Generation Study website, or see below for some of our top blogs and podcasts on the topic: Podcast: What do parents want to know about the Generation Study? Podcast: How has design research shaped the Generation Study? Blog: What is the Generation Study? "We always have to remember, don't we, that if people say no to these things, it's not a failure to on our part, or a failure on their part. It's just something they've thought about and they don't want to do, and for all sorts of different reasons. And the other reflection I have about different communities is the ‘different' bit, is that what approach works for one community may not work for another, and I think that that's something that's going to have to evolve over length of the study, is finding the things that are the right way, the most helpful way to approach people." You can download the transcript, or read it below.   Vivienne: Hello and welcome to Behind the Genes.    Alice: “And this is quite an exciting shift in how we use whole genome sequencing, because what we are talking about is using it in a much more preventative way. Traditionally, where we've been using it is diagnostically where we know someone is sick and they've got symptoms of a rare condition, and we're looking to see what they might have. What we're actually talking about is screening babies from birth using their genome, to see if they are at risk of a particular condition, and what this means is this raising quite a lot of complex ethical, operational, and scientific and clinical questions.”    Vivienne: My name's Vivienne Parry, and I'm Head of Public Engagement here at Genomics England, and I'm your host on this episode of Behind the Genes.      Now, if you are a fan of this podcast, and of course you're a fan of this podcast, you may have already heard us talking about the Generation Study, the very exciting Genomics England research project which aims to screen 100,000 newborn babies for over 200 genetic conditions using whole genome sequencing.      Well, we've got more on the study for you now. What we're doing to make it both accessible and equitable for all parents-to-be, and our plans to ensure that we continue to listen to parents, and perhaps in future, the babies as they grow up. We'll chat, too, about emerging challenges and how we might deal with them.    I'm joined in our studio by Alice Tuff-Lacey, the Programme Director for the Generation Study, and Dalia Kasperaviciute, Scientific Director for Human Genomics, both from Genomics England, and we're delighted to welcome Kerry Leeson-Bevers, Chief Executive of Alström Syndrome UK. And I'm just going to quickly ask Kerry, just tell us about Alström Syndrome and how you're involved.    Kerry: Yes, so Alström Syndrome is an ultra-rare genetic condition. My son has the condition and that's how I got involved. So, the charity has been around now since 1998, so quite a well-established charity, but as part of our work we developed Breaking Down Barriers, which is a network of organisations working to improving engagement and involvement from diverse, marginalised and under-served communities as well.    Vivienne: And you wear another hat as well?  Kerry: I do. So, I'm also a member of the research team working on the process and impact evaluation for the Generation Study. So, I'm Chair of the Patient and Public Involvement and Engagement Advisory Group there.    Vivienne: Well, the multiply hatted Kerry, we're delighted to welcome you. Thank you so much for being with us.      So, first of all, let's just have a sense from Alice Tuff-Lacey about this project. In a nutshell, what's it all about, Alice?  Alice: Thanks Viv. So, I think in the last few years we've seen some really big advances in the diagnoses of rare diseases through things the Genomic Medicine Service. But we know it takes about 5 years often to diagnose most of these rare conditions. What we also know is that there are several hundred of them that are treatable, and actually there can be massive benefits to the child's health from diagnosing and treating them earlier. I think a really good example of this which is often talked about is spinal muscular atrophy, which is a particular condition where there is a genetic treatment available and there is a really big difference in families from those babies where the condition was identified later on, versus their brothers and sisters where they were identified early because they knew there was a sibling that had it and they were given that treatment.     What we think there is a huge potential opportunity to identify these children from their genome before they get ill, and this is quite an exciting shift in how we use whole genome sequencing, because what we are talking about is using it in a much more preventative way.  But this is a really different approach to how we've been using it so far, because traditionally where we have been using it is diagnostically where we know someone is sick and they've got symptoms of a rare condition and we are looking to see what they might have, what we are actually talking about is screening babies from birth using their genome to see if they are at risk of a particular condition. And what this means is, this raises quite a lot of complex ethical, operational and scientific and clinical questions.      So the aim of the Generation Study is really to understand if we can and should use whole genome sequencing in this way to screen for rare conditions in newborn babies. We've been funded by the Department of Health and Social Care to do this over the following years, and the way we'll be doing this is by a national study across a network of trusts in England where we are aiming to recruit about 100,000 babies and screen them for rare treatable conditions that we know present in childhood. And really the aim of this is to understand if this will work and how it will work, and to generate the evidence to allow the NHS and the National Screening Committee to decide if this could become a clinical service, and that's very much the primary goal of the study.      Beyond that, however, there are some other aims of the study, and we also consent mothers to ask permission to retain their genomic data and to link it to the baby's clinical data over their childhood, and we'll be providing access to this to researchers in the de-identified way in our trusted research environment. And this is to really understand if that data can also be used to further generate information around other discovery research, but also critically understand that the motivations for parents involved will be very different, and we need to think very carefully about how we engage and work with the parents of the babies going forward about how we use their data.    Vivienne: And the super exciting thing is we've started recruiting. How many mothers have we recruited?  Alice: So, we've recruited over 3,000 to date, and it's building every day and every week really. And it's really exciting because we see more and more trusts coming online and the study building and really starting to learn from the experience. And every week and every month, we're learning much more about how this process works, what the impact it's having, and kind of what we need to do over the coming few months and years to deliver it.    Vivienne: And we did a huge about of work at Genomics England before the study even started, to try and find out what people wanted. So, we found out, for instance, that people didn't want to know about late onset conditions, they did want to know about conditions where there was a treatment, and they wanted things that could be done for their babies in childhood. So, we had a really clear steer from the public about this project before we even started. So, how are we continuing to learn from the people who are involved in the study and the public? I mean Kerry, you've been involved in this aspect. We need to listen, don't we, to find out what's going on?    Kerry: We do, we do, and I think it's really encouraging to see the public dialogue and the amount of engagement work that was done there to kind of identify what some of those areas were, but it's really important that we don't stop that engagement there. It's really important to continue that, and I know that we've got quite a diverse group for our Patient and Public Involvement Advisory Group and the Evaluation Team, and one of the things they're really interested in is how we're going out there to speak with communities. You know, we can't just be reliant on the media, and press releases about the study. We need to actually go to communities and have these conversations so that people can have a conversation within an environment that they feel safe and confident with the people that they feel supported by as well.    So I think it's really key that we continue to ask those questions but also learning from the evaluation and, as we go through the process, of speaking to the patient organisations as well who support families that suffer from some conditions that we plan to identify through this study, and learn what some of their challenges are as well. You know, do they feel equipped to be able to support parents that are getting a diagnosis? As well as obviously their participants and the general public, to make sure that we're aware of attitudes and perceptions as the study goes along.    Vivienne: Because there's always a danger with this kind of study that it's people who are health literate who end up being involved. Whereas some of the people on whom the burden of rare disease is greatest may not either feel that they can access, or would want to access, this study. So, what are we doing there? How are we listening to people?  Kerry: When we are looking at recruitment as well, like you say, you know this is a research study and when we look at history and when we look at participants in research studies, we very rarely do you get a diverse representation of people in these types of studies. So, it's really important that those extra efforts are made really in terms of recruitment to get the right sample of people involved. And I know at Genomics England, that they have invested their time and money in terms of interpreters and translating materials and things, but actually it's the sites and recruiting people that need to be well resourced in order to use recruitment strategies, because if we're just looking at posters in waiting rooms, for instance, you're going to get a particular demographic of people that will respond to those kind of posters, such as people who don't speak English as a first language, it would be really difficult sometimes to read those kinds of posters and then to ask questions about that.     We need skilled people within sites that are recruiting who have got cultural competence who can have those conversations, address some of those areas, some of those concerns so that we can get that diverse representation.    Vivienne: So, there's a whole piece about equity of access for everybody and Dalia, perhaps you can explain why this is so important, scientifically as well as ethically? There's another piece about making sure that we get a full diversity represented.    Dalia: We know that some of the conditions are more common in certain populations or certain communities. We also know that some of the conditions are caused by certain variants in one population but not in the others. And these genetic causes even of the same condition can vary between different communities and different genetic ancestors.  On the other hand, our knowledge about the conditions and the genes, and the variants which cause them, come a lot from what we've seen before. Where we've seen those variants in the patients with the disease, and importantly where we've seen those variants in control populations where these individuals which don't have conditions.      Therefore, if we lack the diversity in our datasets, we would not know about all the diverse reasons of why conditions can be caused, or how it progresses, or what it might mean for individuals. And we would not be able to have equitable testing, or we wouldn't know whether the test works for everyone. If that happened, we might be in the territory where we can't detect or don't detect as well all the conditions across different individuals. But also, we may be having more false positive results and create more anxiety for families as well as burden for healthcare system.    Vivienne: So, are you saying, Dalia, that actually sometimes we might get a false positive, or indeed a false negative, simply because in that person, the condition which we think is usually caused by a particular change, they've got a slightly different change and so therefore we're not picking it up.  Dalia: Indeed, but it's one of the possibilities. If, let's say, all our knowledge about certain genes came from a limited number of individuals, seeing a new variant in another individual might seem that it's something really rare and never seen before and it's potentially changes how the gene functions, we would say; “oh that's maybe something which causes the disease,” when actually it can be that it is a benign variant, just a normal variation which is very common in another part of the world, it's just that we don't have enough data to know about it. So, we need to be aware of those risks and take it into account when we interpret the variants.      And, we also need to be transparent when operating in the environment. There was historical and investment in the diversity in research and our data sets still are not as diverse as we would like to be. It's shifting, the balance is definitely shifting in the last few years. A lot of effort is being done but the only way to shift the balance forever and make that genomic medicine work for everyone is to really actively engage those individuals and involve them in the research, and taking all the effort that Kerry was talking about.    Advert: The Genomics England Research Summit is fast approaching and registration is now open! Join us for this one day in-person event on Tuesday 17 June 2025. This year's agenda dives into rare condition diagnosis, cancer genomics, pharmacogenomics, therapeutic trials, and the impact of emerging technologies. Hear from leading experts and inspirational speakers as we explore the present and future of genomics and the latest research and technology from the Genomics England research community. Keep an eye on the website, genomicsresearchsummit.co.uk for all the details and to secure your spot. Spaces are limited, so don't miss out. We'll see you at the summit!  Vivienne: Alice, that goes back to this thing about holding the genomic data, because you need to hold the genomic data because the thing about genomics as always, you need to know what happens next. So, for instance, if somebody had a negative result and then later developed a condition, you need to be able to go back that data in order to find out what the problem was.  Kerry: That's right. You know, as Dalia talked about, we know that there is a risk within the study and we try and be clear about that in our participant information that there are some babies where they may have a genetic condition that we will need not find it, and others where we might find something that doesn't go on to be the actual condition. And we need to kind of monitor those in different ways.      So in particular in the cases where, if we've returned a result where we don't think we suspect a condition and a baby goes on to develop a condition, it's quite complex how we monitor that, and we're trying to go for a multi-track approach, and I think a lot of the benefits is some of the infrastructure that Genomic England already has that we can utilise.  So, some of the foundational things we've put into the study to help support the approach are things like the ability to contact parents regularly so we can actually work with them to find out over time if their babies develop conditions.    As you say, ability and consent to access the clinical data about the baby so that we can then access national data sets, and then we can then potentially monitor to see if babies seem to be showing signs of developing a condition. And also, really continuing to work with a network of clinical specialists where we've work quite hard over the last couple of years to build that kind of network and engage with them about the study, because they'll be the ones who the babies will come to if they develop those conditions. So, they are a really good route to us finding out, whether or not there are babies who have been part of the study who then go on to develop a condition.     And I think the reality is that this is a really complex process and it's something that even traditional screening programmes really struggle with, and that's why this multi-pronged approach is really important, and why also we see that this approach will evolve over time, and at the moment, the important thing is we've worked hard to put the right foundations in to allow us to do this type of monitoring, and to really evolve that approach as things develop and as more things come along potentially where we can invest in.    Vivienne: So, it's interesting, isn't it, because I guess that some parents would think that if you get a false positive or false negative, that it means that the test is at fault. And actually the accuracy of the test is good, but what we may have an issue with is that there is something else causing the problem that we don't yet know about. So, a big part of this project is giving much, much more information about the causes of conditions.    Alice: Yes, and I think that's also why the discovery research aspect is really important, the fact that we consent for that ability to hold the baby's data. So not only will we want to use it for the evaluation, but as I mentioned at the beginning, we have asked for parents to be able to allow us to link it to clinical data which then allows us to track over time and find out more information, because it's always the quality of the information we know that will help us in the future to identify these conditions, so the more we can generate potential information, you know, the more we will learn as a society.    And so it's actually quite an altruistic thing we're asking of parents, and that's something we recognise and that's why it's also important we think about, how we continue to engage with the parents and the baby over their lifetime to remind them that we're holding this data, but also to understand what their concerns and feelings are about us holding that data and how we're using it for that broader research.  Vivienne: And that's very much what you're involved in, isn't it Kerry?  Kerry: Yes, and I think sometimes in some ways that may offer some reassurance to parents as well, to know that's there as a reference point if things do develop over time, but I know that one of the things we're looking at as part of the evaluation, and the PPI Group we're involved in, is looking at the experiences of patients through this journey because actually it will create quite a lot of uncertainty.      As a parent of a child with a genetic condition, that uncertainty really is one of the hardest things to learn to live with. So at that early stage, one of the things we're looking at is that experience, how much support people have received, whether that has an impact on the parent and their child and their on bonding and their experiences and things like that, and I think it is important that we do that, but I think also having those references, where you're able to go back and ask those questions, that's really important that the support is in place, and that pathway really for parents to know where to go to. Because sometimes, although we may arrange to have calls at regular intervals and things, sometimes the questions of parents don't necessarily come at the time when they are having a telephone call. They come really late at night when there's nobody to pick up the phone, so having as much information as we can available, and those support structures in place, is really key.    Vivienne: We all start off these projects thinking that they are going to go in a particular way, but actually there's a lot of flexibility in this study, isn't there, Alice?  For instance, we will be looking at all those false positives, false negatives because we need to learn from that. We will be, perhaps, changing our approach as we go on if there is something that isn't working out. Is that what we're doing?  Alice: Yes, I think what we have recognise is it is a study and therefore that involves learning by it's very nature, and that's why partly we're working with external evaluation partners that Kerry's involved with, but also why we invest in a lot of things internally. Like we do a lot of user research with our midwives and our participants, and also potential participants. Because, actually we don't know the answer to this. No one's done this before, and so this is about all of us really learning, and learning in the right way and continuing to do that throughout the study, but also more importantly capturing that information and making sure that at the end of it, we then have some understanding of if we were to see that it's right to deliver this as a clinical service, what that might actually involve.      But also, even if we get to that point, I think beyond that we will still continue to learn over time and that's again why that long enduring consent is quite important, because we can then continue to maintain that long term evaluation and continue to maintain that long term potential to help further further research. And so that's the thing where actually we'll be learning for the next 10-15 years, really what the Generational Study has learnt, and actually what we have achieved through it.  Vivienne: I just want to move back to something that you mentioned, Kerry, about conditions that we're looking for, and there were a lot of very specific things. I've said that what parents wanted, but there's also some scientific things, and Dalia might want to come in here, that these are conditions that we pretty sure that if you've got the particular genetic change, that you will get the condition – something called penetrance. So, you know, we're not leaving people with a lot of uncertainty. But, how will we go about assessing new conditions as part of this study, or are we just on the ones that we're on at the moment?  Dalia: So, we started from the things we understand the best and we know how to detect them and we know how to confirm them because the tests that we are doing in Genomics England is a screening test, it will not be a definitive answer whether you have or you don't have a condition. Anyone which will get a positive result will be referred to an NHS specialist clinician for further assessment. And some of those positive results turn out not to have the conditions and some of them will have, and they will have their treatment pathways. So, we're started to very cautiously, and that's what came from public dialogue, everyone was saying that; “you need to be really cautious, we need to see that it works for the conditions that we understand well”.     But as a starting point, as we learn more, we're learning of how could we expand that list.  What would be acceptable for public. Maybe some conditions will have an experimental treatment, which currently would not be included in screening but as treatments evolve, at some stages maybe there will be opportunities to include some conditions in the future.      As our science evolves, we keep assessing the new conditions and seeing can we include them, would it be acceptable to parents, would it be acceptable to the healthcare system, and one of the things about screening it's really important not to cause harm. There are a lot of benefits in screening but if we didn't do it cautiously, it also has some risks, and we need to be very careful about it.    Vivienne: Now Kerry, there are lots of parent groups who will come along to us and say; “oh you must include this condition,” but perhaps there isn't yet a treatment, or there isn't a pathway in the NHS that will help people get what they need. And I guess if we try to include too many conditions, we would actually undermine trust.    Kerry: So, the patient organisation, our condition, Alström Syndrome, isn't included in the list. For our condition, there is no specific treatment although we do have a highly specialised service, and it is very important to get early diagnosis because children can develop heart failure and there are symptom-specific treatments available there. But I get the reasoning why there needs to be a specific treatment and the need to include just a smaller group at the beginning, but our hope as with I'm sure a lot of other patient organisations, is that our condition will be added at a later time if it is found that this is something that would be acceptable in routine care.    Advert: If you're enjoying what you've heard today and you'd like to hear some more great tales from the genomics coalface, why don't you join us on the Road to Genome podcast, where our host, Helen Bethell, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests including the rapping consultant, clinical geneticist Professor Julian Barwell about Fragile X Syndrome, cancer genomics and the holistic approach to his practice. A genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts.  Vivienne: Let me move on to another aspect of this study. These are babies, and we are holding their genomic information but at 16, they will be able to decide whether they want us to continue holding their genomic information. Alice, is that very much part of this programme to think about what we're going to say and how we're going to engage those 16-year-olds?  Alice: Yes, it very much is. What I always say, because I get asked this question a lot, is that I don't think we can pre-judge what that looks like. Because I look at my children, and certainly their lives are very different from my childhood, and I don't think we can imagine exactly what our babies will look in 16 years and what that world looks like. I think the important thing is many of things we are trying to do is that we lay the right foundations in place, and part of that is ensuring that we continue to think about how we engage with young people as the study evolves and over time, so that we understand what the world is looking like from their perspective.      But also, how do we equip the parents to talk about the fact that these babies are part of the study to them? What does that look like? How can we support them? And that's very much something we want to be looking at in the next year, really working with parents from the Generation Study to understand how best we can do that so that they can have some of that conversation for themselves as well. I think we can't pre-judge exactly how we need to talk about them and also not think it's just one thing. We need to evolve and work with the children as they grow up, and work with their parents to equip them because, as I said, we don't really know how they're going to access information in the future. You know certainly TikTok didn't exist when I was a child, and so that's what we've got to think about is what's the best avenues or forums to really engage properly with them as they grow.  Vivienne: Kerry, what other concerns to parents have that we're learning now?    Kerry: I think the concern is that when treatments are being developed, that they are not necessarily being developed for the whole population. They're often being developed for sub-sets of population because we don't have a complete dataset. And when you think about people being involved in research, people feel that they are being left behind because their data is not necessarily represented within there, it doesn't reflect their community, and it's not being discussed within communities, the different research opportunities and things have been available, I think it's the fact that we're not investing enough in community engagement and dialogue to explain more about genetics.   I think technology has advanced at pace. As a parent of a child with a genetic condition, that is very encouraging to see that, but I think sometimes the support and the information is not necessarily keeping up, so we're not having those open conversations really about genetics and genomics, and I think that's one of the things I hope that this study will really lead to, that it will now become much more part of everyday conversation.   Because often, when you have a child with a genetic condition, you first hear about a condition, the way you take in that information and ask questions is very different than having a conversation with the general public about genetics. When you're concerned that your child may have a condition or you may have a condition yourself, you're in a completely different mindset. So, the hope is that that dialogue will open so that people will be able to ask questions to learn more about the projects and things that are out there and available so that people are included and can take part in research if they want to. But it's important to remember that not everybody will want to. It's about being given informed choices and to do that we need to make sure that the support and the information is appropriate, inclusive and accessible.    Vivienne: We always have to remember, don't we, that if people say no to these things, it's not a failure to on our part, or a failure on their part. It's just something they've thought about and they don't want to do, and for all sorts of different reasons. And the other reflection I have about different communities is the ‘different' bit, is that what approach works for one community may not work for another, and I think that that's something that's going to have to evolve over length of the study, is finding the things that are the right way, the most helpful way to approach people.   Kerry: I completely agree. I think it's like you say, if people say no, that is completely their right to do so as long as they're saying no when they've been given the information to be able to really take that on board, think through, consider it and then make an informed decision. I think often people say no because they've not been given the right information to be able to understand what is expected, so they've not necessarily been given the opportunity. And I think we all want good outcomes for everybody. That doesn't mean delivering the services in the same way. Sometimes we need to deliver services in different ways because often services aren't very accessible for some communities to be able to access. So sometimes we need to make changes, adapt, to make sure that everybody has the same opportunities to the same outcomes.  Vivienne: We are constantly re-evaluating, rethinking, re-engaging to try and make it the best we can. Whether it's with different communities and different approaches. Whether it's with constantly assessing people who've had false positives, false negatives and finding out why that is the case. And in the future, I think this will have some really major effect.  Dalia, you're the scientist amongst us today. Tell us what you're hoping for from this study in science terms.  Dalia: So, first of all, we want to find the babies which we can treat before we develop symptoms, before we get ill, so that we can have more fulfilling lives. That's the bottom line. But we're doing that, we also will learn about the conditions. We'll learn a lot about the natural history of the conditions. What happens when you detect it before baby gets ill, then you start treatment, and how does it work in the diverse communities and diverse populations that we've talked about. Are there are any differences based on people's ancestry, but not just ancestry, about their lifestyle, about anything else which can affect how disease develops, or how the care or treatment goes.      So, that's kind of the bottom line. The top line and now our ultimate aim, probably many years from now, would be that we can detect variants of genes or conditions before they develop, and we can create treatments for them before our children get their conditions.  That's something that the science community is very excited about. I think we're quite a few years from that, but that's where we hope all this will be heading in the future.    Vivienne: It's really becoming a possibility, but the science is only the first part of it. It's the human interaction. It's the how it lands with people. It's how they feel about it. It's how they trust it. And these are all the things that we're really working on at Genomics England to make this study not just a scientific success, not just a success for the NHS, but also something that is really meaningful and important and valuable and trusted for people having babies. Would you agree?  Alice: Yes, 100%. I think, just to come in there, Viv, I think we've talked a bit about the importance of public trust and being the foundations of what we do, and I think that's something that Genomics England's always held true to itself, but I think for the purpose of the Generation Study, it's been one of kind of the foundational principles from the beginning, and I think Kerry and you have touched upon some really important themes today about how it's not a ‘one size fits all' approach. And I think very much that piece that we touched on a bit about, kind of, how do we make this accessible to everybody, we see it very much as not a ‘one size fits all', and so we've been trying lots of different things to really tackle that, and evolving the approaches which, as you said, that's where the flexibility comes in.      My hope for the next 12 months is that we can really, now that we've got the study up and running, work a lot with the some of the regional networks, the Genomic Medicine Service alliances who are working at the regional level, and the recruiting trusts, to really explore different approaches and work out how we can support them to engage with the communities in their areas, because they're the ones who will understand who they are, and our role is to really try and provide, as Kerry highlighted, the tools of support to allow them to do that, and to try and make sure that we can make this as equitable as possible in terms of people being able to at least understand the studies here, get the information in the appropriate way, and then as we have also talked about, making their own minds up about whether this is the right thing for them to be part of.    Vivienne: So, the final question for you all is if I'm a mother-to-be, where can I find out more information. Let's start with you, Kerry.  Kerry: Well, from the Generation Study website, there's information there. Midwives, GP practices, obviously they're often going to be your first port of call, so I'm hoping that they feel equipped to be able to answer those questions and to signpost people to one of the trusts that are involved.    Vivienne: And we've also got a Genomics 101 episode where we answer some of the frequently asked questions, and I think there are at least 2 or if not 3 separate episodes from Behind the Genes, which people can look for which look at different aspects of the project. Anything else, Alice, that we need to know?  Alice: So, Kerry highlighted it, the Generation Study website is a really good starting point, but that's a good place to also find out what trusts are involved because it's also important to know that this is not available in all trusts in England at the moment. We have a network and it's growing, and it is all around England, but the first place to start is, kind of, is it in your local trust?  And then from there, it's then engaging with your trust and hospitals where there will be information, and the midwives are prepared to kind of talk to people.  So those are, kind of, the good first places to start.    Vivienne: Well, we're going to wrap up there. It's been so good talking to you all. So, thank you to our guests Alice Tuff-Lacey, Kerry Leeson-Bevers, and Dalia Kasperaviciute for joining me as we talked through how the Generation Study is continuing to evolve as it responds to emerging challenges. Now, if you would like to hear more about this, then please subscribe to Behind the Genes on your favourite podcast app and, of course, we hope that you would like to rate this.  Because, if you rate it, it allows more people to see it and more people to get enthused about Behind the Genes, which we love. It's available through your normal podcast apps. I've been your host, Vivienne Parry. The podcast was edited by Bill Griffin at Ventoux Digital, and produced by Naimah Callachand at Genomics England. Thank you so much for listening. Bye for now.  

Al Bundi is known locally as a music MC and artist but has dedicated most of his life to soil and plant science, specifically permaculture, horticulture, and plant breeding. With over 15 years in the cannabis industry, Al is a product of organic permaculture in Agriculture and is taking these approaches to understanding the source of potential benefits for people aned the planet in the vast cannabis genome.

80% of diseases are impacted by environment or lifestyle described as your exposome.  Thomas Hartung expects information from studying the exposome will bring benefits on par with those brought by studying the human genome.

I encourage everyone to listen to this interview.  Why? It's about your longevity. Yes, adding years to your life—and more importantly bringing life to your years.  It's about taking control of your health instead of leaving it to chance. I know this firsthand. After undergoing extensive advanced medical testing, I feel empowered. I now understand the changes I must make to enhance my longevity while living my best life. My guest is a visionary cardiologist and entrepreneur, Dr. Anmol Kapoor, founder of BioAro Inc., a Calgary-based firm transforming health care worldwide. Dr. Kapoor believes the key to fixing Canada's fragile health care system is shifting from a Disease-Care System, where resources focus on detecting and treating illness, to a Preventative Care System that identifies potential diseases before they even start. Through cutting-edge AI, genomics, and precision health care, BioAro is pioneering methods to detect mental and physical diseases before they manifest, align the right medications with your DNA, and put your health back in your hands. BioAro's technology is gaining global traction—but will Canada embrace it? If so, we could revolutionize health care, turning it into a system of choice, not chance, while saving taxpayers billions. I'm also joined by Mike Scott from RBC Wealth, who will share how RBC is taking bold steps to help clients protect and grow their wealth and health. This episode is a must-listen for anyone eager to understand the future of health care and the actions they can take today to ensure a healthier tomorrow. Stay tuned until the end, when Dr. Kapoor shares his thoughts on how you can add years to your life by becoming the CEO of your health. Don't miss it—your future self will thank you. To find out more about BioAro: Precision Health:  http://bioaro.com To find out more about RBC Wealth Management: https://www.rbcwealthmanagement.com/en-ca/    

Cells may be the building blocks of life (and highschool biology), but who knew they were so complicated? Dr. Samantha Yammine digs into different types of cells and their functions with editorial correspondent Teresa Carey as they discuss the difficulties in defining what a cell even is. Then, Sam speaks with Dr. Sébastien Calvignac-Spencer, a pathogen evolutionary biologist about his work investigating diseases from history. Finally, some curious researchers and entrepreneurs are cultivating actual salmon meat in bioreactors so Sam investigates the process behind growing fish in a lab including the potential ecological effects of cell-cultured salmon hitting the market. Link to Show Notes HERE Follow Curiosity Weekly on your favorite podcast app to get smarter with Dr. Samantha Yammine — for free! Still curious? Get science shows, nature documentaries, and more real-life entertainment on discovery+! Go to https://discoveryplus.com/curiosity to start your 7-day free trial. discovery+ is currently only available for US subscribers. Hosted on Acast. See acast.com/privacy for more information.

In our Season One finale, Dr. Hildreth welcomes back entrepreneur and health equity advocate Marcus Whitney to reflect on the importance of building and maintaining trust in healthcare. Together they'll explore Meharry Medical College's critical role in addressing historical health disparities, particularly for marginalized communities, and the groundbreaking Together for Change initiative that will sequence the genomes of 500,000 individuals of African descent, enabling breakthroughs in personalized medicine that can benefit underrepresented populations for generations to come.

In this episode of The Road to Genome, Dr Tootie Bueser Director of Nursing & Midwifery in the South East GMS, talks to us about her work embedding Genomics into Nursing & Midwifery practice across the south east, from Brighton to the South of London. In Tootie's other role as NIHR Senior Clinical Practitioner Researcher, we also learn about Tootie's work growing research into inherited cardiac conditions at King's College.

Dr. Richard Sternberg speaks on his mathematical/logical work showing the difficulty of identifying genes purely with material phenomena. Source

duckDNA recently concluded its second season, which brought continued enthusiasm from hunters and several never-before-seen hybrids! On this episode, Dr. Mike Brasher is joined by conservation science assistants, Kayci Messerly and Katie Tucker, and Dr. Phil Lavretsky to share initial results from season 2 while discussing genetic mysteries uncovered through the analysis of several unique hybrid ducks. Also discussed are behind-the-scenes interactions with participating hunters and the potential future of duckDNA. Thanks to hunters for their support and participation and a special thanks to our year 2 funding partners -- Pinola Conservancy, Rice Pond Preserve, and Brian Hornung.Listen now: www.ducks.org/DUPodcastSend feedback: DUPodcast@ducks.org

On today's ID the Future from the vault, Casey Luskin continues his conversation with host Eric Anderson about the myths surrounding human origins. Luskin rebuts the popular claim that the human and chimp genomes are 98-99% similar and therefore surely resulted from Darwinian common descent. He also throws shade in the argument that humans and chimps share junk DNA similarities. The problem? So-called "pseudogenes" are turning out to have functions. Listen in as Luskin unravels this popular myth, one thread of evidence at a time. Source

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

In this episode of The Road to Genome, Helen has two guests on the other side of the mic! Beth Evans and Nicola Young explain what Monogenic Diabetes is, and why it is so crucial (and tricky) to catch in pregnant people.Beth and Nicola show us the power of the right diagnosis at the right time, not only for patients, but their children and families too, right now and in the future.

Spend any time in the southern Appalachian Mountains and you are bound to cross paths with Galax urceolata. This wonderful little evergreen herb seems to be at home in a variety of habitats from forest streams to granite outcrops and everywhere in between. It is also culturally significant and even suffers from poaching in some areas. Despite its place in Appalachian ecology and history, Galax holds many mysteries, especially when it comes to its genome. Join me and Dr. Shelly Gaynor as we explore the polyploidy and evolution in Galax. This episode was produced in part by Rich, Shad, Maddie, Owen, Linda, Alana, Sigma, Max, Richard, Maia, Rens, David, Robert, Thomas, Valerie, Joan, Mohsin Kazmi Photography, Cathy, Simon, Nick, Paul, Charis, EJ, Laura, Sung, NOK, Stephen, Heidi, Kristin, Luke, Sea, Shannon, Thomas, Will, Jamie, Waverly, Brent, Tanner, Rick, Kazys, Dorothy, Katherine, Emily, Theo, Nichole, Paul, Karen, Randi, Caelan, Tom, Don, Susan, Corbin, Keena, Robin, Peter, Whitney, Kenned, Margaret, Daniel, Karen, David, Earl, Jocelyn, Gary, Krysta, Elizabeth, Southern California Carnivorous Plant Enthusiasts, Pattypollinators, Peter, Judson, Ella, Alex, Dan, Pamela, Peter, Andrea, Nathan, Karyn, Michelle, Jillian, Chellie, Linda, Laura, Miz Holly, Christie, Carlos, Paleo Fern, Levi, Sylvia, Lanny, Ben, Lily, Craig, Sarah, Lor, Monika, Brandon, Jeremy, Suzanne, Kristina, Christine, Silas, Michael, Aristia, Felicidad, Lauren, Danielle, Allie, Jeffrey, Amanda, Tommy, Marcel, C Leigh, Karma, Shelby, Christopher, Alvin, Arek, Chellie, Dani, Paul, Dani, Tara, Elly, Colleen, Natalie, Nathan, Ario, Laura, Cari, Margaret, Mary, Connor, Nathan, Jan, Jerome, Brian, Azomonas, Ellie, University Greens, Joseph, Melody, Patricia, Matthew, Garrett, John, Ashley, Cathrine, Melvin, OrangeJulian, Porter, Jules, Griff, Joan, Megan, Marabeth, Les, Ali, Southside Plants, Keiko, Robert, Bryce, Wilma, Amanda, Helen, Mikey, Michelle, German, Joerg, Cathy, Tate, Steve, Kae, Carole, Mr. Keith Santner, Lynn, Aaron, Sara, Kenned, Brett, Jocelyn, Ethan, Sheryl, Runaway Goldfish, Ryan, Chris, Alana, Rachel, Joanna, Lori, Paul, Griff, Matthew, Bobby, Vaibhav, Steven, Joseph, Brandon, Liam, Hall, Jared, Brandon, Christina, Carly, Kazys, Stephen, Katherine, Manny, doeg, Daniel, Tim, Philip, Tim, Lisa, Brodie, Bendix, Irene, holly, Sara, and Margie.

In this episode of the Epigenetics Podcast, we talked with Giacomo Cavalli from the Institute of Human Genetics in Montpellier about his work on critical aspects of epigenetic regulation, particularly the role of Polycomb proteins and chromatin architecture. We start the Interview by talking about Dr. Cavalli's work on Polycomb function in maintaining chromatin states and how it relates to gene regulation. He shares insights from his early lab experiences, where he aimed to understand the inheritance mechanisms of chromatin states through various models, including the FAB7 cellular memory module. The discussion uncovers how Polycomb proteins can silence gene expression and the complex interplay between different epigenetic factors that govern this process. Dr. Cavalli also addresses how he has investigated the recruitment mechanisms of Polycomb complexes, highlighting the roles of several DNA-binding proteins, including DSP-1 and GAGA factor, in this intricate regulatory landscape. He emphasizes the evolution of our understanding of Polycomb recruitment, illustrating the multifactorial nature of this biological puzzle. As the conversation progresses, we explore Dr. Cavalli's fascinating research into the three-dimensional organization of the genome. He explains his contributions to mapping chromosomal interactions within Drosophila and the distinctions observed when performing similar studies in mammalian systems. Key findings regarding topologically associated domains (TADs) and their association with gene expression are presented, alongside the implications for our understanding of gene regulation in development and disease.   References Déjardin, J., Rappailles, A., Cuvier, O., Grimaud, C., Decoville, M., Locker, D., & Cavalli, G. (2005). Recruitment of Drosophila Polycomb group proteins to chromatin by DSP1. Nature, 434(7032), 533–538. https://doi.org/10.1038/nature03386 Sexton, T., Yaffe, E., Kenigsberg, E., Bantignies, F., Leblanc, B., Hoichman, M., Parrinello, H., Tanay, A., & Cavalli, G. (2012). Three-dimensional folding and functional organization principles of the Drosophila genome. Cell, 148(3), 458–472. https://doi.org/10.1016/j.cell.2012.01.010 Bonev, B., Mendelson Cohen, N., Szabo, Q., Fritsch, L., Papadopoulos, G. L., Lubling, Y., Xu, X., Lv, X., Hugnot, J. P., Tanay, A., & Cavalli, G. (2017). Multiscale 3D Genome Rewiring during Mouse Neural Development. Cell, 171(3), 557–572.e24. https://doi.org/10.1016/j.cell.2017.09.043 Szabo, Q., Donjon, A., Jerković, I., Papadopoulos, G. L., Cheutin, T., Bonev, B., Nora, E. P., Bruneau, B. G., Bantignies, F., & Cavalli, G. (2020). Regulation of single-cell genome organization into TADs and chromatin nanodomains. Nature genetics, 52(11), 1151–1157. https://doi.org/10.1038/s41588-020-00716-8   Related Episodes BET Proteins and Their Role in Chromosome Folding and Compartmentalization (Kyle Eagen) Long-Range Transcriptional Control by 3D Chromosome Structure (Luca Giorgetti) Epigenetic Landscapes During Cancer (Luciano Di Croce)   Contact Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Dr. Stefan Dillinger on LinkedIn Active Motif on LinkedIn Active Motif on Bluesky Email: podcast@activemotif.com

Baby-making is more complicated than it might seem, and any couple struggling to conceive and achieve a successful pregnancy is faced with a confusing maze of fertility optimization measures.This is where whole genome personal genotyping can be very helpful. Your genes obviously have everything to do with fertility, and your genes are unique. Personal genotyping can illuminate what you might be doing wrong in the fertility optimization department. It empowers you and your partner to practice precision Biohacking by identifying the medicine, supplements, therapies, and lifestyle changes you need to bring a beautiful baby into the world.This deep-dive presentation will elucidate 17 problematic fertility genes you may have, how to find them, which conditions they are associated with, and give you a jumping-off point for addressing them...2:45 Important disclaimer: your genes don't have to be your destiny4:00 How to search your genome8:11 Single gene disorders10:18 On procrastination12:57 Polygenetic complexes17:22 MTHFR21:38 SLC19A122:04 DHFR23:25 MTR and MTT26:30 TCN27:00 PAI/SERPINE131:37 PEMT32:38 APEO34:18 FVL and F235:30 NOS37:05 GST/GPX42:04 PON43:20 VDR44:50 Male factor infertility51:40 Stress management hacks57:55 Folic Acid - The New Smoking?59:25 Niacin/Vitamin B31:00:30 Acupuncture1:04:50 Conclusion and inspirationRead: Decode Your Genome with Personal Genotyping for Precision Fertility Optimization

The outbreak of H5N9 avian influenza occurred at a California duck farm in November 2024. Also, new research pinpoints 298 parts of the genome associated with higher risk of bipolar disorder. This could lead to better treatments.Another Strain Of Bird Flu Discovered In CaliforniaThis week, the World Organization for Animal Health reported that it had been notified by the USDA that a November outbreak of highly pathogenic avian influenza on a California duck farm was caused by a strain not before seen in the United States: H5N9. The dominant bird flu strain circulating currently, H5N1, has led to massive culling of bird flocks, has infected dairy cattle, and has killed almost 500 people around the world since 2003. The US reported its first human death from bird flu earlier this month.Experts stressed that the new strain did not itself appear to be an immediate human threat. But the rise of a new strain is troubling and points to the risk of a viral phenomenon known as “reassortment,” in which different viruses mingled in a host can sometimes exchange bits of viral code, forming new strains.SciFri's Charles Bergquist joins Flora Lichtman to talk about H5N9 and other stories from the week in science, including a spacewalk that was meant to include a search for microbes on the outside of the International Space Station, a possible positive side effect of scratching an itch, and the discovery of 66 million-year-old fossilized vomit.Understanding Bipolar Disorder Through The GenomeBipolar disorder is one of the most common mental illnesses—it affects an estimated 40 million people worldwide, about 2.8% of the population. Bipolar disorder can cause extreme mood swings, and be debilitating without treatment.In an effort to untangle the mysteries of where bipolar disorder originates, researchers studied the genomes of more than 40,000 people with the condition. When comparing these genomes to those of people without bipolar disorder, the researchers were able to pinpoint 298 different parts of the genome associated with the mental illness. With this better understanding of the genome, better, more targeted treatments for bipolar disorder may be possible.Joining Flora to talk about this research is Dr. Niamh Mullins, assistant professor of psychiatric genomics at the Icahn School of Medicine at Mount Sinai in New York.Transcripts for each segment will be available after the show airs on sciencefriday.com. Subscribe to this podcast. Plus, to stay updated on all things science, sign up for Science Friday's newsletters.

******Support the channel****** Patreon: https://www.patreon.com/thedissenter PayPal: paypal.me/thedissenter PayPal Subscription 1 Dollar: https://tinyurl.com/yb3acuuy PayPal Subscription 3 Dollars: https://tinyurl.com/ybn6bg9l PayPal Subscription 5 Dollars: https://tinyurl.com/ycmr9gpz PayPal Subscription 10 Dollars: https://tinyurl.com/y9r3fc9m PayPal Subscription 20 Dollars: https://tinyurl.com/y95uvkao   ******Follow me on****** Website: https://www.thedissenter.net/ The Dissenter Goodreads list: https://shorturl.at/7BMoB Facebook: https://www.facebook.com/thedissenteryt/ Twitter: https://x.com/TheDissenterYT   This show is sponsored by Enlites, Learning & Development done differently. Check the website here: http://enlites.com/   Dr. David Henshall is Professor of Physiology and Medical Physics at the Royal College of Surgeons in Ireland. His laboratory is studying cell and molecular mechanisms of epilepsy. His research team combines cell and molecular biology techniques, data science and bioinformatics, pharmacology, neuroscience and behavior, imaging and histology, and employs a range of experimental and human models. He is the author of Fine-Tuning Life: A Guide to MicroRNAs, Your Genome's Master Regulators.   In this episode, we focus on Fine-Tuning Life. We start by covering some basics of DNA and RNA. We talk about microRNAs: how they were discovered and how we learn about them; how they evolved; how they are produced in cells; their functions and role in fine-tuning life; how they work; and their role in evolution and speciation. We then get specifically into how they work in human development, their role in brain physiology and brain cell structure, cognition and intelligence, and brain disease. Finally, we discuss a new picture of genetics coming from gene regulation and the role of microRNAs. -- A HUGE THANK YOU TO MY PATRONS/SUPPORTERS: PER HELGE LARSEN, JERRY MULLER, BERNARDO SEIXAS, ADAM KESSEL, MATTHEW WHITINGBIRD, ARNAUD WOLFF, TIM HOLLOSY, HENRIK AHLENIUS, FILIP FORS CONNOLLY, DAN DEMETRIOU, ROBERT WINDHAGER, RUI INACIO, ZOOP, MARCO NEVES, COLIN HOLBROOK, PHIL KAVANAGH, SAMUEL ANDREEFF, FRANCIS FORDE, TIAGO NUNES, FERGAL CUSSEN, HAL HERZOG, NUNO MACHADO, JONATHAN LEIBRANT, JOÃO LINHARES, STANTON T, SAMUEL CORREA, ERIK HAINES, MARK SMITH, JOÃO EIRA, TOM HUMMEL, SARDUS FRANCE, DAVID SLOAN WILSON, YACILA DEZA-ARAUJO, ROMAIN ROCH, DIEGO LONDOÑO CORREA, YANICK PUNTER, CHARLOTTE BLEASE, NICOLE BARBARO, ADAM HUNT, PAWEL OSTASZEWSKI, NELLEKE BAK, GUY MADISON, GARY G HELLMANN, SAIMA AFZAL, ADRIAN JAEGGI, PAULO TOLENTINO, JOÃO BARBOSA, JULIAN PRICE, EDWARD HALL, HEDIN BRØNNER, DOUGLAS FRY, FRANCA BORTOLOTTI, GABRIEL PONS CORTÈS, URSULA LITZCKE, SCOTT, ZACHARY FISH, TIM DUFFY, SUNNY SMITH, JON WISMAN, WILLIAM BUCKNER, PAUL-GEORGE ARNAUD, LUKE GLOWACKI, GEORGIOS THEOPHANOUS, CHRIS WILLIAMSON, PETER WOLOSZYN, DAVID WILLIAMS, DIOGO COSTA, ALEX CHAU, AMAURI MARTÍNEZ, CORALIE CHEVALLIER, BANGALORE ATHEISTS, LARRY D. LEE JR., OLD HERRINGBONE, MICHAEL BAILEY, DAN SPERBER, ROBERT GRESSIS, IGOR N, JEFF MCMAHAN, JAKE ZUEHL, BARNABAS RADICS, MARK CAMPBELL, TOMAS DAUBNER, LUKE NISSEN, KIMBERLY JOHNSON, JESSICA NOWICKI, LINDA BRANDIN, NIKLAS CARLSSON, GEORGE CHORIATIS, VALENTIN STEINMANN, PER KRAULIS, ALEXANDER HUBBARD, BR, MASOUD ALIMOHAMMADI, JONAS HERTNER, URSULA GOODENOUGH, DAVID PINSOF, SEAN NELSON, MIKE LAVIGNE, JOS KNECHT, ERIK ENGMAN, LUCY, MANVIR SINGH, PETRA WEIMANN, CAROLA FEEST, STARRY, MAURO JÚNIOR, 航 豊川, TONY BARRETT, BENJAMIN GELBART, AND NIKOLAI VISHNEVSKY! A SPECIAL THANKS TO MY PRODUCERS, YZAR WEHBE, JIM FRANK, ŁUKASZ STAFINIAK, TOM VANEGDOM, BERNARD HUGUENEY, CURTIS DIXON, BENEDIKT MUELLER, THOMAS TRUMBLE, KATHRINE AND PATRICK TOBIN, JONCARLO MONTENEGRO, AL NICK ORTIZ, NICK GOLDEN, CHRISTINE GLASS, AND KOMOMO! AND TO MY EXECUTIVE PRODUCERS, MATTHEW LAVENDER, SERGIU CODREANU, BOGDAN KANIVETS, ROSEY, AND GREGORY HASTINGS!

In this episode of the Epigenetics Podcast, we talked with Ferdinand von Meyenn from ETH Zürich about his work on the interplay of nutrition, metabolic pathways, and epigenetic regulation. To start Dr. Meyenn recounts his pivotal research on DNA methylation in naive embryonic stem cells during his time with Wolf Reick. He explains the dynamics of global demethylation in naive stem cells, revealing the key enzymes involved and the unexpected findings surrounding UHF1—its role in maintaining DNA methylation levels and influencing the methylation landscape during early embryonic development. Dr. Meyenn then shares his perspective on the scientific transition to establishing his own lab at ETH. He reflects on his ambitions to merge the fields of metabolism and epigenetics, which is a recurring theme throughout his research. By investigating the interplay between metabolic changes and epigenetic regulation, he aims to uncover how environmental factors affect cellular dynamics across various tissues. This leads to a discussion of his recent findings on histone lactylation and its implications in cellular metabolism, as well as the intricacies of epigenetic imprinting in stem cell biology. Last but not least we touch upon Dr. Meyenn's most recent study, published in Nature, investigating the epigenetic effects of obesity. He provides a detailed overview of how adipose tissue undergoes transcriptional and epigenetic rearrangements during weight fluctuations. The conversation highlights the notion of epigenetic memory in adipocytes, showing how obesity is not just a temporary state but leaves lasting cellular changes that can predispose individuals to future weight regain after dieting. This exploration opens avenues for potential therapeutic interventions aimed at reversing adverse epigenetic modifications.   References von Meyenn, F., Iurlaro, M., Habibi, E., Liu, N. Q., Salehzadeh-Yazdi, A., Santos, F., Petrini, E., Milagre, I., Yu, M., Xie, Z., Kroeze, L. I., Nesterova, T. B., Jansen, J. H., Xie, H., He, C., Reik, W., & Stunnenberg, H. G. (2016). Impairment of DNA Methylation Maintenance Is the Main Cause of Global Demethylation in Naive Embryonic Stem Cells. Molecular cell, 62(6), 848–861. https://doi.org/10.1016/j.molcel.2016.04.025 Galle, E., Wong, C. W., Ghosh, A., Desgeorges, T., Melrose, K., Hinte, L. C., Castellano-Castillo, D., Engl, M., de Sousa, J. A., Ruiz-Ojeda, F. J., De Bock, K., Ruiz, J. R., & von Meyenn, F. (2022). H3K18 lactylation marks tissue-specific active enhancers. Genome biology, 23(1), 207. https://doi.org/10.1186/s13059-022-02775-y Agostinho de Sousa, J., Wong, C. W., Dunkel, I., Owens, T., Voigt, P., Hodgson, A., Baker, D., Schulz, E. G., Reik, W., Smith, A., Rostovskaya, M., & von Meyenn, F. (2023). Epigenetic dynamics during capacitation of naïve human pluripotent stem cells. Science advances, 9(39), eadg1936. https://doi.org/10.1126/sciadv.adg1936 Bonder, M. J., Clark, S. J., Krueger, F., Luo, S., Agostinho de Sousa, J., Hashtroud, A. M., Stubbs, T. M., Stark, A. K., Rulands, S., Stegle, O., Reik, W., & von Meyenn, F. (2024). scEpiAge: an age predictor highlighting single-cell ageing heterogeneity in mouse blood. Nature communications, 15(1), 7567. https://doi.org/10.1038/s41467-024-51833-5 Hinte, L. C., Castellano-Castillo, D., Ghosh, A., Melrose, K., Gasser, E., Noé, F., Massier, L., Dong, H., Sun, W., Hoffmann, A., Wolfrum, C., Rydén, M., Mejhert, N., Blüher, M., & von Meyenn, F. (2024). Adipose tissue retains an epigenetic memory of obesity after weight loss. Nature, 636(8042), 457–465. https://doi.org/10.1038/s41586-024-08165-7   Related Episodes Nutriepigenetics: The Effects of Diet on Behavior (Monica Dus) Epigenetic and Metabolic Regulation of Early Development (Jan Żylicz) Effects of Environmental Cues on the Epigenome and Longevity (Paul Shiels)   Contact Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Dr. Stefan Dillinger on LinkedIn Active Motif on LinkedIn Active Motif on Bluesky Email: podcast@activemotif.com

First, we talk to The Indian Express' Nikhil Ghanekar about the relocation of 337 metric tonnes of hazardous waste from Bhopal's Union Carbide factory that was generated during pesticide production between 1969 and 1984 and was dumped on the premises.Next, The Indian Express' Anonna Dutt speaks to us about the second phase of the Genome India project, which was approved by the government in 2020 with the aim of creating a comprehensive catalogue of genetic variations found in the Indian population. (13:28)Finally, we talk about Prime Minister Narendra Modi commissioning three advanced Naval combatants INS Surat, INS Nilgiri and INS Vaghsheer. (22:41)Produced and hosted by Niharika NandaEdited and mixed by Suresh Pawar

After helping to sequence the human genome more than twenty years ago, biochemist Craig Venter seemed to recede from the public eye. But he hadn't retired. He had gone to sea and taken his revolutionary sequencing tools with him. We chatted with him about his multi-year voyage aboard the research vessel Sorcerer II, its parallels to Darwin's voyage, and the surprising discoveries his team made about the sheer number and diversity of marine microbes and their roles in ocean ecosystems. Guests: Craig Venter - Genomicist, biochemist, founder of the J. Craig Venter Institute, and co-author of “The Voyage of Sorcerer II: The Expedition that Unlocked the Secrets of the Ocean's Microbiome.” Jeff Hoffman - Lab manager at the J. Craig Venter Institute and expedition scientist on the Sorcerer II expedition. Featuring music by Dewey Dellay and Jun Miyake Originally aired December 18, 2023 Big Picture Science is part of the Airwave Media podcast network.  Please contact advertising@airwavemedia.com to inquire about advertising on Big Picture Science. You can get early access to ad-free versions of every episode by joining us on Patreon. Thanks for your support! Learn more about your ad choices. Visit megaphone.fm/adchoices

Ever wondered if we could read the ultimate book of life? Genome sequencing makes it possible!

After helping to sequence the human genome more than twenty years ago, biochemist Craig Venter seemed to recede from the public eye. But he hadn't retired. He had gone to sea and taken his revolutionary sequencing tools with him. We chatted with him about his multi-year voyage aboard the research vessel Sorcerer II, its parallels to Darwin's voyage, and the surprising discoveries his team made about the sheer number and diversity of marine microbes and their roles in ocean ecosystems. Guests: Craig Venter - Genomicist, biochemist, founder of the J. Craig Venter Institute, and co-author of “The Voyage of Sorcerer II: The Expedition that Unlocked the Secrets of the Ocean's Microbiome.” Jeff Hoffman - Lab manager at the J. Craig Venter Institute and expedition scientist on the Sorcerer II expedition. Featuring music by Dewey Dellay and Jun Miyake Originally aired December 18, 2023 Big Picture Science is part of the Airwave Media podcast network.  Please contact advertising@airwavemedia.com to inquire about advertising on Big Picture Science. You can get early access to ad-free versions of every episode by joining us on Patreon. Thanks for your support! Learn more about your ad choices. Visit megaphone.fm/adchoices

#gtalksradio present: DJ BAADAAM is the manifesto of Pikai's skateboarding ethos extended to the DJ sphere. He is one of the few boys in Shanghai who is proficient in both skateboarding and Djing. Influenced by Shelter cultural early on, he made his debut at Genome and Do hits parties. He brought his expertise in Grime, Drill, Footwork, and British Dance music to the Gully Riddim team, continuing to spread these genres. As he gradually embodies his vision, BAADAAM can easily let the crowd sense his unstoppable passion and energy through selected sounds. DJ BAADAAM是Pikai把滑板上的专注与视野延续到DJ台上的代号。也是沪上少有两样都文武精通的实在大男孩。早期被Shelter的文化内核深深影响，在Genome和Do hits派对上初出茅庐备受好评之后，他随即加入Gully Riddim团队继续传播着最硬的Grime&Drill说唱和soulful的footwork&英式舞曲。现在具备日渐成熟理念的BAADAAM可以让你轻易在他的现场感受到那股无可阻挡的热情与能量。 Tracklist: Ytem, Escha – Chase PAYNOMINDTOUS – 26 Amazon Prim & political noize – Windows View Softworld – dadaduu XXYYXX – Red ORGAN TAPES & YOUNG THUG – DI QUI CHAINS CHO Nosaj Thing – Condition (feat. Toro y Moi) Pholo – Wedding Stripe sombra – butterfly bally Traxman – Lifeeeee Is For Ever DJ Manny – What You Need? Kelela – Sorbet Hoshina Anniversary – Iwa Utsi Nami 7038634357 – No Hate Is a Cold Star dj lostboi – u can't see me Murlo – Pearl Awake – Olorun LCD Soundsystem – Someone Great Aphex Twin – Xtal Cashmere Cat – Kiss Kiss OT YYY – Li Bu Kai REDMIX @gtalksradio is a monthly interview show that centers young emerging creatives around the globe to share their stories to inspire and connect with like minded people. In every episode, the creators will share their most played recent tunes in between the conversations. Artist IG: https://www.instagram.com/firkatttt/ Radio IG: www.instagram.com/gtalksradio/ Dublab: www.dublab.com/shows/gtalks-radio

In this episode of the Kingdom Builders podcast, the hosts engage in a deep discussion about healing, exploring the concepts of changing one's genome through speaking and spiritual deliverance. They share personal experiences and insights on various healing methods, the significance of understanding DNA and family patterns, and the importance of being led by the Lord in the healing process. The conversation emphasizes active participation in one's healing journey and the power of visualization in achieving health. The episode concludes with encouragement for listeners to embrace their personal journeys and seek a deeper relationship with the Lord.

Welcome to Episode 237 of Autism Parenting Secrets. This week, we're joined by the esteemed Dr. Richard Boles. With an impressive background in pediatrics and genetics, including training at UCLA and Yale, Dr. Boles brings a wealth of knowledge on neurodevelopmental and functional disorders. He collaborates with Neuroneeds to create specialized supplements for autism, ADHD, and epilepsy, and today, he shares why whole genome sequencing is crucial for effective treatments.He explains his comprehensive diagnostic approach, the importance of understanding genetic and environmental factors, and how specific genetic variants can pave the way for targeted therapies. Dr. Boles shares the supplements he designed to improve biochemical functions, and he elaborates on the significance of mitochondrial energy metabolism, cation transport, and neurotransmission in autism care.This episode promises to be packed with valuable insights for parents navigating the complexities of autism, so stay tuned as we explore the cutting-edge genetic diagnostics and personalized treatment pathways with Dr. Richard Boles.The secret this week is... Sequence The WHOLE GenomeYou'll Discover:How Whole Genome Sequencing Works (5:41)Why Telehealth Can Be Better Than In-Person Visits (8:37)The Importance of Mitochondrial Function (19:45)Who You Want To Focus on Pathways (24:57)Specific Supplement Options (27:43)Why De Novo Mutations Are Incredibly Important Clues (34:25)About Our Guest:Dr. Boles is a Medical Geneticist with expertise in mitochondrial disease, other metabolic disorders, and channelopathies. He completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. Dr. Boles' clinical and research focus has been on the genetics of common, chronic neurological and functional disorders, including autism, ADHD, ME/CFS, pain, and cyclic vomiting. He has about 100 peer-reviewed published papers. After 20 years as a geneticist at Children's Hospital Los Angeles and faculty at USC, Dr. Boles was the Medical Director of a DNA sequencing laboratory for 6 years. He is currently in a virtual (Zoom) private practice, where he applies whole genome (DNA) sequencing to determine the cause of disease in his patients. Dr. Boles is also the Chief Medical & Scientific Officer of NeuroNeeds, a company that produces natural nutritional products to assist people with neurological conditions, including the conditions listed above.http://molecularmitomd.com/References in The Episode:NeuroNeedsAdditional Resources:Unlock the power of personalized 1-on-1 support; visit allinparentcoaching.com/intensiveTake The Quiz: What's YOUR Top Autism Parenting Blindspot?To learn more about Cass & Len, visit us at www.autismparentingsecrets.comBe sure to follow Cass & Len on InstagramIf you enjoyed this episode, share it with your friends.

For more info visit: https://journ.tv — Holding back from life, holding the Truth is the strategy of survival of the Personality. Because information brings the capability to succeed in action—these are the types of genetic mutations that have prevailed in the evolution of our bio-machines for millions of lifetimes; however, we are reaching a point in which the Individual (point of Attention of God) is reclaiming command of the direction of the evolution of the bio-machine/personality and is now manifesting a depolarized higher-octave spiral revolution.

In this episode, we're joined by Prof. Jef Boeke, a pioneer in synthetic genomics. Jef shares his journey from uncovering retrotransposons in yeast to leading the ambitious Sc2.0 project, an international collaboration to design and build the world's first fully synthetic Saccharomyces cerevisiae genome. Along the way, we delve into the groundbreaking science, the collaborative spirit of synthetic biology, and what it takes to push the boundaries of genomics.For more information about EBRC, visit our website at ebrc.org. If you are interested in getting involved with the EBRC Student and Postdoc Association, fill out a membership application for graduate students and postdocs or for undergraduates and join today!Episode transcripts are the unedited output from Whisper and likely contain errors.

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

In this episode of Genetics in Your World, Early Career Scientist Multimedia Subcommittee member Tammy Lee has a conversation with Dr. Jordan Brown, a recent alumnus from the University of Chicago, about factors involved in gene silencing mediated by small RNAs. Read Dr. Brown's paper titled, “Sensitized piRNA reporter identifies multiple RNA processing factors involved in piRNA-mediated gene silencing,” published in the August 2023 issue of GENETICS: ​​https://doi.org/10.1093/genetics/iyad095. Music: Loopster Kevin MacLeod (incompetech.com). Licensed under Creative Commons: By Attribution 3.0 License, http://creativecommons.org/licenses/by/3.0/ Hosted on Acast. See acast.com/privacy for more information.

Show #2302 Show Notes: Psalm 11: https://www.biblegateway.com/passage/?search=Psalm%2011&version=KJV ‘Occupy’: https://webstersdictionary1828.com/Dictionary/occupy Psalm 40:7-11 https://www.biblegateway.com/passage/?search=Psalm%2040%3A7-11&version=KJV Pfizer’s Vax is Genetic Modification: https://www.2ndsmartestguyintheworld.com/p/catastrophic-bombshell-first-ever Chief Attorney for FDA Admitted there was no reason to discourage Ivermectin: https://rumble.com/v5y3ee5-chief-attorney-for-fda-admitted-there-was-no-reason-to-discourage-people-fr.html  Kari Lake Will […]

Mistletoe has long been associated with fertility, and even today, its presence hanging from the ceiling can prompt a few blushes. But, did you know, mistletoe is more than something beneath which to kiss at Christmas? It is actually a parasite, and has some rather peculiar biology behind it. We chat to mistletoe expert Ollie Spacey about what makes it so special, where you can spot it and - importantly - how you can get involved with his research through MistleGO!

The next thriller audio drama from Voyage Media has arrived. An FDA and FBI agent team up to solve a string of murders occurring around the country, targeting victims seemingly at random through poisoned water... only to discover the connection that unveils the killer. If you enjoy movies like Zodiac, and TV series like CSI, take a listen to The Genome Killer. Available anywhere you listen to podcasts. Learn more about your ad choices. Visit megaphone.fm/adchoices

The next thriller audio drama from Voyage Media has arrived. An FDA and FBI agent team up to solve a string of murders occurring around the country, targeting victims seemingly at random through poisoned water... only to discover the connection that unveils the killer. If you enjoy movies like Zodiac, and TV series like CSI, take a listen to The Genome Killer. Available anywhere you listen to podcasts. Learn more about your ad choices. Visit megaphone.fm/adchoices

The next thriller audio drama from Voyage Media has arrived. An FDA and FBI agent team up to solve a string of murders occurring around the country, targeting victims seemingly at random through poisoned water... only to discover the connection that unveils the killer. If you enjoy movies like Zodiac, and TV series like CSI, take a listen to The Genome Killer. Available anywhere you listen to podcasts. Learn more about your ad choices. Visit megaphone.fm/adchoices

A discussion with Matt Ridley on his book Viral: The Search for the Origin of COVID-19, written with Alina Chan, touches mostly on how the lab leak hypothesis is now an officially accepted explanation but how the mainstream media and academia are slow to admit it. The orthodoxy began with the excuse that they wanted to protect science, but they have done, and continue to do, the opposite.  Matt Ridley is an eminent science journalist. Writer of books "The Red Queen"; "Genome"; "How Innovation Works"; "The Evolution of Everything"; "The Origin of Virtue"; "Nature via Nature" and his latest "Viral: The Search for the Origins of Covid-19".  All are available on Amazon. His personal blog is here  Here, he also discusses the importance of "citizen journalists" and scientists in uncovering the suppression of evidence supporting the lab leak hypothesis of COVID-19.  Follow Matt on X @Mattwridley       

In this program, Dr. Jeffrey Gordon, Director of the Edison Family Center for Genome Sciences & Systems Biology at Washington University and the Scripps Institution of Oceanography's 2024 recipient of the Nierenberg Prize for Science in the Public Interest, discusses his research into the microbiome. Gordon is credited with founding the field of gut microbiome research. His transformative studies have demonstrated that human health and disease are shaped by the communities of microbes that live in the human gut. His body of work has opened up the vast new therapeutic potential for the microbiome, exemplified by his identification of ways to repair the gut microbiomes of children with malnutrition and restore their healthy growth. Series: "Science in the Public Interest" [Health and Medicine] [Show ID: 40154]

In this program, Dr. Jeffrey Gordon, Director of the Edison Family Center for Genome Sciences & Systems Biology at Washington University and the Scripps Institution of Oceanography's 2024 recipient of the Nierenberg Prize for Science in the Public Interest, discusses his research into the microbiome. Gordon is credited with founding the field of gut microbiome research. His transformative studies have demonstrated that human health and disease are shaped by the communities of microbes that live in the human gut. His body of work has opened up the vast new therapeutic potential for the microbiome, exemplified by his identification of ways to repair the gut microbiomes of children with malnutrition and restore their healthy growth. Series: "Science in the Public Interest" [Health and Medicine] [Show ID: 40154]

In this program, Dr. Jeffrey Gordon, Director of the Edison Family Center for Genome Sciences & Systems Biology at Washington University and the Scripps Institution of Oceanography's 2024 recipient of the Nierenberg Prize for Science in the Public Interest, discusses his research into the microbiome. Gordon is credited with founding the field of gut microbiome research. His transformative studies have demonstrated that human health and disease are shaped by the communities of microbes that live in the human gut. His body of work has opened up the vast new therapeutic potential for the microbiome, exemplified by his identification of ways to repair the gut microbiomes of children with malnutrition and restore their healthy growth. Series: "Science in the Public Interest" [Health and Medicine] [Show ID: 40154]

In this program, Dr. Jeffrey Gordon, Director of the Edison Family Center for Genome Sciences & Systems Biology at Washington University and the Scripps Institution of Oceanography's 2024 recipient of the Nierenberg Prize for Science in the Public Interest, discusses his research into the microbiome. Gordon is credited with founding the field of gut microbiome research. His transformative studies have demonstrated that human health and disease are shaped by the communities of microbes that live in the human gut. His body of work has opened up the vast new therapeutic potential for the microbiome, exemplified by his identification of ways to repair the gut microbiomes of children with malnutrition and restore their healthy growth. Series: "Science in the Public Interest" [Health and Medicine] [Show ID: 40154]

* List of Discoveries Squeezing Evolution: Did you know that dinosaurs ate rice before rice evolved? That turtle shells existed forty million years before turtle shells began evolving? That insects evolved tongues for eating from flowers 70 million years before flowers evolved? And that birds appeared before birds evolved? The fossil record is a wonderful thing. And more recently, only a 40,000-year squeeze, Neanderthal had blood types A, B, and O, shocking evolutionists but expected to us here at Real Science Radio! Sit back and get ready to enjoy another instant classic, today's RSR "list show" on Evolution's Big Squeeze! Our other popular list shows include: - scientists doubting Darwin - evidence against whale evolution - problems with 'the river carved the canyon' - carbon 14 everywhere it shouldn't be - dinosaur still-soft biological tissue - solar system formation problems - evidence against the big bang - evidence for the global flood - genomes that just don't fit - and our list of not so old things! (See also rsr.org/sq2 and rsr.org/sq3!) * Evolution's Big Squeeze: Many discoveries squeeze the Darwinian theory's timeframe and of course without a workable timeframe there is no workable theory. Examples, with their alleged (and falsified) old-earth timeframes, include: - Complex skeletons existed 9 million years before they were thought to have evolved, before even the "Cambrian explosion".- Butterflies existed 10 million years before they were thought to have evolved. - Parrots existed "much earlier than had been thought", in fact, 25 million years before they were thought to have evolved. - Cephalopod fossils (squids, cuttlefish, etc.) appear 35 million years before they were able to propagate. - Turtle shells 40 million years before turtle shells began evolving - Trees began evolving 45 million years before they were thought to evolve - Spores appearing 50 million years before the plants that made them (not unlike footprints systematically appearing "millions of years before" the creatures that made them, as affirmed by Dr. Marcus Ross, associate professor of geology). - Sponges existed 60 million years before they were believed to have evolved. - Dinosaurs ate rice before it evolved Example - Insect proboscis (tongue) in moths and butterflies 70 million years before previously believed has them evolving before flowers. - Arthropod brains fully developed with central nervous system running to eyes and appendages just like modern arthropods 90 million years earlier than previously known (prior to 2021, now, allegedly 310mya) - 100 million years ago and already a bird - Fossil pollen pushes back plant evolution 100 million years. - Mammalian hair allegedly 100-million-years-old show that, "the morphology of hair cuticula may have remained unchanged throughout most of mammalian evolution", regarding the overlapping cells that lock the hair shaft into its follicle. - Piranha-like flesh-eating teeth (and bitten prey) found pushing back such fish 125 million years earlier than previously claimed   - Shocking organic molecules in "200 million-years-old leaves" from ginkgoes and conifers show unexpected stasis. - Plant genetic sophistication pushed back 200 million years. - Jellyfish fossils (Medusoid Problematica :) 200 million years earlier than expected; here from 500My ago. - Green seaweed 200 million years earlier than expected, pushed back now to a billion years ago!  - The acanthodii fish had color vision 300 million years ago, but then, and wait, Cheiracanthus fish allegedly 388 million years ago already had color vision. - Color vision (for which there is no Darwinian evolutionary small-step to be had, from monochromatic), existed "300 million years ago" in fish, and these allegedly "120-million-year-old" bird's rod and cone fossils stun researchers :) - 400-million-year-old Murrindalaspis placoderm fish "eye muscle attachment, the eyestalk attachment and openings for the optic nerve, and arteries and veins supplying the eyeball" The paper's author writes, "Of course, we would not expect the preservation of ancient structures made entirely of soft tissues (e.g. rods and cone cells in the retina...)." So, check this next item... :) - And... no vertebrates in the Cambrian? Well, from the journal Nature in 2014, a "Lower-Middle Cambrian... primitive fish displays unambiguous vertebrate features: a notochord, a pair of prominent camera-type eyes, paired nasal sacs, possible cranium and arcualia, W-shaped myomeres, and a post-anal tail" Primitive? - Fast-growing juvenile bone tissue, thought to appear in the Cretaceous, has been pushed back 100 million years: "This pushes the origin of fibrolamellar bone in Sauropterygia back from the Cretaceous to the early Middle Triassic..."- Trilobites "advanced" (not the predicted primitive) digestion "525 million" years ago - And there's this, a "530 million year old" fish, "50 million years before the current estimate of when fish evolved" - Mycobacterium tuberculosis 100,000 yr-old MRCA (most recent common ancestor) now 245 million- Fungus long claimed to originate 500M years ago, now found at allegedly 950 Mya (and still biological "the distant past... may have been much more 'modern' than we thought." :) - A rock contained pollen a billion years before plants evolved, according to a 2007 paper describing "remarkably preserved" fossil spores in the French Alps that had undergone high-grade metamorphism - 2.5 billion year old cyanobacteria fossils (made of organic material found in a stromatolite) appear about "200 million years before the [supposed] Great Oxidation Event". - 2.7 billion year old eukaryotes (cells with a nucleus) existed (allegedly) 1 billion years before expected - 3.5 billion year "cell division evidently identical to that of living filamentous prokaryotes." - And even older cyanobacteria! At 220 million years earlier than thought, per Nature's 3.7 billion year old dating of stromatolites! - The universe and life itself (in 2019 with the universe dated a billion, now, no, wait, two billion!, years younger than previously thought, that's not only squeezing biological but also astronomical evolution, with the overall story getting really tight) - Mantis shrimp, with its rudimentary color but advanced UV vision, is allegedly ancient. - Hadrosaur teeth, all 1400 of them, were "more complex than those of cows, horses, and other well-known modern grazers." Professor stunned by the find! (RSR predicts that, by 2030 just to put an end date on it, more fossils will be found from the geologic column that will be more "advanced" as compared to living organisms, just like this hadrosaur and like the allegedly 100M year old hagfish  fossil having more slime glands than living specimens.)  - Trace fossils "exquisitely preserved" of mobile organisms (motility) dated at 2.1 billion years ago, a full 1.5 billion earlier than previously believed - Various multicellular organisms allegedly 2.1 billion years old, show multicellularity 1.5 billion years sooner than long believed   - Pre-sauropod 26,000-pound dinosaur "shows us that even as far back as 200 million years ago, these animals had already become the largest vertebrates to ever walk the Earth." - The Evo-devo squeeze, i.e., evolutionary developmental biology, as with rsr.org/evo-devo-undermining-darwinism. - Extinct Siberian one-horned rhinos coexisted with mankind. - Whale "evolution" is being crushed in the industry-wide "big squeeze". First, geneticist claims whales evolved from hippos but paleontologists say hippos evolved tens of millions of years too late! And what's worse than that is that fossil finds continue to compress the time available for whale evolution. To not violate its own plot, the Darwinist story doesn't start animals evolving back into the sea until the cast includes land animals suitable to undertake the legendary journey. The recent excavation of whale fossils on an island of the Antarctic Peninsula further compresses the already absurdly fast 10 million years to allegedly evolve from the land back to the sea, down to as little as one million years. BioOne in 2016 reported a fossil that is "among the oldest occurrences of basilosaurids worldwide, indicating a rapid radiation and dispersal of this group since at least the early middle Eocene." By this assessment, various techniques produced various published dates. (See the evidence that falsifies the canonical whale evolution story at rsr.org/whales.) * Ancient Hierarchical Insect Society: "Thanks to some well-preserved remains, researchers now believe arthropod social structures have been around longer than anyone ever imagined. The encased specimens of ants and termites recently studied date back [allegedly] 100 million years." Also from the video about "the bubonic plague", the "disease is well known as a Middle Ages mass killer... Traces of very similar bacteria were found on [an allegedly] 20-million-year-old flea trapped in amber." And regarding "Caribbean lizards... Even though they are [allegedly] 20 million years old, the reptiles inside the golden stones were not found to differ from their contemporary counterparts in any significant way. Scientists attribute the rarity [Ha! A rarity or the rule? Check out rsr.org/stasis.] to stable ecological surroundings." * Squeezing and Rewriting Human History: Some squeezing simply makes aspects of the Darwinian story harder to maintain while other squeezing contradicts fundamental claims. So consider the following discoveries, most of which came from about a 12-month period beginning in 2017 which squeeze (and some even falsify) the Out-of-Africa model: - find two teeth and rewrite human history with allegedly 9.7 million-year-old teeth found in northern Europe (and they're like Lucy, but "three times older") - date blue eyes, when humans first sported them, to as recently as 6,000 years ago   - get mummy DNA and rewrite human history with a thousand years of ancient Egyptian mummy DNA contradicting Out-of-Africa and demonstrating Out-of-Babel - find a few footprints and rewrite human history with allegedly 5.7 million-year-old human footprints in Crete - re-date an old skull and rewrite human history with a very human skull dated at 325,000 years old and redated in the Journal of Physical Anthropology at about 260,000 years old and described in the UK's Independent, "A skull found in China [40 years ago] could re-write our entire understanding of human evolution." - date the oldest language in India, Dravidian, with 80 derivatives spoken by 214 million people, which appeared on the subcontinent only about 4,500 years ago, which means that there is no evidence for human language for nearly 99% of the time that humans were living in Asia. (Ha! See rsr.org/origin-of-language for the correct explanation.) - sequence a baby's genome and rewrite human history with a 6-week old girl buried in Alaska allegedly 11,500 years ago challenging the established history of the New World. (The family buried this baby girl just beneath their home like the practice in ancient Mesopotamia, the Hebrews who sojourned in Egypt, and in Çatalhöyük in southern Turkey, one of the world's most ancient settlements.) - or was that 130,000? years ago as the journal Nature rewrites human history with a wild date for New World site - and find a jawbone and rewrite human history with a modern looking yet allegedly 180,000-year-old jawbone from Israel which "may rewrite the early migration story of our species" by about 100,000 years, per the journal Science - re-date a primate and lose yet another "missing link" between "Lucy" and humans, as Homo naledi sheds a couple million years off its age and drops from supposedly two million years old to (still allegedly) about 250,000 years old, far too "young" to be the allegedly missing link - re-analysis of the "best candidate" for the most recent ancestor to human beings, Australopithecus sediba, turns out to be a juvenile Lucy-like ape, as Science magazine reports work presented at the American Association of Physical Anthropologists 2017 annual meeting - find skulls in Morocco and "rewrite human history" admits the journal Nature, falsifying also the "East Africa" part of the canonical story - and from the You Can't Make This Stuff Up file, NPR reports in April 2019, Ancient Bones And Teeth Found In A Philippine Cave May Rewrite Human History. :) - Meanwhile, whereas every new discovery requires the materialists to rewrite human history, no one has had to rewrite Genesis, not even once. Yet, "We're not claiming that the Bible is a science textbook. Not at all. For the textbooks have to be rewritten all the time!"  - And even this from Science: "humans mastered the art of training and controlling dogs thousands of years earlier than previously thought."- RSR's Enyart commented on the Smithsonian's 2019 article on ancient DNA possibly deconstructing old myths...  This Smithsonian article about an ancient DNA paper in Science Advances, or actually, about the misuse of such papers, was itself a misuse. The published research, Ancient DNA sheds light on the genetic origins of early Iron Age Philistines, confirmed Amos 9:7 by documenting the European origin of the biblical Philistines who came from the island of Caphtor/Crete. The mainstream media completely obscured this astounding aspect of the study but the Smithsonian actually stood the paper on its head. [See also rsr.org/archaeology.]* Also Squeezing Darwin's Theory: - Evolution happens so slowly that we can't see it, yet - it happens so fast that millions of mutations get fixed in a blink of geologic time AND: - Observing a million species annually should show us a million years of evolution, but it doesn't, yet - evolution happens so fast that the billions of "intermediary" fossils are missing AND: - Waiting for helpful random mutations to show up explains the slowness of evolution, yet - adaption to changing environments is often immediate, as with Darwin's finches Finches Adapt in 17 Years, Not 2.3 Million: Charles Darwin's finches are claimed to have taken 2,300,000 years to diversify from an initial species blown onto the Galapagos Islands. Yet individuals from a single finch species on a U.S. Bird Reservation in the Pacific were introduced to a group of small islands 300 miles away and in at most 17 years, like Darwin's finches, they had diversified their beaks, related muscles, and behavior to fill various ecological niches. So Darwin's finches could diversify in just 17 years, and after 2.3 million more years, what had they evolved into? Finches! Hear this also at rsr.org/lee-spetner and see Jean Lightner's review of the Grants' 40 Years. AND: - Fossils of modern organisms are found "earlier" and "earlier" in the geologic column, and - the "oldest" organisms are increasingly found to have anatomical, proteinaceous, prokaryotic, and eukaryotic sophistication and similarity to "modern" organisms AND: - Small populations are in danger of extinction (yet they're needed to fix mutations), whereas - large populations make it impossible for a mutation to become standard AND: - Mutations that express changes too late in an organism's development can't effect its fundamental body plan, and - mutations expressed too early in an organism's development are fatal (hence among the Enyart sayings, "Like evolving a vital organ, most major hurdles for evolutionary theory are extinction-level events.") AND: - To evolve flight, you'd get bad legs - long before you'd get good wings AND: - Most major evolutionary hurdles appear to be extinction-level events- yet somehow even *vital* organs evolve (for many species, that includes reproductive organs, skin, brain, heart, circulatory system, kidney, liver, pancreas, stomach, small intestines, large intestines, lungs -- which are only a part of the complex respiration system) AND: - Natural selection of randomly taller, swifter, etc., fish, mammals, etc. explains evolution yet - development of microscopic molecular machines, feedback mechanisms, etc., which power biology would be oblivous to what's happening in Darwin's macro environment of the entire organism AND: - Neo-Darwinism suggests genetic mutation as the engine of evolution yet - the there is not even a hypothesis for modifying the vast non-genetic information in every living cell including the sugar code, electrical code, the spatial (geometric) code, and the epigenetic code AND: - Constant appeals to "convergent" evolution (repeatedly arising vision, echolocation, warm-bloodedness, etc.) - undermine most Darwinian anatomical classification especially those based on trivialities like odd or even-toed ungulates, etc. AND: - Claims that given a single species arising by abiogenesis, then - Darwinism can explain the diversification of life, ignores the science of ecology and the (often redundant) biological services that species rely upon AND: - humans' vastly superior intelligence indicates, as bragged about for decades by Darwinists, that ape hominids should have the greatest animal intelligence, except that - many so-called "primitive" creatures and those far distant on Darwin's tee of life, exhibit extraordinary rsr.org/animal-intelligence even to processing stimuli that some groups of apes cannot AND: - Claims that the tree of life emerges from a single (or a few) common ancestors - conflict with the discoveries of multiple genetic codes and of thousands of orphan genes that have no similarity (homology) to any other known genes AND (as in the New Scientist cover story, "Darwin Was Wrong about the tree of life", etc.): - DNA sequences have contradicted anatomy-based ancestry claims - Fossil-based ancestry claims have been contradicted by RNA claims - DNA-based ancestry claims have been contradicted by anatomy claims - Protein-based ancestry claims have been contradicted by fossil claims. - And the reverse problem compared to a squeeze. Like finding the largest mall in America built to house just a kid's lemonade stand, see rsr.org/200 for the astounding lack of genetic diversity in humans, plants, and animals, so much so that it could all be accounted for in just about 200 generations! - The multiplied things that evolved multiple times - Etc. * List of Ways Darwinists Invent their Tree of Life, aka Pop Goes the Weasle – Head and Shoulders, Knees and Toes: Evolutionists change their selection of what evidence they use to show 'lineage', from DNA to fossils to genes to body plans to teeth to many specific anatomical features to proteins to behavior to developmental similarities to habitat to RNA, etc. and to a combination of such. Darwinism is an entire endeavor based on selection bias, a kind of logical fallacy. By anti-science they arbitrarily select evidence that best matches whichever evolutionary story is currently preferred." -Bob E. The methodology used to create the family tree edifice to show evolutionary relationships classifies the descent of organisms based on such attributes as odd-toed and even-toed ungulates. Really? If something as wildly sophisticated as vision allegedly evolved multiple times (a dozen or more), then for cryin' out loud, why couldn't something as relatively simple as odd or even toes repeatedly evolve? How about dinosaur's evolving eggs with hard shells? Turns out that "hard-shelled eggs evolved at least three times independently in dinosaurs" (Nature, 2020). However, whether a genus has an odd or even number of toes, and similar distinctions, form the basis for the 150-year-old Darwinist methodology. Yet its leading proponents still haven't acknowledged that their tree building is arbitrary and invalid. Darwin's tree recently fell anyway, and regardless, it has been known to be even theoretically invalid all these many decades. Consider also bipedalism? In their false paradigm, couldn't that evolve twice? How about vertebrate and non-vertebrates, for that matter, evolving multiple times? Etc., etc., etc. Darwinists determine evolutionary family-tree taxonomic relationships based on numbers of toes, when desired, or on hips (distinguishing, for example, dinosaur orders, until they didn't) or limb bones, or feathers, or genes, or fossil sequence, or neck bone, or..., or..., or... Etc. So the platypus, for example, can be described as evolving from pretty much whatever story would be in vogue at the moment...   * "Ancient" Protein as Advanced as Modern Protein: A book review in the journal Science states, "the major conclusion is reached that 'analyses made of the oldest fossils thus far studied do not suggest that their [allegedly 145-million year-old] proteins were chemically any simpler than those now being produced.'" 1972, Biochemistry of Animal Fossils, p. 125 * "Ancient" Lampreys Just Modern Lampreys with Decomposed Brain and Mouth Parts: Ha! Researches spent half-a-year documenting how fish decay. RSR is so glad they did! One of the lessons learned? "[C]ertain parts of the brain and the mouth that distinguish the animals from earlier relatives begin a rapid decay within 24 hours..." :) * 140-million Year Old Spider Web: The BBC and National Geographic report on a 140-million year old spider web in amber which, as young-earth creationists expect, shows threads that resemble silk spun by modern spiders. Evolutionary scientists on the otherhand express surprise "that spider webs have stayed the same for 140 million years." And see the BBC. * Highly-Credentialed Though Non-Paleontologist on Flowers: Dr. Harry Levin who spent the last 15 years of a brilliant career researching paleontology presents much evidence that flowering plants had to originate not 150 million years ago but more than 300 million years ago. (To convert that to an actual historical timeframe, the evidence indicates flowers must have existed prior to the time that the strata, which is popularly dated to 300 mya, actually formed.) * Rampant Convergence: Ubiquitous appeals to "convergent" evolution (vision, echolocation, warm-bloodedness, icthyosaur/dolphin anatomy, etc.), all allegedly evolving multiple times, undermines anatomical classification based on trivialities like odd or even-toed ungulates, etc. * Astronomy's Big Evolution Squeeze: - Universe a billion, wait, two billion, years younger than thought   (so now it has to evolve even more impossibly rapidly) - Sun's evolution squeezes biological evolution - Galaxies evolving too quickly - Dust evolving too quickly - Black holes evolving too quickly - Clusters of galaxies evolving too quickly. * The Sun's Evolution Squeezes Life's Evolution: The earlier evolutionists claim that life began on Earth, the more trouble they have with astrophysicists. Why? They claim that a few billion years ago the Sun would have been far more unstable and cooler. The journal Nature reports that the Faint young Sun paradox remains for the "Sun was fainter when the Earth was young, but the climate was generally at least as warm as today". Further, our star would shoot out radioactive waves many of which being violent enough to blow out Earth's atmosphere into space, leaving Earth dead and dry like Mars without an atmosphere. And ignoring the fact that powerful computer simulators cannot validate the nebula theory of star formation, if the Sun had formed from a condensing gas cloud, a billion years later it still would have been emitting far less energy, even 30% less, than it does today. Forget about the claimed one-degree increase in the planet's temperature from man-made global warming, back when Darwinists imagine life arose, by this just-so story of life spontaneously generating in a warm pond somewhere (which itself is impossible), the Earth would have been an ice ball, with an average temperature of four degrees Fahrenheit below freezing! See also CMI's video download The Young Sun. * Zircons Freeze in Molten Eon Squeezing Earth's Evolution? Zircons "dated" 4 to 4.4 billion years old would have had to freeze (form) when the Earth allegedly was in its Hadean (Hades) Eon and still molten. Geophysicist Frank Stacey (Cambridge fellow, etc.) has suggested they may have formed above ocean trenches where it would be coolest. One problem is that even further squeezes the theory of plate tectonics requiring it to operate two billion years before otherwise claimed. A second problem (for these zircons and the plate tectonics theory itself) is that ancient trenches (now filled with sediments; others raised up above sea level; etc.) have never been found. A third problem is that these zircons contain low isotope ratios of carbon-13 to carbon-12 which evolutionists may try to explain as evidence for life existing even a half-billion years before they otherwise claim. For more about this (and to understand how these zircons actually did form) just click and then search (ctrl-f) for: zircon character. * Evolution Squeezes Life to Evolve with Super Radioactivity: Radioactivity today breaks chromosomes and produces neutral, harmful, and fatal birth defects. Dr. Walt Brown reports that, "A 160-pound person experiences 2,500 carbon-14 disintegrations each second", with about 10 disintergrations per second in our DNA. Worse for evolutionists is that, "Potassium-40 is the most abundant radioactive substance in... every living thing." Yet the percentage of Potassium that was radioactive in the past would have been far in excess of its percent today. (All this is somewhat akin to screws in complex machines changing into nails.) So life would have had to arise from inanimate matter (an impossibility of course) when it would have been far more radioactive than today. * Evolution of Uranium Squeezed by Contrasting Constraints: Uranium's two most abundant isotopes have a highly predictable ratio with 235U/238U equaling 0.007257 with a standard deviation of only 0.000017. Big bang advocates claim that these isotopes formed in distant stellar cataclysms. Yet that these isotopes somehow collected in innumerable small ore bodies in a fixed ratio is absurd. The impossibility of the "big bang" explanation of the uniformity of the uranium ratio (rsr.org/bb#ratio) simultaneously contrasts in the most shocking way with its opposite impossibility of the missing uniform distribution of radioactivity (see rsr.org/bb#distribution) with 90% of Earth's radioactivity in the Earth's crust, actually, the continental crust, and even at that, preferentially near granite! A stellar-cataclysmic explanation within the big bang paradigm for the origin of uranium is severely squeezed into being falsified by these contrasting constraints. * Remarkable Sponges? Yes, But For What Reason? Study co-author Dr. Kenneth S. Kosik, the Harriman Professor of Neuroscience at UC Santa Barbara said, "Remarkably, the sponge genome now reveals that, along the way toward the emergence of animals, genes for an entire network of many specialized cells evolved and laid the basis for the core gene logic of organisms that no longer functioned as single cells." And then there's this: these simplest of creatures have manufacturing capabilities that far exceed our own, as Degnan says, "Sponges produce an amazing array of chemicals of direct interest to the pharmaceutical industry. They also biofabricate silica fibers directly from seawater in an environmentally benign manner, which is of great interest in communications [i.e., fiber optics]. With the genome in hand, we can decipher the methods used by these simple animals to produce materials that far exceed our current engineering and chemistry capabilities." Kangaroo Flashback: From our RSR Darwin's Other Shoe program: The director of Australia's Kangaroo Genomics Centre, Jenny Graves, that "There [are] great chunks of the human genome… sitting right there in the kangaroo genome." And the 20,000 genes in the kangaroo (roughly the same number as in humans) are "largely the same" as in people, and Graves adds, "a lot of them are in the same order!" CMI's Creation editors add that "unlike chimps, kangaroos are not supposed to be our 'close relatives.'" And "Organisms as diverse as leeches and lawyers are 'built' using the same developmental genes." So Darwinists were wrong to use that kind of genetic similarity as evidence of a developmental pathway from apes to humans. Hibernating Turtles: Question to the evolutionist: What happened to the first turtles that fell asleep hibernating underwater? SHOW UPDATE Of Mice and Men: Whereas evolutionists used a very superficial claim of chimpanzee and human genetic similarity as evidence of a close relationship, mice and men are pretty close also. From the Human Genome Project, How closely related are mice and humans?, "Mice and humans (indeed, most or all mammals including dogs, cats, rabbits, monkeys, and apes) have roughly the same number of nucleotides in their genomes -- about 3 billion base pairs. This comparable DNA content implies that all mammals [RSR: like roundworms :)] contain more or less the same number of genes, and indeed our work and the work of many others have provided evidence to confirm that notion. I know of only a few cases in which no mouse counterpart can be found for a particular human gene, and for the most part we see essentially a one-to-one correspondence between genes in the two species." * Related RSR Reports: See our reports on the fascinating DNA sequencing results from roundworms and the chimpanzee's Y chromosome! * Genetic Bottleneck, etc: Here's an excerpt from rsr.org/why-was-canaan-cursed... A prediction about the worldwide distribution of human genetic sequencing (see below) is an outgrowth of the Bible study at that same link (aka rsr.org/canaan), in that scientists will discover a genetic pattern resulting from not three but four sons of Noah's wife. Relevant information comes also from mitochondrial DNA (mtDNA) which is not part of any of our 46 chromosomes but resides outside of the nucleus. Consider first some genetic information about Jews and Arabs, Jewish priests, Eve, and Noah. Jews and Arabs Biblical Ancestry: Dr. Jonathan Sarfati quotes the director of the Human Genetics Program at New York University School of Medicine, Dr. Harry Ostrer, who in 2000 said: Jews and Arabs are all really children of Abraham … And all have preserved their Middle Eastern genetic roots over 4,000 years. This familiar pattern, of the latest science corroborating biblical history, continues in Dr. Sarfati's article, Genesis correctly predicts Y-Chromosome pattern: Jews and Arabs shown to be descendants of one man. Jewish Priests Share Genetic Marker: The journal Nature in its scientific correspondence published, Y Chromosomes of Jewish Priests, by scie

Watch this episode ad-free & uncensored on Patreon: https://patreon.com/dannyjones Kevin McKernan has pioneered the genomics of cannabis based therapeutics, human tumor sequencing & has initiated an R&D project to investigate chemFET semiconductor based DNA sequencing. Kevin's work has resulted in hundreds of publications and 7 Journal covers from Science Translational Medicine to Nature. SPONSORS https://mintmobile.com/danny - Get the 3 month plan for only $15 / month. https://publicrec.com/dannyjones - Get 20% off w/ code DANNYJONES. https://buy.ver.so/danny - Get 15% off your first order. https://whiterabbitenergy.com/?ref=DJP - Use code DJP for 20% off EPISODE LINKS https://twitter.com/Kevin_McKernan https://anandamide.substack.com https://medicinalgenomics.com FOLLOW DANNY JONES https://www.instagram.com/dannyjones https://twitter.com/jonesdanny OUTLINE 00:00 - Florida's Amendment 3 10:32 - Diseases linked to THC 15:16 - Human genome project 22:55 - Plant & Human DNA 29:28 - Genome sequencing to treat cancer 35:37 - Sequencing cannabis genomes 43:22 - PCR tests 56:06 - SV-40 01:06:42 - FDA 01:10:16 - New tumor research 01:15:54 - Contagious cancers 01:23:56 - Bio-defense & health 01:26:09 - Pharma & fraud 01:41:36 - Turbo cancers 01:45:43 - Decentralized medicine 01:50:20 - EMF's 01:54:08 - Defense grants & viruses 02:04:12 - Peer review process 02:15:39 - Casey & Calley Means 02:24:51 - Psychedelics & cancer treatments Learn more about your ad choices. Visit megaphone.fm/adchoices

Enjoy this episode? Please share it with at least ONE friend who you think needs to hear it! In this episode, Dr. Tom Cowan presents a controversial perspective on DNA, challenging conventional beliefs and examining the evidence—or lack thereof—behind the science of genetics. Known for his holistic approach and thought-provoking views, Dr. Cowan takes us through the origins of DNA research, where foundational assumptions may have led to misconceptions in biology and health science. He also critiques the scientific methods used in DNA studies, questioning whether DNA is a scientifically proven reality or more of a belief system. Key Topics Covered: Origins and Assumptions of DNA Science: The early studies on DNA and the assumptions that led to widely accepted beliefs, including the double-helix structure. The DNA Belief System: Why Dr. Cowan argues that DNA's existence is more a belief than a scientifically backed fact, with measurements and microscopy not aligning with conclusions about genetic coding. Debunking the Double-Helix Myth: Dr. Cowan discusses why the original findings didn't confirm a double-helix structure and how they might have been misinterpreted. Gene Coding Myths: An analysis of studies on gene-protein coding, challenging the claim that genes directly code for proteins. Scientific Contradictions and Missing Evidence: Common contradictions in mainstream genetic science and why they may not make sense from a holistic health perspective. About Dr. Tom Cowan: Dr. Tom Cowan is an alternative medicine doctor, author, and speaker, with a focus on holistic health. He is vice president of the Weston A. Price Foundation and has authored several books, including The Contagion Myth and Cancer and the New Biology of Water. His work emphasizes natural health principles, empowering individuals to seek wellness beyond conventional methods. Dr. Cowan's Website Use codes for discounts on products: TWF25 for 25% off vegetable powders TWF20 for 20% off organ-based seasonings TWF15 for 15% off seed oils and olive oils TWF10 for 10% off pantry items Relevant Links: Critical Review of DNA Discovery The New Understanding of DNA The Way Forward for Mankind Confluence 2025: Confluence 2025 is a transformative gathering on a regenerative farm near San Antonio, TX, where community, health, and freedom meet. Join us for workshops, live music, and a chance to connect deeply with nature. Join us for our 3rd annual Confluence Festival The Way Forward podcast is sponsored by: NEW BIOLOGY CLINIC: Experience individually tailored terrain-based health services with virtual consults, practitioner livestreams, movement classes, and more. The New Biology Clinic's motivation is to make you healthy and keep you that way. Visit https://NewBiologyClinic.com and enter code TheWayForward for $50 off your activation fee. Members of The Way Forward get the full activation fee waived. Become a member of The Way Forward here: https://thewayfwrd.com/membership-sign-up/ ————————— ORGANIFI: Experience the delicious taste of Organifi's products infused with 250mg of shilajit. Explore their full collection and enjoy 20% off your entire order by going to organifi.com/twf. ————————— Visit our online marketplace for discounts on a variety of the best holistic health brands and products: https://thewayfwrd.com/store/ For all of our links, and to watch or listen to The Way Forward on other platforms, visit: https://www.flowcode.com/page/thewayforward Join The Way Forward to connect with like minded men and women near you, businesses near you, and more! The best part? You pay whatever you want!: https://thewayfwrd.com/membership-sign-up/ Are you a natural health practitioner? Join our private, natural-health practitioner database here: https://thewayfwrd.com/directory-form/ ————————— *This material may not be published, broadcast, rewritten or redistributed in whole or in part without expressed written permission from The Way Forward, LLC. The purpose of this presentation is to convey information. It is not intended to diagnose, treat or cure a condition; nor is it to be considered medical or legal advice, opinion or recommendation. This information is presented in the spirit of service for all.* 0:00 - Rethinking DNA: Examining the Evidence 0:38 - Introduction 5:33 - Understanding the Discovery of DNA 11:33 - Unscientific Foundation 25:38 - Breaking Down the Starting Point's False Lens 30:00 - 2 Lines of Bias Evidence & a List of Assumptions 37:44 - How Did They Prove That Genes Code for Proteins? 43:17 - Things That Make No Sense 51:04 - The Book Comes First 53:44 - Possibilities with Genomes 58:26 - Environment Leading to How Beings Express 1:00:53 - Interplay with Electromagnetism 1:05:10 - Heredity and the Dog 1:09:53 - Closing Thoughts

Yes, it can certainly be a ‘rabbit hole' of what appears to be minutia of information. Yet if you don't get stuck interpreting every SNP (single nuclear polymorphism) and stand back just a little to see a bigger picture some of this information can be not only useful but some you can actually act on. Before you delve into attempting to analyze your own personal collection of SNPs just know that our ancestors didn't know a thing about this and lived healthy, long lives. Today however our diet is far from natural, and the air and water is far from clean, consequently it has put more of us in vulnerable situations than our ancestors ever imagined possible or even cared to think about.Let's talk about the ‘HOW' this information can be used to benefit you.Genetic control of methylation can affect your healthThe Rapid Metabolic Benefits of a Carbohydrate-Restricted DietWhat Is the COMT Gene? And How Does It Affect Your Health? 1-2020Are your genes responsible for your unhappiness? (Part 2): The COMT gene. Join our 30 day PSMF (Protein Sparing Modified Fast) Challenge HEREBuy C8Keto MCT Oil on AmazonOur Facebook Group Keto NaturopathSubscribe to our YouTube ChannelDownload our Free Keto Foods ListBuy Keto Friendly Dry Farm WinesGet your KetoMoJo Here and test your ketones.Visit our website for more podcasts, recipes, and information

In this episode, John Flavin sits down with Dr. Ivan Liachko, co-founder and CEO of Phase Genomics, a company at the forefront of genomics and microbiome research. Ivan shares his journey from a young immigrant fascinated by biology in Ukraine to a biotech leader based in Seattle. His academic path began with a keen interest in genetics, leading him to work at the University of Washington, where he honed skills in both genetics and computer science. Dr. Liachko discusses how Phase Genomics emerged from a passion project to solve unique biological challenges, evolving into a full-fledged company offering genome assembly services, microbiome diagnostics, and groundbreaking cancer diagnostic tools. Ivan's focus on innovation is clear, as he reflects on the importance of courage, community, and resilience when transforming science into industry. As the conversation unfolds, Ivan delves into his vision for future scientific breakthroughs and the value of an ecosystem that supports unconventional thinking.

Dr. Susan Wessler is a Distinguished Professor of Genetics at the University of California, Riverside. She is also a Howard Hughes Medical Institute Professor and the Home Secretary of the National Academy of Sciences. Sue is a geneticist whose research focuses on transposable elements, which are pieces of DNA that move from one site to another. In the process of moving they often make more copies. All organisms have these pieces of mobile DNA, and they make up a large portion of our genome. Sue wants to know how organisms survive and thrive with all this extra DNA, why it exists, and whether it provides any benefits. Outside of science, Sue loves to read, exercise, and read while exercising. She has also been enjoying exploring the mountains and beaches in Southern California. She received her PhD in Biochemistry from Cornell University. Susan then spent time as a postdoctoral fellow at the Carnegie Institute of Washington. She served on the faculty at the University of Georgia for over 25 years before moving to UC Riverside. Susan has received many awards and honors over the course of her career. She is a Member of the National Academy of Sciences, a member of the American Philosophical Society, a Fellow of the American Association for the Advancement of Science, and a Fellow of the American Academy of Arts and Sciences. She is also the recipient of the Stephen Hales Prize from the American Society of Plant Biologists the Federation of American Societies for Experimental Biology Excellence in Science Award, and the McClintock Award from the Maize Genetics. Susan is with us today to tell us all about her journey through life and science.

Yes, it can certainly be a ‘rabbit hole' of what appears to be minutia of information. Yet if you don't get stuck interpreting every SNP (single nuclear polymorphism) and stand back just a little to see a bigger picture some of this information can be not only useful but some you can actually act on. Before you delve into attempting to analyze your own personal collection of SNPs just know that our ancestors didn't know a thing about this and lived healthy, long lives. Today however our diet is far from natural, and the air and water is far from clean, consequently it has put more of us in vulnerable situations than our ancestors ever imagined possible or even cared to think about.Let's talk about the ‘HOW' this information can be used to benefit you.Genetic control of methylation can affect your healthThe Rapid Metabolic Benefits of a Carbohydrate-Restricted DietWhat Is the COMT Gene? And How Does It Affect Your Health? 1-2020Are your genes responsible for your unhappiness? (Part 2): The COMT gene. Disclaimer:This video is not meant to diagnose, treat, or mitigate any medical condition. It is merely for personal educational use only.—————————COME SAY HI!!! —————————— Facebook Group about Keto: https://www.facebook.com/groups/ketonaturopath/ ----------------- OUR NEW MEMBERSHIP GROUP FOR EVERYTHING KETO --------------------------------- Labs, Research and cooking, Implementation www.ketonaturopathmembers.com Weekly Live Zoom Q&A Sessions and private FB group BLOG: https://ketonaturopath.com/ Pinterest: https://www.pinterest.com/ketonaturopath YYouTube channel www.youtube.com/ketonaturopath Podcast: https://www.buzzsprout.com/482971/episodes Our Youtube Podcasts https://studio.youtube.com/channel/UC6LBX8_RDaXtzF_Z02jvl0QJudi's NEW cooking channel Keto Naturopath Kitchen https://www.youtube.com/c/KetoNaturopathKitchen ——————————— OUR COURSE —————————— PSMF 30 day course: https://www.thebiointegrationcode.com/courses/PSMFChallenge ———————— WHERE WE GET OUR WINE (an affiliate link) —————————— Dry farm wines www.dryfarmwines.com/ketonaturopath —————WHERE WE GET OUR Uric ACID FORA 6 METER ———————— https://www.fora-shop.com/ (that measures Glucose, Ketones, and Cholesterol together with Uric Acid) Get a 10% discount with this Discount Code: Ketonaturopath10 How we use the Fora 6 Meter https://youtu.be/0V5B_SXR6qM ————WHERE WE GET OUR GENOME SNP ANALYSIS DONE——————————— Strategene https://bit.ly/3iqCfka ——————————WHERE WE GET YOUR LABS DONE—————————————— https://www.UltaLabTests.com/ketonaturopath ————————— WHERE WE BUY OUR SUPPLEMENTS ———————————— https://us.fullscript.com/welcome/drgoldkamp/signupWhy get a Fullscript account to get your supplements?? 1. They have more brands than anywhere else to choose from; 2. Their prices are 20 -50% lower than anywhere else; compare and you'll see 3. This is where most physicians have their account 4. Been in existence for nearly 30 years working with physicians and health practitioners And make sure you subscribe to my channel! CONTACT: Questions, INQUIRIES: Karl: drgoldkamp@ketonaturopath.com Judi: support@ketonaturopath.com Sharing the metabolic strategy we used to regain our health and discoveries that will help yo

Barney Balmforth's journey is a testament to calculated risk-taking, resilience, visionary leadership, and two pivotal lessons: the importance of taking calculated risks and pursuing meaningful endeavors. These values, along with the inspiration to work hard, drove Barney's career in the high-stakes world of tech and biotech startups. His latest startup, Biofidelity, has attracted funding from top-tier investors like Agilent Technologies, Octopus Ventures, BlueYard Capital, and SBI Investment.

On Passion Struck, John is joined by Michael Marquardt, former Chair of the American Cancer Society and CEO of Epi-One, to explore groundbreaking breakthroughs in early cancer detection. The two dive deep into how epigenetic signals in the DNA molecule are revolutionizing how we diagnose cancer, offering hope for earlier and more effective treatments. Don't miss this insightful conversation on the future of cancer detection!His personal experiences with cancer, including the loss of his first wife, have driven his dedication to revolutionizing cancer detection and treatment. The episode shed light on the advancements in cancer research and the critical role of early detection in improving outcomes for cancer patients.Full show notes and resources can be found here: https://passionstruck.com/michael-marquardt-breakthroughs-cancer-detection/SponsorsBabbel is the new way to learn a foreign language. The comprehensive learning system combines effective education methods with state-of-the-art technology! Right now, get SIXTY percent off your Babbel subscription—but only for our listeners, at Babbel dot com slash PASSION.Stop hair loss before it's gone for good. Hims has everything you need to regrow hair. Start your free online visit today at “Hims dot com slash PASSIONSTRUCK.”Quince brings luxury products like Mongolian Cashmere, Italian Leather, Turkish Cotton and Washable Silk to everyone at radically low prices. Go to “Quince dot com slash PASSION” for free shipping on your order and 365-day returns.--► For information about advertisers and promo codes, go to:https://passionstruck.com/deals/JUST $0.99 FOR A LIMITED TIMEOrder a copy of my book, "Passion Struck: Twelve Powerful Principles to Unlock Your Purpose and Ignite Your Most Intentional Life," today!  Recognized as a 2024 must-read by the Next Big Idea Club, the book has won the Business Minds Best Book Award, the Eric Hoffer Award, the International Book Awards for Best Non-Fiction, the 2024 Melanie P. Smith Reader's Choice Contest by Connections eMagazine, and the Non-Fiction Book Awards Gold Medal. Don't miss the opportunity to transform your life with these powerful principles!In this episode, you will learn:The American Cancer Society has funded grants for 50 young researchers who have gone on to win the Nobel Prize.The American Cancer Society focuses on three pillars: research, patient support, and advocacy.Sedentary lifestyle and Western diets are contributing factors to the rise in cancer cases.EpiOne, a biotech startup, is pioneering early cancer detection through epigenetic signals on the DNA molecule.Early detection is crucial in improving cancer survival rates and treatment outcomes.EpiOne's technology can detect cancer signals at stage zero, allowing for early intervention and treatment.All Things Michael Marquardt: https://marquardtglobal.com/Catch More of Passion StruckCan't miss my episode withJulie Fleshman on How PanCAN Is Raising the Pancreatic Cancer Survival RateListen to my interview withDr. Lynn Matrisian on the Frontlines of Pancreatic Cancer – Education, Awareness, and ProgressWatch my episode with Bill Potts on Beat Cancer by Being Your Own Best AdvocateCatch my interview with Dr. Michael Pishvaian on Why Hope Is the Key to Fighting Pancreatic CancerLike this show? Please leave us a review here-- even one sentence helps! Consider including your Twitter or Instagram handle so we can thank you personally!