Podcasts about Genome

Genetic material of organism

  • 1,278PODCASTS
  • 3,847EPISODES
  • 56mAVG DURATION
  • 5WEEKLY NEW EPISODES
  • May 24, 2025LATEST
Genome

POPULARITY

20172018201920202021202220232024

Categories



Best podcasts about Genome

Show all podcasts related to genome

Latest podcast episodes about Genome

The Tim Ferriss Show
#812: The Random Show — New Health Gadgets, Tim's Latest Adventures, How to Drink Less, Zen Retreats, AI + Your Genome, and Colonoscopy Confessions

The Tim Ferriss Show

Play Episode Listen Later May 21, 2025 128:47


Welcome to another wide-ranging "Random Show" episode I recorded with my close friend Kevin Rose (digg.com)! We cover dozens of topics: from the cutting edge of health tech to pro-tips for colonoscopies; AI; adventures in Japan and Taiwan seeking out perfect coffee and tea; tips for drinking less alcohol; powerful documentaries like 32 Sounds and books such as Awareness; the unexpected joys and therapeutic benefits of adult Lego; and much, much more.Sponsors:Vanta trusted compliance and security platform: https://vanta.com/tim ($1000 off) Momentous high-quality supplements: https://livemomentous.com/tim (code TIM for up to 35% off)ExpressVPN high-speed, secure, and anonymous VPN service: https://www.expressvpn.com/tim (get 3 or 4 months free on their annual plans)*For show notes and past guests on The Tim Ferriss Show, please visit tim.blog/podcast.For deals from sponsors of The Tim Ferriss Show, please visit tim.blog/podcast-sponsorsSign up for Tim's email newsletter (5-Bullet Friday) at tim.blog/friday.For transcripts of episodes, go to tim.blog/transcripts.Discover Tim's books: tim.blog/books.Follow Tim:Twitter: twitter.com/tferriss Instagram: instagram.com/timferrissYouTube: youtube.com/timferrissFacebook: facebook.com/timferriss LinkedIn: linkedin.com/in/timferrissPast guests on The Tim Ferriss Show include Jerry Seinfeld, Hugh Jackman, Dr. Jane Goodall, LeBron James, Kevin Hart, Doris Kearns Goodwin, Jamie Foxx, Matthew McConaughey, Esther Perel, Elizabeth Gilbert, Terry Crews, Sia, Yuval Noah Harari, Malcolm Gladwell, Madeleine Albright, Cheryl Strayed, Jim Collins, Mary Karr, Maria Popova, Sam Harris, Michael Phelps, Bob Iger, Edward Norton, Arnold Schwarzenegger, Neil Strauss, Ken Burns, Maria Sharapova, Marc Andreessen, Neil Gaiman, Neil de Grasse Tyson, Jocko Willink, Daniel Ek, Kelly Slater, Dr. Peter Attia, Seth Godin, Howard Marks, Dr. Brené Brown, Eric Schmidt, Michael Lewis, Joe Gebbia, Michael Pollan, Dr. Jordan Peterson, Vince Vaughn, Brian Koppelman, Ramit Sethi, Dax Shepard, Tony Robbins, Jim Dethmer, Dan Harris, Ray Dalio, Naval Ravikant, Vitalik Buterin, Elizabeth Lesser, Amanda Palmer, Katie Haun, Sir Richard Branson, Chuck Palahniuk, Arianna Huffington, Reid Hoffman, Bill Burr, Whitney Cummings, Rick Rubin, Dr. Vivek Murthy, Darren Aronofsky, Margaret Atwood, Mark Zuckerberg, Peter Thiel, Dr. Gabor Maté, Anne Lamott, Sarah Silverman, Dr. Andrew Huberman, and many more.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

FORward Radio program archives
Solutions To Violence | Lisa Markowtz & Mike Perlin | Attacks on Higher Education | 5-20-25

FORward Radio program archives

Play Episode Listen Later May 20, 2025 64:21


Lisa Markowitz currently teaches Introduction to Cultural Anthropology, People and their Food, Anthropology of Latin America, Globalizing Inequalities, Food Justice, and Contemporary Issues in Anthropology, at the University of Louisville. Markowitz's research has focused on inequities in regional and global agrifood systems and popular efforts to transform them. These linked themes have informed her writing and scholarly-civic engagement in Andean South America and the upper U.S. South. She has carried out ethnographic field research in Peru and Bolivia, exploring the situation of peasant farmers and ranchers and their use of communal or collective strategies to improve their production systems and economic bargaining power. This experience led to a long-term interest in Andean food and agriculture as well as an engagement with building equitable food systems in the United States Her work has also addressed the roles of Non-governmental organizations as change agents in South America and the United States. Her most recent project concerns the grocery industry. Michael Perlin: Dr. Michael Perlin teaches Biology 330 Genetics & Molecular Biology, Biol 410 Misuse of Biology in Film and Pop Culture, Biol 542/642 Gene Structure and Function, Biol 416 Biotechnology Methods, and Biol 575/675 Evolution of Genes and Genomes. As a biologist Dr. Michael Perlin investigates the evolution of host/pathogen interactions, primarily at the molecular genetics and biochemical levels. The research in Michael Perlin's lab focuses on the evolution of interactions between pathogens and the hosts on which they cause disease. At present, this work has two main areas of emphasis: fungal/plant interactions and population dynamics of bacteria resistant to antibiotics.

The G Word
Dr Harriet Etheredge, Gordon Bedford, Suzalee Blair-Gordon and Suzannah Kinsella: How do people feel about using genomic data to guide health across a lifetime?

The G Word

Play Episode Listen Later May 13, 2025 30:35


In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person's life to guide healthcare decisions. Drawing on conversations from Genomics England's Public Standing Group on the lifetime genome, our guests explore what it might mean for individuals, families and society to have their genome stored from birth, and how it could transform healthcare. The discussion reflects on the potential for earlier diagnoses, better treatments and long-term prevention, alongside pressing ethical concerns such as data security, consent, and the impact on family dynamics. Participants share their views and discuss the future role of genomic data in medicine, with insights into how trust, equity and public dialogue must shape this evolving field. Our host for this episode, Dr Harriet Etheredge, is joined by Suzalee Blair-Gordon and Gordon Bedford, two members of the Genomics England's Public Standing Group on the lifetime genome, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that helped to facilitate this work. Together, they consider the broader societal implications of lifetime genomic data, and how public involvement can help guide policy and practice in the UK and beyond. This conversation is part of our ongoing work through the Generation Study, exploring how genomics can be used responsibly and meaningfully from birth onwards. You can listen to some of our Generation Study episodes by following the links below. What can we learn from the Generation Study? How has design research shaped the Generation Study? What do parents want to know about the Generation Study?   "This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction."   You can download the transcript, or read it below. Harriet: Welcome to Behind the Genes. Suzalee: I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms.  Harriet: My name is Harriet Etheredge, and I am the Ethics Lead on the Newborn Genomes Programme here at Genomic England. On today's episode I'm joined by 3 really special guests, Suzalee Blair and Gordon Bedford, who are members of Genomics England's Public Standing Group on Lifetime Genomes, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that has helped us to facilitate this work.  Today we'll be discussing the concept of the lifetime genome. What do we mean when we say, ‘lifetime genome'? How can we realise the promise of the lifetime genome to benefit people's healthcare whilst at the same time really appreciating and understanding the very real risks associated? How do we collectively navigate ethical issues emerging at this genomic frontier? If you enjoy today's episode, we would really love your support. Please share, like and give us a 5-star rating wherever you listen to your podcasts. And if there's a guest that you'd love to hear on a future episode of Behind the Genes, please contact us on podcast@genomicsengland.co.uk. Let's get on with the show. I'll start off by asking our guests to please introduce yourselves.  Suzalee, over to you.  Suzalee: Thanks, Harriet. So I am a proud mum of two kids, teacher of computing at one of the best academic trusts in the UK, and I am also a sickler, and for those who don't know what that means, I am living with sickle cell disease.  Harriet: Thank you so much, Suzalee. Gordon, over to you.  Gordon: I'm Gordon Bedford, I'm a pharmacist based in The Midlands. I've worked in hospital and community pharmacy. I have a genetic condition, which I won't disclose on the podcast but that was my sort of position coming into this as I'm not a parent of children, but it was coming in from my perspective as a pharmacist professional and as a member of society as well.  Harriet: Thank you so much, Gordon. And, last but certainly not least, Suzannah.  Suzannah: So, yes, Suzannah Kinsella. I am a social researcher at Hopkins Van Mil, and I had the pleasure of facilitating all of the workshops where we gathered together the Public Standing Group and working on reporting the outcome from our discussions, so delighted to be coming in from South London. Harriet: Thank you so much, everyone, and it's such a pleasure to have you here today. So, many regular listeners to Behind the Genes will now that Genomics England is currently undertaking the Generation Study. I'm not going to speak about it in much detail because the Generation Study has already been the subject of several Behind the Genes podcasts and we'll put some links to these in the show notes for this episode. But briefly, the Generation Study aims to analyse whole genomes of 100,000 newborn babies across England, looking for 250 rare conditions. We have a view to getting these children onto treatments earlier and potentially enhancing their lives.  The Generation Study is a research project because we don't know if the application of this technology will work. And as a research project we can also answer other important questions, such as questions about a lifetime genome. When we invite parents to consent to the Generation Study on behalf of their newborn babies, we ask to store babies' genomic data and linked healthcare data in our trusted research environment.  This helps us to further research into genes and health. But a critical question is ‘what do we do with these data long term?' And one of the potential long-term uses of the data is to revisit it and re-analyse it over a person's lifetime.  We could do this at critical transition points in life, like adolescence, early adulthood or older age, with the aim of using the genomic data to really enhance people's health. But this is a very new concept. There's been little work on it internationally, however I am pleased to say that interest seems to be picking up. In the Generation Study, whilst we are at the present time doing no lifetime genomes work, we are looking to explore the benefits, risks and potential uses of the lifetime genome.  This Public Standing Group on lifetime genomes was our first foray into this area.  So, I'd like to start off by inviting Suzannah to please explain a bit more about what the Public Standing Group is, why it was created and how a group like this helps us to generate early deliberation and insight.  Suzannah: So, the first thing I should talk about is who were these 26 people that formed part of this group, and the first thing to say is that they were a wide range of ages and backgrounds from across England, so some from Newcastle, some from London and everywhere in between. And these 26 people all had one thing in common, which is they had all taken part in a previous Genomics England public dialogue, either the whole genome sequencing for newborn screening which took place in 2021, or in a more recent one in about 2022/23 which was looking at what should Genomics England think about in terms of research access to data that's drawn from the Generation Study. So, the great thing was that everybody had already some previous knowledge around genomics, but the concept of a lifetime genome was completely new. So these 26 people met on 5 occasions over the period of 2024, mostly meeting face to face, and really the task that they were given was to look at the lifetime genome and look at it from every angle; consent, use, information sharing and all sorts of other aspects as well. Harriet: Gordon and Suzalee, you were participants in our Public Standing Group, I'd love to hear from you what your roles in the Standing Group were and what you found most interesting, but also for you which bits were the most challenging. Suzalee, shall we start with you? Suzalee: For me the most interesting bits were being able to learn about one's genome and, through Genomics England and their possible use of pharmacogenetics, could determine the specific medication that could be prescribed for a new health condition instead of expensive and possibly tonnes of adverse side effects trial and error medications. Additionally, as a person living with sickle cell disease, I got the chance to share my story and to give voice to people living with the same condition or similar to myself, and how the potential of the genomics newborn programme could help our future generation. There were some tricky bits, and the most challenging bit was to initially discuss and think about the idea of whether or not a parent might choose to know or not to know the potential of their newborn developing or prone to develop a certain condition based on the data received from the programme. My thought went back to when I gave birth to my first child 16 years ago and I was adamant to know if my child would inherit the sickle cell disease, what type, if it would be the trait. In my mind I knew the result, as my haemoglobin is SC and their dad is normal, but I wanted to be sure of my child's specific trait. But then I asked myself, “What if my child was part of the Newborn Genomes Programme, then the possibility exists that other health conditions could be detected through the deep analysis of my child's genome. Would I really want to know then? What would be the psychological effect or, in some cases, the social impact of what I have to learn?” Harriet: Thank you so much, Suzalee. And I think it's just wonderful to hear about the personal impacts that this kind of work can have and thank you for bringing that to us.  Gordon, I'll hand over to you. I'd be really interested in your thoughts on this. Gordon: So my role in the Public Standing Group was to give my section of society my experiences in life to bring them together with other people, so experiences like Suzalee and the 24 other people that joined us on the study, to bring our opinions together, to bring our wide knowledge and group experiences of life. And it's important to have a wide group, because it forces us to wrestle with differences of opinion. Not everybody thinks like I do.  As a pharmacist, I can see the practical side of genomics, like pharmacogenomics, where we could use a baby's genome to predict how they'll respond to drugs over their lifetime. That's a game-changer for avoiding adverse reactions or ineffective treatments, but not everybody's sold on it. Some in our group worried about privacy, who gets this data, or ethics, like whether it's fair to sequence a baby who can't say yes or no. I get that. I don't have children, but I hear those things clearly. The most interesting bits for me, the pharmacogenomics discussion in meeting two stood out, everyone could see the tangible benefits of tailoring medicines to a person's genome, making treatments more effective, and in Meeting 5 designing our own lifetime genome resource was also fascinating. Ideas like it for public health research showed how far-reaching this could be. Some of the challenging sides of things that I came across, the toughest part was grappling with unknowns in Meeting 4, like how to share genetic info with your family without damaging relationships. Those risks felt real, and it was hard to balance them against the benefits, especially when trust from groups like minority ethnic communities is at stake. Harriet: Thank you so much, Gordon. I think from you and Suzalee it's so fascinating to hear how you were grappling, I think, with some of your personal and professional feelings about this and your deeply-held personal views and bringing those first of all out into the open, which is something that is very brave and we really respect and admire you doing that, and also then understanding that people do hold very different views about these issues. And that's why bring these issues to an engagement forum because it's important for us to hear those views and to really understand how people are considering these really tricky ethical issues. So, Suzalee, I'm wondering from your perspective how do you feel we can really be respectful towards other people's points of view? Suzalee: Yes, Harriet. In spite of the fact that we had different viewpoints on some topics discussed, every member, researcher, presenter and guests were respectful of each other's point of view. We all listened to each other with keen eyes, or sometime squinted eyes, with a hand on the chin which showed that what was being said was being processed or interpreted. All our views were recorded by our researchers for further discussion and analysis, therefore I felt heard, and I believe we all felt heard.  Harriet: Do you have any examples that you can recall from the groups where there were differing points of view and how we navigated those? Gordon: Where we had screening at age 5, but we agreed on an opt-out model, because it could help spot issues early. But some worried - psychological impacts, knowing too much too soon. But we looked at an opt-out model rather than an opt-in model because it's easier to say to somebody, “If you don't want to continue with this, opt out” rather than trying to get everybody opting in at every different age range. So, as we reach the age of 5, 10, 15, 20, whatever, it's easier to get people to opt out if they no longer want to be part of that rather than trying to get them to opt in at each stage throughout their life. Harriet: Suzannah, do you have anything to add there as a facilitator? How did you feel about bringing these different points of view together? Suzannah: Yeah, you asked about where are the tensions, where do people maybe agree a bit less or agree and hold different views, and I think what stands out is particularly…  There was an idea floated by one of the speakers about you could have your DNA data on an NHS app and then, let's say if you're in an emergency, a paramedic could have access to it or others. And that really I think brought out quite a wide range of perspectives of some in the group feeling, “You know what, anyone who has an interest, anyone that can help my health, let them have access to it as and when, completely fine,” and others took a more cautious approach saying, “This is my DNA, this is who I am, this is unique to me, my goodness, if someone, some rogue agent manages to crash the system and get hold if it goodness knows what nightmare scenario it could result in,” and so had a much more keep it locked down, keep it very limited approach to having access to your lifetime genome data and so on. So that was a really interesting example of people going, “Yep, make it free” and others going, “No, just for very specific NHS roles,” which I thought was fascinating. Harriet: Yeah, thank you so much, Suzannah. And I think it's a real tangible challenge that those of us working in this area are trying to grapple with, is finding the middle ground here with all of the challenges that this involves, for instance, our data infrastructure and the locations at which data are held. 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! Harriet: I think this brings us really nicely onto looking at some of the ethical, legal and social issues that we need to think through when we're considering the lifetime genome.  I'm wondering if we can expand on some of these and the importance of addressing them. Gordon, would you like to give us your thoughts? Gordon: Sure, thank you. Our job was to dig into how a baby's genome could be used over the lifetime, think pharmacogenetics for better drugs, early childhood screening for conditions or carrier testing to inform family planning. We saw huge potential for individual health like catching diseases early, but also broader impacts like reducing NHS costs through prevention. Weighing the risks and benefits. The benefits like earlier diagnosis or research breakthroughs grew clearer over time with ratings rising from 4.1 to 4.7 - that's out of, I believe, a figure of 5, but risks like data breaches and family tensions over shared genetics stayed significant. We agreed the benefits could outweigh the risks but only with mitigations like transparent governance and strong security. And what are the global implications moving forward? What we discussed isn't just for the UK, it's feeding into the global conversation about newborns in genomic research. That responsibility made us think hard about equity, access, and how to build public trust. Harriet: Thank you, Gordon, I think there's so much there to unpack. And one point I think in particular that you've mentioned, and this came out really strongly as one of our main findings from these groups, was the way that a lifetime genome and the way that we might deliver that information could really impact family dynamics in ways that we might not have really thought of before or in ways that we really have to unpack further. And, Suzalee, I'd love to hear from you about this, how might diverse family dynamics need to be considered? Suzalee: Harriet, as it relates to diverse family dynamics a burning legal issue, which is then triangulated into being considered an ethical issue as well as a social issue, was the question can siblings of sperm donors be informed of life-threatening genomic discoveries? Whose responsibility is it? Will policies now have to be changed or implemented by donor banks to take into consideration the possibility of families being part of the new genomes programme? Harriet: Yeah, thank you, Suzalee. I think there's so much there that we have to unpack and in the Generation Study we're starting to look at some of those questions, but going forward into potential risks, benefits and uses of the lifetime genome, all of these new technologies around human reproduction are things that we're going to have to consider really, really carefully through an ethical and legal lens. Suzannah, I wondered if you have anything to add to these as major ethical issues that came out in these groups. Suzannah: I think, as you say, people were so fascinated by the idea of this information landing in a family, and where do you stop? Do you stop at your siblings, your direct family, the brothers and sisters of a child?  Do you go to the cousins?  Do you go to the second cousins?  It's this idea of where does family stop. And then people were really interested in thinking about who does the telling, whose job is it? And we had this fascinating conversation – I think it was in Workshop 3 – where this very stark fact was shared, which is the NHS doesn't know who your mother or your father or your siblings are; your NHS records are not linked in that way. And so that presented people with this challenge or concern that “Actually, if I get quite a serious genetic condition diagnosed in my family whose job is it to share that information, what support is there to do that and how far do we go?”  So, I think people were really fascinated and hopeful that Genomics England will really be at the vanguard of saying, “How do we as we move into an era of more genetic data being used in our healthcare, how's that managed and how's it shared?” Harriet: Yeah, thank you so much, Suzannah. So I think that what's coming out through everything that you're all saying is the huge breadth of issues that came up here. And of course we're seeing, very encouragingly, so many nods to the potential benefits, especially around things like pharmacogenomics, but we are seeing some risks.  Gordon, I wondered if you'd like to elaborate a bit further. Gordon: So, something that came up, and it divided the group quite considerably, carrier status divided us. Some saw it as reducing disease prevalence and others feared it could fuel anxiety or stigma amongst the family or other families. It showed how personal these choices are and why families need control over what they learn. Harriet: Yeah, it's a very good point, and carrier status is something that could be a conceivable use of our lifetime genome record. Suzannah? Suzannah: Just building off what Gordon was talking about, I remember there were also discussions around are we getting into a state where this is about eradication of so many different conditions, and actually how does that sit with a society that is more embracing, accommodating and supportive of people with different health needs. So, I think that was quite a big ethical discussion that was had, is, and particularly where we think about what we screen for in the future over time and so forth, people really being conscious that “Actually, where are we going with this? Are we risking demonising certain conditions and saying we don't want them on the planet anymore and what are the consequences of that?” 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. Harriet: And I think came to a point in our final meeting where we were asking our participants, so Suzalee and Gordon and everybody else in the room, whether you might consider having a lifetime genome for yourself and what that would look like. We'd love to share your views about that, and Suzalee, I'm wondering if you can share your thoughts on that with us first. Suzalee: Definitely. I would wholeheartedly be interested in the lifetime genome programme if it was offered to me right now. I believe that the pros for me are phenomenal. I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms. Harriet: Thank you, Suzalee. And, Gordon, how did you feel about it? Gordon: Being part of the group showed me how genomics is both thrilling and daunting.  I'd lean towards ‘yes' for a lifetime genome resource for the chance to detect conditions early, but I get why some people may say ‘no' over the data fears or ethical lines. This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction. Laws would have to be enacted regarding the storage, use and availability of genetic data. We haven't yet seen as well, how AI's complete benefits in medicine will develop over time. Harriet: Thank you so much, Gordon and Suzalee, for sharing that. And, Suzannah, I know that at the end of the Public Standing Group we generally asked all of our participants whether they would choose to have a lifetime genome, the same sort of question I've just asked Suzalee and Gordon. I wondered if you could just briefly give us an overall sense of how the Public Standing Group participants felt about that. Suzannah: Yes, so it's interesting to see that actually not everyone said, despite spending a year or almost a year discussing this, not everyone said, “Sign me up,” 6 said, “No” or “Maybe.” And the reasons they gave, this idea, “Well, all this data, could a government sell it off?  What guarantees have we got?”  So that was a reason. Somewhat of a concern also about breaches but also this idea of “What do I really want to know? Do I want to have a lifetime resource that can tell me what's going to happen next in my health?” and some say, “Let me deal with it when the symptoms start coming and that's the way I want to handle it.”  So, yeah, about 20 said, “I'd be really interested,” similar to Suzalee and Gordon, 6 on the fence or firmly, “No thanks.” Harriet: Thank you so much, Suzannah. I think your point about uncertainty there is so relevant and important to us. We see uncertainty across genomics and we're layering that here with uncertainty about futures, we're layering that with uncertainty about health. And I hope that this has served to really illustrate the magnitude of the challenge we're looking at here and I think also why for us as Genomics England this is just something we're exploring. There's so much to unpack, there's so much still to be done. In terms of our next steps for Genomics England, it feels like we could speak about this for a week but I'm going to have to wrap it up here. So, for us what are our next steps?  We hope really that as we publicise the findings of this Public Standing Group and when we start combining some of our work and looking at it in harmonisation with the work that others are doing across the world, we might be better positioned to understand the potential future directions that a lifetime genome could take. That's obviously very, very exciting because we expect to see this area of enquiry expanding significantly over the coming years.  And we're already hearing about a number of other countries who are also doing birth cohort studies like we are who might hope to use similar applications of the lifetime genome going forward. So, there's a real opportunity for us here to collaborate and it's really heart-warming that the voices of our participants in this Public Standing Group can be used to facilitate that level of engagement. For us at the Generation Study, we're already looking at the next iteration of our lifetime genomes work and we're being led by the findings of this Public Standing Group as we move forward, specifically in that we're going to be starting to take some of these emerging themes to the parents of our Generation Study babies to really find out how they would feel about them. Harriet: I'd like to extend my sincere gratitude to all for being my guests today, Suzannah Kinsella, Suzalee Blair and Gordon Bedford. Thank you so much for your time and joining me in this discussion of the lifetime genome. If you'd like to hear more content like this, which I am sure you would, please subscribe to Behind the Genes on your favourite podcast app. Thank you so much for listening. I've been your host, Dr Harriet Etheredge.  This podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac for Genomics England.

Generations Radio
Achilles Heel of Evolution - Collapsing Like a House of Cards

Generations Radio

Play Episode Listen Later May 7, 2025 33:16


When held to the scrutiny of honest questions, evolution collapses like a house of cards. What we've learned about the Genome mitigates against evolution. What we've learned about the fossil record mitigates against evolution. What we've learned about mutations and natural selection mitigates against evolution. What we've learned about the Big Bang mitigates against evolution. Kevin Swanson interviews Dr. Robert Carter on the latest book Evolution's Achilles Heel. This program includes:1. The World View in 5 Minutes with Adam McManus (Only 66% of Americans identify as Christian today, Supreme Court allows Trump's ban on transgender soldiers, Thousands joined Ireland's March for Life)2. Generations with Kevin Swanson

Farming Today
02/05/25 Gene-edited pigs, pea genome, agricultural transition

Farming Today

Play Episode Listen Later May 2, 2025 14:02


Gene-editing technology which makes pigs immune to a highly infectious virus, developed at Edinburgh University's Roslin Institute, has been approved for use by the US Food and Drug Administration. The virus causes a disease called PRRS or Porcine Reproductive and Respiratory Syndrome, which causes premature births in pigs as well as other painful symptoms and costs the pig industry billions. Current legislation doesn't permit its use in the UK. We speak to one of the scientists who's been working on the project for more than seven years.All week we've been taking a closer look at pulses, the dried seeds of crops like beans, lentils and peas, for both human and animal food. In the UK the peas we eat are generally frozen or fresh but dried peas are a major source of protein to millions of people around the world. Scientists at the John Innes Centre in Norwich have been working with researchers in China, the USA and France to uncover the genome of 700 different varieties of pea, from many different countries, to help develop better commercial varieties.The sudden suspension of England's biggest environmental scheme, the Sustainable Farming Incentive, earlier this year was met with horror and disbelief by farmers and environmentalists alike - we preview a special documentary which charts the transition of agricultural policy from the old EU farm subsidy system and the Common Agricultural Policy to the new 'public money for public goods' approach that we have in England today. Presenter = Caz Graham Producer = Rebecca Rooney

Historische Rebsorten - Der Podcast
Episode 29: NEUE DNA - ALTE IRRTÜMER? (1/2)

Historische Rebsorten - Der Podcast

Play Episode Listen Later Apr 29, 2025 98:06


In dieser zweiteiligen Podcast-Serie nehmen wir eine der bedeutendsten neuen Genomstudien zur Domestikationsgeschichte der Weinrebe unter die Lupe: Yang Dong et al. haben über 3200 Genome von Wild- und Kulturreben entschlüsselt und liefern mit ihrer Arbeit bahnbrechende neue Erkenntnisse – etwa die These von zwei unabhängigen Domestikationszentren in der Levante und im Kaukasus. Doch was sagen diese Ergebnisse wirklich über die Entstehung unserer heutigen Kulturreben aus? Und wo könnten blinde Flecken in der Interpretation liegen? Andreas Jung analysiert die Studie im Detail und präsentiert eine differenzierte, kritischere Sichtweise: • Er hinterfragt die klare Trennung zwischen Wild- und Kulturreben im Kaukasusgebiet und verweist auf mögliche frühe Hybridisierungen. • Er betont die zentrale Rolle Vorder- und Zentralasiens für die Entstehung großfrüchtiger, zwittriger Urreben – eine Region, die in der Studie kaum berücksichtigt wird. • Er zeigt, dass genetische Kerngruppen nicht immer mit bekannten morphologischen Typen oder Sortenfamilien übereinstimmen. • Und er diskutiert, warum archäologische und klimahistorische Daten ein komplexeres Bild der frühen Rebenentwicklung zeichnen als bisher angenommen. Die Episoden bieten einen spannenden Diskurs darüber, wie neue Daten unsere Vorstellungen von der Weingeschichte revolutionieren – und warum kritisches Hinterfragen wichtiger ist denn je. Für detaillierte Informationen und Zugang zur vollständigen Studie können Sie den folgenden Link nutzen: https://www.science.org/doi/10.1126/science.add8655 Entdecken Sie das aktuelle Weinangebot: www.schmecken-sie-geschichte.de

WDR 5 Quarks - Wissenschaft und mehr
Lesen, Mathe, Problemlösen - Was haben wir wirklich drauf?

WDR 5 Quarks - Wissenschaft und mehr

Play Episode Listen Later Apr 24, 2025 84:01


Jobfrust - Warum wir unseren Job wirklich kündigen ; Erste vollständige Genome vom Menschenaffen ; Lesen, Mathe, Problemlösen - Was haben wir wirklich drauf? ; Ab wann ist ein dicker Bauch ungesund? ; Generationen-Klischees: Was ist dran? ; Bangladesch - Was Monsunveränderungen für die Menschen bedeuten ; Schlangenbisse per App und KI erkennen ; Holzapfel: Apfel-Urvater vom Aussterben bedroht ; Moderation: Julia Schöning. Von WDR 5.

The G Word
Dr Natalie Banner, Paul Arvidson, Dr Rich Gorman and Professor Bobbie Farsides: How can we enable ethical and inclusive research to thrive?

The G Word

Play Episode Listen Later Apr 23, 2025 42:02


In this episode of Behind the Genes, we explore how ethical preparedness can offer a more compassionate and collaborative approach to genomic medicine. Drawing on insights from the EPPiGen Project, our guests discuss how creative storytelling methods, like poetry, have helped families and professionals navigate the complex emotional, ethical and practical realities of genomics. Our guests reflect on the power of involving patients and families as equal partners in research, and how this can lead to more inclusive, empathetic, and effective care. The conversation explores how ethics can be a tool for support, not just regulation, and how creating space for people to share their stories can have a lasting impact on healthcare delivery. Our host for this episode, Dr Natalie Banner, Director of Ethics at Genomics England is joined by Professor Bobbie Farsides, Professor of Clinical and Biomedical Ethics and Dr Richard Gorman, Senior Research Fellow, both at Brighton and Sussex Medical School, and Paul Arvidson, member of the Genomics England Participant Panel and the Dad's Representative for SWAN UK. Paul shares his poem 'Tap tap tap' from the Helix of Love poetry book and we also hear from Lisa Beaton and Jo Wright, both members of the Participant Panel. "The project gave us the tools to find a different way to get at all of those things inside of all of us who were going through that experience... It's almost like a different lens or a different filter to give us a way to look at all those things, almost like a magnifying lens; you can either hold it really close to your eye and it gives you like a blurry view of the world that goes on and you can relax behind that and find a way to explore things in a funny way or an interesting way, but you can also go really close into the subject and then you've got to deal with the things that are painful and the things that are difficult and the things that have had an impact." You can download the transcript, or read it below. Natalie: Welcome to Behind the Genes. Bobbie: In an earlier conversation with Paul, he used the word ‘extractive,' and he said that he's been involved in research before, and looking back on it he had felt at times it could be a little bit extractive. You come in, you ask questions, you take the data away and analyse it, and it might only be by chance that the participants ever know what became of things next. One of the real principles of this project was always going to be co-production and true collaboration with our participants. Our participants now have a variety of ways in which they can transport their voices into spaces that they previously found maybe alienating, challenging, and not particularly welcoming. Natalie: My name is Natalie Banner, I'm the Director of Ethics at Genomics England and your host on today's episode of Behind the Genes. Today I'll be joined by Paul Arvidson, a member of the participant panel at Genomics England, Professor Bobbie Farsides, Professor of Clinical and Biomedical Ethics at Brighton and Sussex Medical School, and Dr Rich Gorman, Senior Research Fellow, also at Bright and Sussex Medical School.  Today, we'll be exploring the ethical preparedness in genomic medicine or EPPiGen Project. This project examined how the promise and challenges of genomic medicine are understood and experienced by the people at the heart of it, both the clinicians providing care and the patients and families involved.  A big part of the EPPiGen Project explored using creative methods of storytelling and poetry to explore the experiences of parents of children with rare genetic conditions.  We'll discuss why the idea of ethical preparedness is crucial in genomic medicine to acknowledge the challenges and uncertainties that often accompany the search for knowledge and treatment in genomic healthcare, and to help professionals develop the skills to navigate the complex ethical considerations.    If you enjoy today's episode we'd love your support. Please like, share and rate us wherever you listen to your podcasts. Is there a guest you'd really like to hear on a future episode?  Get in touch at podcast@genomicsengland.co.uk. So, I'm going to ask our fantastic guests to introduce themselves.  Paul, would you like to go first? Paul: Hi, I'm Paul Arvidson. As well as my Genomics England hat, I've got a SWAN hat as well, I'm the dads' rep for SWAN UK, and I'm on the poets from the EPPiGen Project.  Natalie: Brilliant to have you hear today. Thanks, Paul. Rich?  Rich: Hi, I'm Rich Gorman, I'm a Senior Research Fellow at Brighton and Sussex Medical School and I've been working on some of the research on the EPPiGen Project that looks at people's social and ethical experiences of genomic medicine, and particularly families' lived experiences of genomics.  Natalie: Brilliant. Really looking forward to hearing from you. And Bobbie?  Bobbie: Hello, I'm Bobbie Farsides, I'm Professor of Clinical and Biomedical Ethics at Brighton and Sussex Medical School and co-PI with Professor Anneke Lucasson of the Wellcome Trust funded EPPiGen Project, and it's been my pleasure and privilege to be involved in the work that we're going to talk about today.  Natalie: Really fantastic to have the 3 of you here today. So, we're going to take a slightly unusual approach to starting the podcast today and we're going to begin with Paul who's going to read us a poem from the book Helix of Love. Paul, over to you.  Paul: This is called Tap, Tap, Tap.  ‘Tap, tap, tap, I hold the egg to my ear. There it is again, tap, tap, tap. Run to get a torch and light through the shell, to see who's tapping from within. Chicken's home from work these days just for fun and the odd egg. Market stalls swapped for medicines, cash boxes for cough machines. We kept the apron though. Profound learning disability is our life now, most of it, learning about it, learning from it, surviving with it, despite. It's a subtle egg though, this. The shell is there, invisible, but there's a person inside, tap, tap, tap.  What are you trying to tell us about what the world's like for you? Are you bored? Do you hurt? Is your sister a love or a pain? Tap, tap, tap. I wish I could set you free.'  Natalie: Thank you, Paul. Such beautiful and powerful words. I wonder if you wouldn't mind telling us a little bit about that poem and your journey and maybe touch on what the EPPiGen Project has meant for you.  Paul: Wow, that's a lot to unpack in one go. I suppose the oddness of the metaphor is probably worth a mention. The way the project worked is that Bobbie and Rich collected together a proper poet, Dawn Gorman, and she led us through the process of kind of, she basically taught us all to be poets from scratch, it was… When you say it like that it was a hugely audacious project really to just collect all these randoms together in a room and throw a poet at them and see what happened.   And they trusted us, I suppose, and trusted Dawn that there was going to be something came out of this. But one of Dawn's techniques was that like each week we did… I think we did… Did we do 6 weeks, chaps? Which felt like a huge amount of time, but it went in milliseconds. But what she did every week was that she gave us either a poetic form to work with, like, you know, “This week we're going to learn how to do a haiku, or a sonnet,” or whatever, or she'd gone away and thought of a particular poem that she thought might resonate with us and then she'd bring that to the session. And she'd read a poem out and then say, “Right, what did you make of this? Go away and write what it inspires you to write.”    So, the poem that I wrote was, the inspiration for that session was a poem called The Egg by Richard Skinner. His poem was more about the form of the object itself, so, although that sounds really abstract, it really, really helped. So, every week it would be like Dawn threw this object into the group and said, “Right, okay, here's your new prompt, bosh, off you go.” And although that sounds like the most obscure way to deal with anything, because you get a structure around which to organise your thoughts it was just this like hugely powerful thing for everybody.    And so, the thing that came to mind for me was the metaphor of the egg rather than the egg itself and it just kind of chimed with all of us. Like we used to run the egg stall in Minehead farmers' market and so, I married into a country girl and so she had like 200 laying hens at one point, and so we had this whole market stall antics but also it spoke to so many things in one hit. So we gave up that part of our lives as our daughter Nenah's condition became more and more complex.    She was always, once we knew what her genetic condition was one of the few things that we knew from the get-go was that it was progressive. So we knew in advance that that was the case, but we didn't know what that meant. And so slowly but surely one of the things we had to do was give up our working life, you know, one week and one hour at a time, it felt. So part of the poem's about that as well, the shift in the poem from the comedy bit to the beginning to the more serious bits at the end, and it kind of felt like we gave those things up day by day but the poem kind of got to speak to that.   And then there's also the metaphor. Once you've got a good metaphor it's always good to run with it, you know? And so the idea of the metaphor of somebody who's got profound learning disabilities and can't speak being inside this shell and as parents you're always kind of peeking in from the outside to see what's going on within or to try and find ways, the idea of when you're checking to see if you've got a chick inside your shell, and you do this thing called ‘candle' where you hold the light to it, that I describe in the poem, and you like hold it to your ear and hear if there's movement going on inside. And you kind of, I don't know, I felt with a profoundly learning-disabled child that you always feel like you're doing that as a parent as well to see if what you're doing is, you know, if you're still communicating while you're trying to be a parent.  Natalie: Fantastic. Thank you so much for sharing that with us, Paul, both the poem and also your exploration of how you got to that point in writing that poem.  Tremendously powerful to kind of understand and hear about that experience.  Bobbie, if I can come to you. Paul referred to that project as kind of audacious, can you tell us a little bit about the origins of the Helix of Love but also why storytelling, especially through poetry, was so important for the EPPiGen Project?  Bobbie: Yes, of course, Natalie. But can I start by saying I was so pleased that you got Paul to speak for a while after because I always have to compose myself after hearing these poems because they really do hit so powerfully, however many times you hear them. And I think that is part of what we wanted to achieve with this project, we wanted to use innovative research methods, we wanted to be…  I love the word ‘audacious'; I'm going to borrow that.  We wanted to be audacious; we wanted to be courageous, and let me tell you, our Ethics Committee were a little bit worried about the sorts of things we told them we wanted to do. But we knew because we live and work in Brighton that the world is full of creative people and we'd already had such wonderful partnerships with people over the years, we knew that we could draw people into this project who would help us to work with this fabulous group of parents ,in a way that would give them, as Paul says, an opportunity to explore their own feelings and their own experience and share it as they wished.    In an earlier conversation with Paul, which he might find surprising that it's stuck with me so much, he used the word ‘extractive' and he said that he'd been involved in research before and looking back on it he had felt at times it could be a little bit extractive. You come in, you ask questions, you take the data away and analyse it and it might only be by chance that the participants ever know what became of things next. One of the real principles of this project was always going to be co-production and true collaboration with our participants, and the poetry project probably wouldn't have come about if it hadn't been for the passion of one of our participants who was sort of finding a love for poetry herself and said, “Can we try this next?” So, you know, it means so much to Rich and I that we ended up with this amazing book, but it's not our book, it's our poets', as we like to refer to them, book.   So, one of the things that we are so pleased about in this project is that our participants now have a variety of ways in which they can transport their voices into spaces that they previously found maybe alienating, challenging, and not particularly welcoming. And I think another wonderful upshot from this project has been how receptive people have been to the work. And it's a sort of commonly held myth that your average philosophy article has a readership of 3.4 people. Rich created a wonderful map to show how Helix has travelled round the world and touched thousands of people – I don't think that's an exaggeration – and we couldn't be more grateful for that as researchers because we feel as passionately about these subjects as our participants and it is they who have really got this project on the map. Paul, you were going to come in, I hope.  Paul: I feel like the one thing that this project really did was, I know PPIE is a phrase that's bandied round but this project kind of stripped that theme apart and took the ‘I' bit, this project is like built around inclusion and because it felt like, if we'd have just been jumping in a room with Dawn and told to get on with it, I don't think it would've worked as well. The idea that it was kind of curated by Bobbie and Rich, we very much felt like our hands were held through the process, and after them having had to kick down doors in the Ethics Department to be able to get the project through at all, it's like “What are you going to do to these poor parents?” having gone through that process themselves behind the scenes, then to kind of feel like we were guided through this process. And we were guided and held, and they were super-aware of all of us. And the fact that every time you tell these stories as a parent who's gone through them there's a cost. And we've had this discussion with the panel before and the communication group, about the fact that every time you come to a parent and say, “Tell us your story” there's a cost.   And so, they were aware of that, and they held that in both of their hands and so it couldn't have been anything other than this collaborative project by the time we'd finished.  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! Natalie: We're going to hear a clip from Lisa Beaton, a member of the participant panel at Genomics England, who shares what it has meant for her to take part in the project.  Lisa: It was an amazing opportunity. I had a huge sense of imposter syndrome actually when I as invited to join, because I was aware of some of the people who'd already taken part in the project and although I can bring lived experience to the table I don't really consider myself as a creative writer or anything like that, although I do enjoy it. When I first started in the group, we were just doing free-flowing writing. It was really cathartic, and I didn't expect that in any way, shape or form. To put pen to paper without necessarily having any strategy in mind, just letting the thoughts come out and ramble away, I didn't really know what was going to come blurting out onto my notepad, and reading some of it back was moving but it was frustrating. It was moving, it was everything really, that opportunity just as a safe space, knowing I didn't have to share it with anybody if I didn't want to but I could, and I could just, I suppose I would call it almost like a brain fart, it just rambled away and maybe it was a way of downloading some of the emotions that I was carrying.   As the project went on and we explored different creative mediums I really enjoyed that and found different skills that I wouldn't have thought about. And it was very thought-provoking, being able to go back and think about some of our very early experiences, which is, not that I've buried them but it's just you move on to deal with the here and now, and it brought me back to some of those very raw emotions of the first days which I think are, I hope, helpful to certainly the medical community in terms of thinking about how they talk to new parents going through similar situations. I was very grateful.  Natalie: Rich, I'd like to come to you now. As Bobbie and Paul have both mentioned, the outputs for this project have really spread far and wide and maybe beyond the kind of academic circles that you might typically think. I'd really like to hear from you about how you think the project has helped healthcare professionals, particularly really enabling them to understand a little bit more about what it means to be part of a genomic healthcare service and the journey that patients and families go through. Would you share a little bit about your experience in the project, particularly for healthcare professionals?  Rich: Yeah, I mean, that was one of the things that when Bobbie and I set out to do this, that was one of the real aims, was to sort of help healthcare professionals have a bit more of an insight into what it means to access genomic medicine services from a patient or family perspective. And, as Bobbie said, there were 2 ways we could have gone and done this; we could've done some sort of conventional social science interviews, written that up in a lovely social science or philosophy journal article and no one would've probably read it, but instead we thought about the power of the arts to actually change in terms of how we were sort of collecting and collating people's stories and then how we were sharing and disseminating those stories as well. And I think the medium by which stories are told affect the kind of stories that get told, as Paul was sort of hinting at earlier.    When we ask patients to tell us their story, you know, there's a level of expectation there about what people are being asked to say in a form in a way, and certainly we didn't get people in a room and say, “You must write about genomics.” So many of the poems in the collection aren't really about sequencing or big data, they're about these kind of much wider themes of everyday life. And I think that's been really powerful in allowing healthcare professionals to sort of understand for patients obviously genomics is really important but it's not the be all and end all of everything that's going on in their lives, you know, there are so many other pressures, so many other hopes and desires, and people want an opportunity to express some of those positive aspects of their life with their loved ones and it not just be medicalised all of the time.    Again, as Bobbie said, it's also opened up our research travelling really well and just become something that's really accessible for people to pick up and read through, and I've had conversations with healthcare professionals that have said, “Oh I read through the book of poetry and it's made me realise all of these things.” Language particularly has been a really prominent theme that people have reported, telling us they've learnt a lot about it, and thinking about how they write their letters and how they communicate with people. And obviously this isn't new, you know, bioethicists for years have been talking about the need to communicate very carefully, very precisely and in a caring way, but I think there's something about communicating those messages through a really powerful art form like poetry through patients' own words that allows clinicians and healthcare professionals to sort of really get the impact of that in a very, very powerful way.  Natalie: Thanks, Rich, really helpful insights there. I really want to pick up on your point about language and come back to Paul on that because I know that's a topic area that can often be, you know, hugely sensitive to families that the medicalisation, the terminology that's used, especially, you know, complex areas like genomics, coming back to this term we mentioned earlier about being sort of alienating. How have you found that the work through the EpiGen project and Helix of Love, has it potentially helped the way that families can think about the right sorts of language and enable health professionals to sort of approach some of these questions in a slightly more human way? Paul: Difficult to say. It's a very, very live topic all the time. There's like a backchat communications channel with the Genomics England panel where, because we all go along and do this thing, but we all share that genomics common thread in our lives. One parent was breaking their heart about the fact that they'd had sight of genetic science reports that basically described their child, and children like them as ‘lumped together' in a project, and she was gutted about it. And we all were as well, and we were all open-mouthed about it. The whole idea of kind of separating the science and the science language out from the people who are involved, it is our job, isn't it, you know, our job as the panel members is to remind people that those are people, not statistics. But it's a really live subject and the more people, the more professionals who can be reminded of that on a daily basis and the more we can find kind and open ways to deliver that message to professionals, and every single day that we do that makes a difference, I think. If one parent has to get less of a letter like that or one professional thinks more carefully about how they phrase stuff before it goes out the door, then that's one less parent who's got to go through that.  Natalie: Absolutely. And I'm thinking about that insight. I suppose the anticipation and the realisation to healthcare professionals about the impact of the way they approach things, the language they use, the kind of mindset they might adopt with parents and families, one really important aspect of the project was to do sort of preparedness and the idea that you should be able to anticipate and plan for and acknowledge some of the ethical challenges that might come through when you're dealing with questions of genomic healthcare where there may be lots of uncertainty, there may be a long journey to go through.   Bobbie, can I come to you to help us unpack this notion of ethical preparedness as a core theme for EPPiGen? Help us understand what that means in kind of simple terms and why does it matter for those who are working in the genomic medicine and healthcare space.  Bobbie: I think the way in which most people will have heard of this concept of preparedness is in relation to disaster planning. We know that some of the good things we try and do in life are also potentially fraught with challenges and difficulties just because of their complexity and because of the wide range of people and organisations that will be involved. Can we take this idea of preparedness and almost say, “You have a moral responsibility to be ethically prepared when, for example, you embark upon a really dramatic change in healthcare delivery or an introduction of fantastic new healthcare innovation”?    And genomics seemed to be the perfect case study for this. We then had to say, “What does that actually mean in practice?” And I think here we wanted to move away from the idea that you can ethically prepare people by putting a small albeit very expert and clever group of people in a room to write guidance and regulations, those things are needed and they're useful. But it's actually much more important to almost recruit everybody, to bring everybody up to speed, so that the ethical challenges aren't a complete shock to those who are delivering the service in the frontline, so that those who plan systems actually think whilst doing so of the ethical challenges that can be posed by the tasks they're attempting to achieve.    And I was a sort of founder member of the Ethics Advisory Committee at Genomics England, and it was so interesting in those early days because there were no patients, there were no participants. We were sitting alongside people whilst they designed and put in place basic processes, strategies and ethics was a part of that. And a really important part of that to me, at those meetings, was hearing what the potential participants had to say about it because, again, the Participant Panel was involved. And I found that those were my people, those were the people who were worrying about, concerned about the same things as I was.  So, I think to be prepared we have to take on the responsibility of giving people who work in ethically challenging areas opportunities to come together to acknowledge the complexity of the task, to share strategies and tools, but also, very importantly, to not become divorced from the people that they are attempting to serve, because in fact we feel that this part of our project, and our project is much bigger than this and we've done some fantastic things working with healthcare professionals, medical scientists, etc, etc, but this part of the project is an attempt to say, “We can better prepare families as well by ensuring that we tell them that their voices are valuable, that they're important, and they help rather than hinder healthcare professionals in doing their jobs.”  Natalie: That's a really important point around the idea that this approach can help, can be positive. Because I think sometimes you think about preparedness and, and quite often with ethics it's about risk, it's about, you know, “How do we avoid the risks?” but there's a very positive story to tell about taking a more preparedness-type approach to thinking through ethical complexities, challenges and so on, both for health professionals and, as you say, for families. I wonder if you could just talk a little bit more about the kind of positive aspects that that can bring to everyone in that genomics healthcare journey, both the health professionals and the families.  Because I think sometimes it's easy just to think that it's mostly about sort of avoiding the risks and the pitfalls, and that might be harder to engage with people if you take that sort of risk-based approach.  Bobbie: Yeah, it's an interesting one. I think the ability to confront risk and uncertainty is a sign of maturity. And we find medical students, for example, hate any sense of uncertainty; they want to be told how to do something and they want to know that they'll be able to do that thing and get it right. And our job is often to say, “Well it's not going to be as easy as that, in fact it might be impossible, and here's what you have to do instead and here's how you allow yourself to fail or to not achieve in the way that you want but still do something really meaningful for the people that you're caring for.”  So, I think there's that aspect of saying, “It's part of medical education, it's part of how we should think in organisations that wherever you take risks, wherever you try to push frontiers, blur boundaries…”  I mean, genomic medicine has done something really interesting in terms of blurring the boundary between scientific research and clinical care. Wherever you do these things there are going to be challenges but those challenges, they're fascinating, they're interesting, they can bring us together. If we've got a shared will to get through them, you know, to make things work, then it's enlivens what you're doing; it's not a barrier.   I sort of began teaching and working in the space of bioethics right back in the ‘80s, which is a shock to you, I'm sure, but in those days I'm afraid that ethics was seen as a block, a barrier, a hurdle that people had to get over or through. And I think there's still a sensitivity, and certainly, I myself have been sort of challenged on critiques that I have offered to say, “Oh that's a bit harsh.” But I think what ethics attempts to do now, and certainly through really putting a positive spin on this idea of working together to establish ethical preparedness in important spaces, is to show that actually ethics can be very facilitative, it can be very supportive, and it can help people. It's not a surveillance mechanism, it's actually another clinical tool and something that, you know, people should seek support around.  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. Natalie: Rich, if I could come to you thinking about that reframing, I suppose, in your own research practice as an early career researcher, whether you're seeing that maturity in approach in thinking about some of these really complex, knotty ethical questions in genomics, are you seeing a greater appreciation for those?  And where do you think you're going to take your research as a result of this project in that space?  Rich: Yeah, thanks, that's a great question. Yeah, I think so, and I think one of the things that's really been revealing in this is the appetite for this kind of work in the sort of genomics sector, an appetite for thinking about the sort of complex ethical issues, for engaging with kind of arts-based research, for sort of finding new language and new spaces to involve patient and family perspectives and stories and think about how we can learn from them.    I think in the highly scientific, highly technical space of genomics we often assume that everyone wants numbers and hard data but actually I think the way that this work has travelled, the amount of invitations we've had to sort of exhibit this work and talk to healthcare professionals and scientists about this work shows that there's this really rich appetite for thinking about this complexity and doing that work of ethical preparedness, as Bobbie's talked about, and I think it's fascinating. And I know a lot of the participants who joined in our project have also sort of had opportunities from being involved in our work and found that there are people that want to listen to their voices and hear from them and learn from them as well. So that's been really exciting, and I hope it will continue and I hope there's opportunities for much more interdisciplinary collaboration in the genomics space with philosophers, with social scientists with ethicists, with artists and, importantly, with patients.    Paul: You mentioned the idea that certainly the poetry at the very least has allowed those voices to get into different spaces, and I think when those things first started happening it was when we at least as the people who'd written the poems felt that there was a huge big impact from this stuff. And I wasn't the first one to read one of these poems out loud, and in a way the collection of poetry became bigger than the sum of its parts in a funny kind of a way. And I can't remember but somebody read one of the poems at a conference somewhere and they said at the end of it that you could've heard a pin drop, and it was just that thought that actually with a big audience expecting kind of quite dry subject matter about genetics, to have felt that moment where the poem got launched off the stage and then it impacted on the audience and then, the way they described it, you could almost kind of feel them describing the ripples of the poem just like spreading out amongst this kind of silent audience and everyone kind of taking this kind of mental sigh of like “Oh that's what it feels like.” And the idea of that happening was when, for me anyway, when we knew that what we'd created was bigger than the sum of its parts and had its own legs, Bobbie and Rich had been the Dr Frankensteins of this kind of amazing, beautiful monster. Natalie: Obviously the poetry's got into your soul, Paul, the metaphors are fantastic. But just to make sure we bring in even more participant voices and perspectives into this we're just going to hear now from Jo Wright, who's another member of the participant panel, who's going to share what the project and the participant in it has meant for her.  Jo: So being part of the EPPiGen Project, it helped me to find my voice in an area that was relatively new to me, and also it was a way to take control of my own experiences rather than feel like I'm being swept along by a lot of systems.    And there were things that I really value that I thought contributed to making the project so successful. One was that they asked the question “What is this experience like for you, the experience of being part of a research project, the 100,000 Genomes experience of waiting, the experience of having your data in the library?” And no one had asked that before. You go to your appointments and you're in the system and, you know, it's kind of, everyone was finding their way to some extent because it was new for all the clinicians as well, but the fact that they asked, because no one asked that before, I don't have an outlet for that.     And then the other thing was that it was completely open so there was no research interview or questionnaire to answer, no expectation about what it was going to look like at the end. And I think working that way really strengthened the connection between us as parents of children with rare conditions and then also our relationships with Bobbie and Rich as the researchers and with the wider clinical community when they started to see our work and respond to it. So it was a way to understand people's individual experiences but it also made us feel connected and empowered through sort of like shared human experience, and that could be between us as the participants but also shared experiences between us and the researchers or us and clinicians and scientists that were looking at what we've done.  Natalie: So we've heard lots about the experience of participating in this fantastic EPPiGen Project, the kind of creative storytelling methods, the audacious methods that have been used, and some fantastic impacts beyond the kind of typical what could be quite dry sort of academic circles that this kind of work has spread out to.  I'd be really interested to hear from each of you about the takeaways, what you've learned, what's changed for you and what you'd like our listeners to really understand about this project and the work, and the sort of outputs from it and the ways it might continue to have resonance and impact going into the future, so whether people are patients, families, clinicians, researchers. What would you like people to remember and what's affected you most about the project?    Bobbie, I might start with you.  Bobbie: I think we have to always be very careful when we get excited about something - and the ‘we' here are the people in the health community, the education community, etc - to remember. As Rich said earlier, that this is only ever going to be quite a small part of other people's lives. You know, we've all devoted big parts of our careers, our enthusiasm, to thinking about genomics, to working in this space. I would really like people to pick up the book and work to understand a bit better about the everyday lives, the hopes, the expectations, the fears of the families who may or may not get a diagnosis, may or may not get on a good treatment path, all of whom want the best for themselves and everybody else from this venture.    But, as Paul knows better than most, it won't come to everybody, and we don't want anybody to be forgotten along the way. The people that signed up for Genomics England as participants were pioneers alongside medics and the scientists, and in these early years we want their experience to be recognised, and their experience goes much beyond their interaction with Genomics England and, unfortunately, all the work that we've produced shows how many challenges families have to face to secure a good life for their children, and I just want us all to just keep that in mind.    Natalie: Incredibly important to maintain that focus, that awareness. And, as you say, Bobbie, there's an interesting balance where there is a need for the drive and the innovation and the ambition to help ensure that we are pushing at the forefront of medical research but not leaving people behind and not ever forgetting, as you say, the experience of people who are actually at the forefront of this research and of genomic healthcare.   Paul, could I ask for your perspectives on this, and particularly how you see patient voices being involved in the future of genomic medicine, especially in light of your experience in the EPPiGen Project?  Paul: I think the biggest surprise and biggest takeaway for me was the project gave me, I mean, I can't speak necessarily for all the other poets, but you only need the evidence in the book itself. They gave us the tools, the project gave us the tools to find a different way to get at all of those things inside of all of us who were going through that experience. So it gave us a way to talk about all of those things and a way that was I suppose slightly removed to start with. It's almost like a different lens or a different filter to give us a way to look at all those things, almost like a magnifying lens; you can either hold it really close to your eye and it gives you like a blurry view of the world that goes on and you can relax behind that and find a way to explore things in a funny way or an interesting way, but you can also go really close into the subject and then you've got to deal with the things that are painful and the things that are difficult and the things that have had an impact.    But, because you've got that tool and you're used to using it or you're familiar with using it, it then gives you that safety. That's how I felt about it anyway, it was a massive tool to be able to get behind all of these things that I didn't even know I was feeling, or I knew they were making me uncomfortable, but I didn't know what they were or what name to give them. So the poetry gave us a chance to get behind all of that. Having read the poems, it feels like it's that for everybody but obviously you'd have to speak to them to know, but it certainly felt like that for me.  Natalie: And, Rich, your perspective.  What are you taking forward from the project, so what would your sort of key takeaway be?  Rich: I think it shows what is possible under that PPIE acronym. And there are many ways to do that involvement and engagement, it doesn't have to be a sort of dry tick-box exercise, there are much more creative ways to bring people's lived experiences and perspectives into conversations with genomics. So really, I suppose it's a call for other people to explore working in this way as well and think about what other kind of creative outputs could work here. I mean, we've had huge success, and I think a really interesting impact from working in this way.    And certainly as an early career researcher it's been really formative in my sort of academic journey, you know, reaffirmed that this is the kind of work that I want to do, working in this really co-productive way. And I think it's possible, it can be done, and, you know, ultimately it's just been a real privilege to do this kind of research, to sort of be trusted to sort of hold a space together for sharing people's stories and give people a platform to share some really powerful profound stories. And going back to what Paul was saying earlier, I think he hit the nail on the head, as he very often does, this is about evoking people's experiences, not just explaining people's experiences, and allowing those stories to travel.  And we don't know where stories will travel, we don't know how stories will travel, we don't know how stories will be received, but we know that they do sort of travel and they do have legacy and they stay memorable to people, they have emotional resonance. So, the impact of this work can often be hard to sort of pin down really specifically, but we know those stories are out there and people are listening and changing their practice as a result.  Natalie: We'll wrap up there. I'd like to thank our guests, Paul Arvidson, Professor Bobbie Farsides and Dr Rich Gorman, for joining me today as we discuss the EPPiGen Project. We heard some powerful insights from patients and families about their experiences, and why ethical preparedness is so important in the context of genomic medicine. If you would 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, Natalie Banner. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand. 

Oncotarget
New Insights into p53: A Powerful Gene's Role in Cancer Therapy

Oncotarget

Play Episode Listen Later Apr 22, 2025 7:01


A new study from the Sidney Kimmel Comprehensive Cancer Center and Johns Hopkins University School of Medicine, published in Oncotarget, reveals that the gene p53, long known as the “guardian of the genome,” may be even more powerful than previously thought. By studying it in non-cancerous human cells, researchers discovered how p53 stops risky cell growth and uncovered two new potential targets for cancer therapy. Understanding p53: The Genome's Guardian Against Cancer The p53 gene is one of the most important natural defenses our body has against cancer. When functioning properly, p53 detects damage in a cell's DNA and either stops the cell from dividing or pushes it to self-destruct. This process helps prevent potentially dangerous mutations from spreading. However, many cancers find ways to silence or mutate p53, allowing uncontrolled growth and resistance to treatments. Studying p53 in a clear and accurate way has long been a challenge. Most cancer cell models used in research already carry numerous genetic mutations, which can mask or alter how p53 truly functions. To fully understand this vital tumor-suppressing gene, scientists needed a model that closely resembled healthy, genetically stable human cells—yet could still be maintained and studied over time in the laboratory. The Study: Exploring p53 in Normal and Cancer Cell Models Researchers Jessica J. Miciak, Lucy Petrova, Rhythm Sajwan, Aditya Pandya, Mikayla Deckard, Andrew J. Munoz, and Fred Bunz explored p53 activity using a uniquely suitable cell line: hTERT-RPE1. These non-cancerous human cells are immortalized using telomerase, meaning they continue dividing like cancer cells, but without the chaotic mutations seen in tumors. This makes them an excellent model for studying how p53 operates in near-normal conditions. Full blog - https://www.oncotarget.org/2025/04/22/new-insights-into-p53-a-powerful-genes-role-in-cancer-therapy/ Paper DOI - https://doi.org/10.18632/oncotarget.28690 Correspondence to - Fred Bunz - fredbunz@jhmi.edu Video short - https://www.youtube.com/watch?v=Psxj3ctbTuk Sign up for free Altmetric alerts about this article - https://oncotarget.altmetric.com/details/email_updates?id=10.18632%2Foncotarget.28690 Subscribe for free publication alerts from Oncotarget - https://www.oncotarget.com/subscribe/ Keywords - cancer, p53, ionizing radiation, immortalized cells, ALDH3A1, NECTIN4 About Oncotarget Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking different fields of oncology, cancer research and biomedical sciences; and foster application of basic and clinical science. Oncotarget is indexed and archived by PubMed/Medline, PubMed Central, Scopus, EMBASE, META (Chan Zuckerberg Initiative) (2018-2022), and Dimensions (Digital Science). To learn more about Oncotarget, please visit https://www.oncotarget.com and connect with us: Facebook - https://www.facebook.com/Oncotarget/ X - https://twitter.com/oncotarget Instagram - https://www.instagram.com/oncotargetjrnl/ YouTube - https://www.youtube.com/@OncotargetJournal LinkedIn - https://www.linkedin.com/company/oncotarget Pinterest - https://www.pinterest.com/oncotarget/ Reddit - https://www.reddit.com/user/Oncotarget/ Spotify - https://open.spotify.com/show/0gRwT6BqYWJzxzmjPJwtVh MEDIA@IMPACTJOURNALS.COM

Nature Podcast
What a trove of potato genomes reveals about the humble spud

Nature Podcast

Play Episode Listen Later Apr 16, 2025 32:41


In this episode:00:46 A potato pangenomeResearchers have created a ‘pangenome' containing the genomes of multiple potato types, something they believe can help make it easier to breed and sequence new varieties. The potato's complicated genetics has made it difficult to sequence the plant's genome, but improvements in technology have allowed the team to combine sequences, allowing then to look for subtle differences in between varieties.Research Article: Sun et al.09:57 Research HighlightsHow ancient DNA analysis revealed that unusually bound medieval books are covered in sealskin, and top quarks and their antimatter counterparts are detected after nuclear smash-ups at the Large Hadron Collider.Research Highlight: Mystery of medieval manuscripts revealed by ancient DNAResearch Highlight: Top quarks spotted at mega-detector could reveal clues to early Universe12:30 The top cited twenty-first century research papersAnalysis from Nature reveals the 25 highest-cited papers published this century and explores why they are breaking records. We hear about the field that got the highest number of papers on the list, and whether any feature in the all-time top citation list.News Feature: Exclusive: the most-cited papers of the twenty-first centuryNews Feature: These are the most-cited research papers of all timeNews Feature: Science's golden oldies: the decades-old research papers still heavily cited today21:47 Briefing ChatRe-analysis of a cosmic collision shows evidence of a planet spiralling into its host star, and how shrugging off lighting strikes gives tonka bean trees an evolutionary edge.Science: Astronomers spot a planetary ‘suicide'Live Science: Tropical tree in Panama has evolved to kill its 'enemies' with lightningVote for us in this year's Webby AwardsVote for How whales sing without drowning, an anatomical mystery solvedVote for What's in a name: Should offensive species names be changed? The organisms that honour dictators, racists and criminalsVote for Cancer-busting vaccines are coming: here's how they work Hosted on Acast. See acast.com/privacy for more information.

Colloques du Collège de France - Collège de France
Colloque - Ana Pombo : Variations in 3D Genome Structure Between Cell Types and in Stimulus Responses

Colloques du Collège de France - Collège de France

Play Episode Listen Later Apr 11, 2025 31:49


Denis DubouleCollège de FranceÉvolution du développement et des génomesAnnée 2024-2025Enhancers Sequences and Gene RegulationColloque - Ana Pombo : Variations in 3D Genome Structure Between Cell Types and in Stimulus ResponsesAna PomboMax-Delbrück-Centrum for Molecular Medicine, Berlin, Germany

Colloques du Collège de France - Collège de France
Colloque - Duncan Odom : Mechanisms of Mammalian Genome Control and Evolution

Colloques du Collège de France - Collège de France

Play Episode Listen Later Apr 11, 2025 24:08


Denis DubouleCollège de FranceÉvolution du développement et des génomesAnnée 2024-2025Enhancers Sequences and Gene RegulationColloque - Duncan Odom : Mechanisms of Mammalian Genome Control and EvolutionDuncan OdomDKFZ, Division of Regulatory Genomics and Cancer Evolution, Heidelberg, Germany

Colloques du Collège de France - Collège de France
Colloque - Wendy Bickmore : Role of the 3D Genome in Enhancer Driven Gene Regulation

Colloques du Collège de France - Collège de France

Play Episode Listen Later Apr 11, 2025 29:29


Denis DubouleCollège de FranceÉvolution du développement et des génomesAnnée 2024-2025Enhancers Sequences and Gene RegulationColloque - Wendy Bickmore : Role of the 3D Genome in Enhancer Driven Gene RegulationWendy BickmoreMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Scotland

Nature Podcast
Long-awaited ape genomes give new insights into their evolution — and ours

Nature Podcast

Play Episode Listen Later Apr 9, 2025 29:48


00:46 Complete sequencing of ape genomesResearchers have sequenced the complete genomes of six ape species, helping uncover the evolutionary history of our closest relatives and offering insights into what makes humans human. The genomes of chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang have been sequenced end-to-end, filling in gaps that have long eluded researchers.Research Article: Yoo et al.News: What makes us human? Milestone ape genomes promise clues08:47 Research HighlightsHow sunflower stars are evading a mysterious epidemic, and how solar panels made of moon dust could power lunar bases.Research Highlight: Revealed: where rare and giant starfish hide from an enigmatic killerResearch Highlight: Solar cells made of Moon dust could power up a lunar base11:36 How to make a competitive laser-plasma acceleratorAfter decades of research, physicists have demonstrated that, in principle, an alternative kind of particle accelerator can work just as well as more conventional designs. Many particle accelerators that power huge experiments like the Large Hadron Collider at CERN are radio-frequency accelerators, but they are large and limited in how strong their magnetic fields can be. The new work shows that accelerators that instead use plasma to accelerate particles could be a viable alternative and could be built at much smaller scales.Research article: Winkler et al.19:55 Briefing ChatA drug that makes blood poisonous to mosquitoes, and how an AI worked out how to solve key challenges in Minecraft by ‘imagining' solutions.Science Alert: Drug For Rare Disease Turns Human Blood Into Mosquito PoisonNature: AI masters Minecraft: DeepMind program finds diamonds without being taughtVote for us in this year's Webby AwardsVote for How whales sing without drowning, an anatomical mystery solvedVote for What's in a name: Should offensive species names be changed? The organisms that honour dictators, racists and criminalsSubscribe to Nature Briefing, an unmissable daily round-up of science news, opinion and analysis free in your inbox every weekday. Hosted on Acast. See acast.com/privacy for more information.

FYI - For Your Innovation
Breaking The $100 Genome Barrier: How Ultima Genomics Is Revolutionizing DNA Sequencing With Gilad Almogy

FYI - For Your Innovation

Play Episode Listen Later Apr 3, 2025 57:45


DNA sequencing is on the cusp of a major transformation, and Gilad Almogy, CEO of Ultima Genomics, is leading the charge. In this episode of FYI, ARK's Chief Futurist, Brett Winton, and Multiomics analyst Nemo Despot explore how Ultima is making whole-genome sequencing radically cheaper—driving costs down from $1,000 to just $80 per genome, with ambitions for even further reductions. Gilad shares how his background in semiconductors shaped Ultima's innovative approach, which relies on cost-efficient silicon wafers and high-throughput sequencing. The conversation also dives into the massive potential applications for low-cost sequencing, from cancer diagnostics and population genomics to AI-driven drug discovery.Key Points From This Episode:How Ultima Genomics' unique approach is slashing sequencing costsThe growing role of AI in understanding biologyWhy sequencing demand is highly elastic—cheaper data unlocks new applicationsThe future of personalized medicine and real-time cancer detectionHow population-scale genomics will transform healthcare

Raise the Line
Helping All Medical Providers Understand Genomic Testing: Dr. Ethylin Wang Jabs, Mayo Clinic and Dr. Antonie Kline, Harvey Institute for Human Genetics

Raise the Line

Play Episode Listen Later Mar 20, 2025 16:06


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

The G Word
Vivienne Parry, Alice Tuff-Lacey, Dalia Kasperaviciute and Kerry Leeson Bevers: What can we learn from the Generation Study?

The G Word

Play Episode Listen Later Mar 19, 2025 34:03


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.  

The Cannabis Connection
Al Bundi - Cannabis Genome Research 03/14/2025

The Cannabis Connection

Play Episode Listen Later Mar 17, 2025 35:14


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.

The Science Show -  Separate stories podcast
Your genome is important, so too is your exposome!

The Science Show - Separate stories podcast

Play Episode Listen Later Mar 15, 2025 10:08


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.

Chatter that Matters
Dr. Anmol Kapoor - Be the CEO of your Health

Chatter that Matters

Play Episode Listen Later Mar 13, 2025 35:31 Transcription Available


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/    

Curiosity Daily
Name That Cell, Ancient Genomes, Cell-Cultured Salmon

Curiosity Daily

Play Episode Listen Later Mar 12, 2025 29:20


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.

Public Service Announcement with Dr. James E.K. Hildreth
Rebuilding Trust in Healthcare: One Sequenced Genome at a Time

Public Service Announcement with Dr. James E.K. Hildreth

Play Episode Listen Later Mar 12, 2025 29:17


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.

Intelligent Design the Future
Richard Sternberg on the Information Beyond the Genome

Intelligent Design the Future

Play Episode Listen Later Mar 7, 2025 22:59


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

Discovery Institute's Podcast
Richard Sternberg on the Information Beyond the Genome

Discovery Institute's Podcast

Play Episode Listen Later Mar 7, 2025 22:59


Ducks Unlimited Podcast
Ep. 663 - Amazing Hybrids from duckDNA, Season 2

Ducks Unlimited Podcast

Play Episode Listen Later Mar 6, 2025 61:09


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

Intelligent Design the Future
Chimp and Human Genomes: An Evolution Myth Unravels

Intelligent Design the Future

Play Episode Listen Later Feb 28, 2025 29:47


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

Discovery Institute's Podcast
Chimp and Human Genomes: An Evolution Myth Unravels

Discovery Institute's Podcast

Play Episode Listen Later Feb 28, 2025 29:47


This Week in Evolution
TWiEVO 111: Copy that, genome

This Week in Evolution

Play Episode Listen Later Feb 26, 2025 86:51


Nels and Vincent explain how template switching during DNA replication is a widespread source of adaptive gene amplification. Hosts: Nels Elde and Vincent Racaniello Subscribe (free): Apple Podcasts, RSS, email Become a patron of TWiEVO Links for this episode Join the MicrobeTV Discord server Template switching and gene amplification (eLife) Timestamps by Jolene Science Picks Nels – Jeremy Berg on Bluesky – jeremymberg.bsky.social Vincent – Dickson Despommier, 84 Music on TWiEVO is performed by Trampled by Turtles Send your evolution questions and comments to twievo@microbe.tv

The G Word
Dr Ana Lisa Tavares, Anne Lennox, Dr Meriel McEntagart, Dr Carlo Rinaldi: Can patient collaboration shape the future of therapies for rare conditions?

The G Word

Play Episode Listen Later Feb 26, 2025 46:08


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 Defense of Plants Podcast
Ep. 513 - The Enigma of the Galax Genome

In Defense of Plants Podcast

Play Episode Listen Later Feb 16, 2025 45:08


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.

Epigenetics Podcast
Polycomb Proteins, Gene Regulation, and Genome Organization in Drosophila (Giacomo Cavalli)

Epigenetics Podcast

Play Episode Listen Later Feb 13, 2025 44:19


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

Limitless Mindset
Biohacking Baby-Making: Decode Your Genome with Personal Genotyping for Precision Fertility Optimization

Limitless Mindset

Play Episode Listen Later Feb 9, 2025 67:05


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

Science Friday
Strain Of Bird Flu Discovered In California | Understanding Bipolar Disorder Through The Genome

Science Friday

Play Episode Listen Later Jan 31, 2025 24:21


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.

The Dissenter
#1050 David Henshall - Fine-Tuning Life: A Guide to MicroRNAs, Your Genome's Master Regulators

The Dissenter

Play Episode Listen Later Jan 24, 2025 63:11


******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!

Epigenetics Podcast
The Interplay of Nutrition, Metabolic Pathways, and Epigenetic Regulation (Ferdinand von Meyenn)

Epigenetics Podcast

Play Episode Listen Later Jan 23, 2025 48:05


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

3 Things
Toxic waste moved after 40 years, Genome India Initiative, and new Navy combatants

3 Things

Play Episode Listen Later Jan 16, 2025 25:56


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

Big Picture Science
The Ocean's Genome

Big Picture Science

Play Episode Listen Later Jan 13, 2025 54:00


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

Perfect English Podcast
Genome Sequencing: Unlocking the Secrets of Life

Perfect English Podcast

Play Episode Listen Later Jan 13, 2025 8:59


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

G Talks!
Gulnihal - gtalks! radio w/ DJ BAADAAM

G Talks!

Play Episode Listen Later Jan 7, 2025 53:25


#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

Kingdom Builders
Unlocking Healing: Genome vs. Deliverance

Kingdom Builders

Play Episode Listen Later Jan 5, 2025 40:28


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.

Autism Parenting Secrets
Sequence The WHOLE Genome

Autism Parenting Secrets

Play Episode Listen Later Jan 2, 2025 39:48


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.

Planet Homemaking
Episode 851 – Gene Key 59: The Dragon in Your Genome

Planet Homemaking

Play Episode Listen Later Dec 29, 2024 62:42


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.

Someone Is Killing The Wolfhounds
A Killer Strikes At Random In... The Genome Killer, The Next Thriller Audio Drama From Voyage Media

Someone Is Killing The Wolfhounds

Play Episode Listen Later Dec 10, 2024 1:53


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

Enemy Within
It's In Your Water... In The Next Horror Thriller Audio Drama From Voyage Media, The Genome Killer

Enemy Within

Play Episode Listen Later Dec 10, 2024 1:53


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

Bob Enyart Live
Evolution's Big Squeeze

Bob Enyart Live

Play Episode Listen Later Nov 21, 2024


* 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

america god jesus christ university california head canada black world australia lord europe israel earth uk china science bible men future space land living new york times professor nature africa european arizona green evolution search dna mind mit medicine universe study mars san diego jewish table bbc harvard nasa turkey cnn journal natural human sun color jews theory prof tree alaska hebrews fruit oxford caribbean independent plant millions worse mass npr scientists abortion genius trees cambridge pacific complex flowers egyptian ancient conservatives shocking surprising grandma dust dinosaurs hebrew whales neuroscience mat butterflies relevant new world turtles claims sanders resource constant rapid needless national geographic new york university protein evolve morocco queensland babel financial times wing legs graves hades grandpa absence infants west africa levy 100m skull ham big bang american association squeeze middle eastern grants knees smithsonian astronomy mice toes uv levine std observing shoulders middle ages homo tb east africa calif fahrenheit galileo philistines biochemistry mutation charles darwin evo rna evolutionary erwin book of mormon fossil american indian lds univ arabs neanderthals jellyfish american journal crete mesopotamia 3b proceedings insect traces 500m fungus afp clarification levites beetle great barrier reef genome pritchard sponge faint piranhas molecular biology cohn uranium mantis uc santa barbara acs fossils galaxies syrians shem correspondence primitive show updates university college parrots darwinism natural history museum darwinian squeezing analyses brun camouflage clusters new scientist potassium kagan fixation kohn galapagos islands expires levinson hand washing smithsonian magazine of mice cowen ubiquitous french alps eon oregon health science university kogan aristotelian human genome project quotations pop goes cretaceous sponges calibrating cambrian astrobiology cmi pnas brian thomas harkins soft tissue journalcode human genome spores semites science advances science daily phys biomedical research radioactivity harkin current biology finches researches ignaz semmelweis cng blubber redirectedfrom mammalian evolutionists mycobacterium ancient dna rsr icr australopithecus see dr semmelweis myr cambrian explosion stephen jay gould make this stuff up analytical chemistry cephalopod darwinists trilobites sciencealert bobe antarctic peninsula royal society b dravidian degnan y chromosome nature genetics mtdna nature ecology whitehead institute peking man arthropod intelligent designer technical institute these jews haemoglobin eukaryotes eocene hadean physical anthropology haifa israel mitochondrial eve neo darwinism enyart jonathan park walt brown japeth early cretaceous hadrosaur palaeozoic ann gibbons dna mtdna jenny graves maynard-smith physical anthropologists real science radio human genetics program kenneth s kosik kgov
KONCRETE Podcast
#270 - DNA Expert Warns of Mysterious New 'Turbo Cancer' Outbreak | Kevin McKernan

KONCRETE Podcast

Play Episode Listen Later Nov 18, 2024 157:33


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

Health Freedom for Humanity Podcast
Ep 130: Rethinking DNA: Examining the Evidence with Dr. Tom Cowan

Health Freedom for Humanity Podcast

Play Episode Listen Later Nov 13, 2024 72:47


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

People Behind the Science Podcast - Stories from Scientists about Science, Life, Research, and Science Careers
784: In Her Element Examining Mobile DNA Sequences and Genome Evolution - Dr. Susan Wessler

People Behind the Science Podcast - Stories from Scientists about Science, Life, Research, and Science Careers

Play Episode Listen Later Oct 28, 2024 46:39


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.

Passion Struck with John R. Miles
Michael Marquardt on Breakthroughs in Early Cancer Detection EP 497

Passion Struck with John R. Miles

Play Episode Listen Later Aug 22, 2024 62:27


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!