Podcasts about Genomics

Discipline in genetics

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Best podcasts about Genomics

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Latest podcast episodes about Genomics

The Human Upgrade with Dave Asprey
Why Are Hackers Microdosing “Sex Drugs” Now? : 1425

The Human Upgrade with Dave Asprey

Play Episode Listen Later Mar 3, 2026 53:16


Most doctors treat the average patient. But you are not average, and this episode gives you the precision medicine blueprint to treat yourself like the individual you are, using multi-omic testing, biohacking technology, and longevity science to optimize every layer of your biology. -Watch this episode on YouTube for the full video experience: https://www.youtube.com/@DaveAspreyBPR Host Dave Asprey sits down with Dr. Anil Bajnath, a Board-Certified Family Physician, author of The Longevity Equation, and President and Founder of the American Board of Precision Medicine. He serves as Adjunct Professor at the George Washington University School of Medicine and CEO of the Institute for Human Optimization. Dr. Bajnath is certified through the Institute for Functional Medicine, board certified in anti-aging and regenerative medicine, and is one of the few clinicians actively applying genomics, transcriptomics, proteomics, and epigenetics together in a real clinical practice. Together, Dave and Dr. Bajnath break down why population-based medicine fails individuals, how functional medicine and precision science combine to unlock real human performance, and why your mitochondria sit at the foundation of every longevity strategy worth pursuing. They dig into how AI can help you decode your own inflammasome biology, why biohackers are using “sex drugs” to extend longevity, why vagal nerve stimulation directly suppresses the NLRP3 inflammasome, and which biomarkers like MMP9 and homocysteine mainstream medicine keeps ignoring. They also cover peptides, supplements, the dark side of metformin, microdosing for anti-aging, and why biohacking works best when it's personalized and precise. This is essential listening for anyone serious about longevity, smarter not harder health strategies, metabolism, sleep optimization, brain optimization, functional medicine, and taking full control of their biology. You'll Learn: Why precision medicine outperforms population-based health strategies for human performance How to layer genomics, transcriptomics, and proteomics into one complete biological picture Which longevity biomarkers your doctor is likely ignoring, including MMP9 and homocysteine How vagal nerve stimulation suppresses the NLRP3 inflammasome and drives anti-aging benefits The real story on metformin, peptides, and which supplements actually move the needle How AI can help you understand your own biology and act on it faster Why biohacking precision beats random stacking every time Thank you to our sponsors! • Igniton | Head over to Igniton.com and use code DAVE for an exclusive 15% off your first order. • BEYOND Biohacking Conference 2026 | Register with code DAVE300 for $300 off https://beyondconference.com • Caldera + Lab | Go to https://calderalab.com/DAVE and use code DAVE at checkout for 20% off your first order. • Screenfit | Get your at-home eye training program for 40% off using code DAVE at https://www.screenfit.com/dave. Dave Asprey is a four-time New York Times bestselling author, founder of Bulletproof Coffee, and the father of biohacking. With over 1,000 interviews and 1 million monthly listeners, The Human Upgrade brings you the knowledge to take control of your biology, extend your longevity, and optimize every system in your body and mind. Each episode delivers cutting-edge insights in health, performance, neuroscience, supplements, nutrition, biohacking, emotional intelligence, and conscious living. New episodes are released every Tuesday, Thursday, Friday, and Sunday (BONUS). Dave asks the questions no one else will and gives you real tools to become stronger, smarter, and more resilient. Keywords: precision medicine, biohacking, Dave Asprey Cialis, Anil Bajnath, American Board of Precision Medicine, multi-omics, genomics, transcriptomics, proteomics, epigenetics, NLRP3 inflammasome, vagal nerve stimulation, MMP9, homocysteine, mitochondria, longevity, anti-aging, peptides, BPC-157, metformin, rapamycin, functional medicine, human performance, supplements, EGCG, exposome, nitric oxide, vascular health, metabolism, brain optimization, AI health, biohacking technology, Dave Asprey Sex Drugs Resources: • Learn More About Anil's Work And the Institute For Human Optimization At: https://ifho.org/ • Get My 2026 Clean Nicotine Roadmap | Enroll for free at https://daveasprey.com/2026-clean-nicotine-roadmap/ • Dave Asprey's Latest News | Go to https://daveasprey.com/ to join Inside Track today. • Danger Coffee: https://dangercoffee.com/discount/dave15 • My Daily Supplements: SuppGrade Labs (15% Off) • Favorite Blue Light Blocking Glasses: TrueDark (15% Off) • Dave Asprey's BEYOND Conference: https://beyondconference.com • Dave Asprey's New Book – Heavily Meditated: https://daveasprey.com/heavily-meditated • Join My Substack (Live Access To Podcast Recordings): https://substack.daveasprey.com/ • Upgrade Labs: https://upgradelabs.com Timestamps: 00:00 – Trailer 00:53 – Intro to Precision Medicine 01:58 – Dr. Bajnath's Holistic Health Journey 05:03 – Pharmaceuticals vs. Supplements 07:58 – Peptides and Longevity Molecules 10:34 – Sexual Health and Vitality 13:56 – Vascular Health and Blood Flow 15:14 – Multi-Omics Approach 19:03 – DNA and Genomics 22:17 – Transcriptomics and RNA 24:24 – Proteomics and Inflammation Markers 32:00 – The Human Exposome 34:55 – Key Health Biomarkers 36:58 – Cell Membrane Dynamics 40:28 – Biological Investment Strategy 41:53 – Life Extension Possibilities 48:52 – Bioenergetics and Mitochondria 49:47 – Quantum Medicine and the Future 51:33 – Vagal Nerve Stimulation See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

OffScrip with Matthew Zachary
STEMM Cells and Broken Bones

OffScrip with Matthew Zachary

Play Episode Listen Later Mar 3, 2026 47:03


Dr Eugene Manley grew up in Detroit in the 1980s cycling through emergency rooms 20 to 30 times a year with asthma and anaphylaxis while hospital staff talked past his family and buried them in paperwork they could not decode. He responded by earning a BS in mechanical engineering an MS in biomedical engineering and a PhD in molecular biology cell biology and biochemistry. Along the way he tore his ACL training for a jiu jitsu black belt worked 86 straight days in a lab during his doctorate and learned how academic and clinical systems punish people who refuse to shrink.In this episode Manley walks through a recent post surgery ordeal at Mount Sinai Queens where staff falsified records attempted an illegal discharge and nearly sent him home on the wrong blood thinner. He explains how medical racism shows up in charts staffing and decision making and why measurable equity fails without accountability. Listeners hear how his STEMM and Cancer Health Equity Foundation builds pipelines for underrepresented students challenges clinical trial design and teaches patients how to protect themselves when institutions lie. RELATED LINKS• Eugene Manley Jr• STEMM and Cancer Health Equity Foundation• Village Voice• LUNGevity FoundationFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Talk Nerdy with Cara Santa Maria
Social Genomics w/ Daphne O. Martschenko

Talk Nerdy with Cara Santa Maria

Play Episode Listen Later Mar 2, 2026 66:12 Transcription Available


In this episode of Talk Nerdy, Cara is joined by Bioethicist and Assistant Professor of Pediatrics at Stanford University, Dr. Daphne O. Martschenko. They discuss her book, What We Inherit: How New Technologies and Old Myths Are Shaping Our Genomic Future. Follow Daphne: @daphmarts  

The Immunology Podcast
Ep. 125: “Single-Cell Genomics” Featuring Dr. Ido Amit

The Immunology Podcast

Play Episode Listen Later Feb 25, 2026 77:37


Guest: Dr. Ido Amit is a Principal Investigator and the Eden and Steven Romick Professorial Chair at the Weizmann Institute of Science. His lab is at the forefront of developing and applying cutting-edge single-cell genomics technologies alongside advanced computational approaches. By integrating these innovative tools in both animal models and human studies, his team uncovers the immune regulatory mechanisms and pathways that shape health and disease. Featured Products and Resources: Stay up-to-date with the latest in human immunology news. Download a free wallchart on the production of CAR T cells. The Immunology Science Round Up Modified RNA Prevents Autoimmunity – Researchers show that modified RNA from our own cells naturally blocks TLR7 and TLR8, preventing harmful immune activation. Oncolytic Virus Boosts T Cells – In glioblastoma patients, a single virus treatment helped the immune system attack the tumor. Rewiring the Immune System During Food Scarcity – When food is scarce, stress hormones rebalance the immune system to fight infection while conserving glucose and preserving immune memory. Regulating Bystander T Cells – IL-4 can dial down how strongly memory CD8+ T cells respond to infection without direct antigen stimulation. Image courtesy of Dr. Ido Amit Subscribe to our newsletter! Never miss updates about new episodes. Subscribe

Tomorrow's Cure
Shortening the Diagnostic Journey: Genomics for Every Child

Tomorrow's Cure

Play Episode Listen Later Feb 25, 2026 41:22


When a child is critically ill and answers are elusive, every day can feel like an eternity. This week on Tomorrow's Cure from Mayo Clinic, host Cathy Wurzer talks with pediatric geneticist Whitney Thompson, M.D., from Mayo Clinic, genomic medicine pioneer Stephen Kingsmore, M.D., DSc, from Rady Children's Institute for Genomic Medicine, and Sean George, Ph.D., CEO of Inflection Medicine, about how rapid whole genome sequencing is transforming care for the youngest patients. Together, they explore how clinicians are shortening the “diagnostic odyssey,” pairing sequencing with artificial intelligence to identify potential treatments, and redefining what is possible for rare diseases through programs like Mayo Clinic Children's BabyFORce. You will also hear powerful patient stories, including children whose lives changed after a genomic diagnosis opened the door to targeted therapies, and a candid discussion about cost, access, and ethics as this technology moves toward wider adoption. Tune in to learn how today's breakthroughs in pediatric genomics could shape the future of medicine for all of us. How to listen and stay connected:• Subscribe to Tomorrow's Cure on your favorite podcast app and follow the show so you never miss an episode.• Get the latest health information from Mayo Clinic's experts—subscribe to Mayo Clinic's newsletter for free today: ⁠https://mayocl.in/3EcNPNc⁠ Connect with Mayo Clinic:• Like Mayo Clinic on Facebook: https://www.facebook.com/mayoclinic/⁠Follow • Mayo Clinic on Instagram: ⁠https://www.instagram.com/mayoclinic/⁠Follow • Mayo Clinic on X (formerly Twitter): ⁠https://x.com/MayoClinic⁠Follow • Mayo Clinic on Threads: ⁠https://www.threads.net/@mayoclinic

The EMJ Podcast: Insights For Healthcare Professionals
Hema Now: Scaling Precision Medicine in Blood Cancer Care

The EMJ Podcast: Insights For Healthcare Professionals

Play Episode Listen Later Feb 25, 2026 38:47


In this episode of Hema Now, Anna Schuh discusses the evolution of precision medicine in haematology. From her early inspiration to pursue haematology to her pioneering work in chronic lymphocytic leukaemia, she reflects on how whole genome sequencing, single-cell technologies, and circulating tumour DNA are transforming risk prediction and treatment strategies.   Timestamps:   00:00 – Introduction  02:20 – What drew Anna to haematology  03:57 – Chronic lymphocytic leukaemia  08:55 – Genomics reshaping high risk chronic lymphocytic leukaemia  12:19 – OxPLoreD and STELLAR aims  15:52 – Liquid biopsies  19:56 – Global diagnostics implementation challenges  25:57 – Integrating molecular testing clinically  29:20 – Training future precision leaders  33:51 – Next breakthroughs in precision haematology  35:35 – Three magic wishes 

OffScrip with Matthew Zachary
Callus on Your Soul: Jenny Opalinski

OffScrip with Matthew Zachary

Play Episode Listen Later Feb 24, 2026 40:12


Jenny Opalinski has spent more than a decade inside hospitals where people lose the ability to speak, breathe, swallow, and sometimes survive. A medical speech language pathologist by training, she worked in ICU, neuro rehab, and long term acute care settings, including a Level 1 trauma center, where she watched clinicians absorb 10 to 15 traumatic events in a single shift and then get told to move the crash cart faster next time.That lived reality pushed her to co found The Wellness Shift, an advocacy and education platform focused on healthcare worker burnout, suicide, and assault. In this conversation, Opalinski walks through the moment that changed everything for her: standing in a hospital hallway listening to a family wail after a failed code, followed by a debrief that addressed logistics and ignored grief entirely.She also explains how that work led to Humanity Rx, her podcast about the human cost of medicine, and Dragon's Breath: Calming Tricks for Big Feelings, a children's book that translates evidence based breathing and regulation strategies into language kids can actually use. The episode covers moral injury, time scarcity, false wellness, respiratory muscle training, and why empathy keeps getting treated as an optional expense instead of clinical infrastructure.RELATED LINKSJenny Opalinski on LinkedInThe Wellness ShiftHumanity RxDragon's Breath: Calming Tricks for Big FeelingsAspire Respiratory ProductsFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Kingscrowd Startup Investing Podcast
From 7 Years to 12 Weeks: Sunstone Health's AI for Epilepsy & Autism

Kingscrowd Startup Investing Podcast

Play Episode Listen Later Feb 19, 2026 29:21


Sunstone Health CEO Joshua Resnikoff joins Chris Lustrino to explain how Sunstone uses AI on healthcare claims data to proactively identify children with developmental delay—starting with epilepsy and autism—and help families reach the right specialists and diagnostics faster.They break down what claims data is, why the healthcare system is reactive by default, and how Sunstone's approach can compress what often takes years into roughly weeks by flagging high-need cases, coordinating advanced diagnostics, and delivering actionable next steps. Joshua also shares Sunstone's go-to-market strategy (positioned as an employer-paid benefit), why the pricing model is designed to reduce “point-solution bloat,” and how expansion could move across employers, TPAs, reinsurers, and large insurers. 00:00 Needle-in-a-haystack intro03:13 What Sunstone does (AI + claims data)05:32 Flagging patients vs. diagnosing07:21 Employer benefit + privacy model15:54 GTM + sales cycle reality17:57 Outcome-based pricing model20:16 Unit economics ($10k per case)22:11 Expansion paths + other diseases26:23 Fundraise use of proceeds28:03 Investor closing

OffScrip with Matthew Zachary
Reclaiming the Vowels: Sarah Gromko

OffScrip with Matthew Zachary

Play Episode Listen Later Feb 17, 2026 38:16


Sarah Gromko and Matthew Zachary go back to SUNY Binghamton in the early 1990s, when they were barely 19 and living inside rehearsal rooms. She starred in campus musical theater productions. He served as pianist and music director for many of those shows and played rehearsal piano for the THEA101 repertory company. This episode reunites two former theater nerds who grew up and took very different paths through art, illness, and work that still circles the same truth.Gromko trained as a singer and composer, studied film scoring at Berklee College of Music, worked in New York and New Orleans, then moved into healthcare as a speech language pathologist and recognized vocologist. She explains aphasia, apraxia, dysarthria, and dysphagia with clarity earned from the clinic. She recounts helping a 16 year old gunshot survivor in New Orleans speak again using Melodic Intonation Therapy. The conversation covers voice banking for ALS, gender affirming voice care, and the damage caused when medicine confuses speech loss with intelligence loss. The result feels like an epic reunion powered by 1990s nostalgia and sharpened by decades of lived consequence.RELATED LINKSSarah GromkoGramco VoiceMelodic Intonation TherapyFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

The Smart Nutrition, Made Simple Show with Ben Brown
Why GLP's Work…Until They Don't

The Smart Nutrition, Made Simple Show with Ben Brown

Play Episode Listen Later Feb 17, 2026 53:31


What if your breakthrough isn't another supplement or hormone protocol, but a personalized understanding of what's actually driving your results?In this episode of the Smart Nutrition Made Simple Show, I talk with Brad Clifford, founder and CEO of ELEVÉTION Health, a concierge performance company built around genomics, advanced blood work, and cellular health. Brad shares how he went from panic attacks and brain fog to rebuilding his health from the cellular level up.We break down the two-pronged nature of health, psychological and physiological, why sleep is the ultimate force multiplier, and why no supplement, peptide, or TRT protocol can replace foundational habits. We also dive into metabolic flexibility, mitochondrial health, GLP-1 drugs, and why most people regain the weight when they come off them.Tune in now to build a smarter, more sustainable strategy for long-term performance and longevity.Timestamps:00:00 – Why GLP-1 Drugs Feel So Powerful 01:44 – Episode Intro 03:26 – Who Is Brad Clifford? 07:03 – The Two Prongs of Health 08:25 – Sleep, Nutrition & Exercise Foundations 12:25 – Brad's Health Struggles & Panic Attacks 15:30 – Genomics & Brain Chemistry 21:44 – How Elevation Differs from Typical Clinics 24:41 – Why “Stacks” Don't Work 28:30 – Mitochondria & NAD 31:51 – Metabolic Flexibility 34:52 – Carnivore & Long-Term Tradeoffs 39:27 – Addition by Subtraction 40:00 – Sleep & Injury Risk 41:30 – Psychology of Transformation 43:00 – GLP-1 Weight Regain 46:17 – Future Casting & Identity 51:05 – UK Expansion 52:01 – Where to ConnectConnect with Brad CliffordWebsite: https://www.elevetion.comInstagram (Elevation): https://www.instagram.com/elevetionhealth/Instagram (Brad): https://www.instagram.com/brad_cliffordLinks & Resources:Connect with Ben on Instagram: https://www.instagram.com/bodysystemscoaching/Learn more about Ben's coaching program: www.bodysystems.comSubscribe to the Smart Nutrition Made Simple Show on Apple Podcasts -

DocPreneur Leadership Podcast
How genomics is reshaping concierge medicine

DocPreneur Leadership Podcast

Play Episode Listen Later Feb 16, 2026 39:35


Our guest, CEO, Premal Shah, Ph.D. of MyOme, a precision health company using whole-genome sequencing to make proactive, personalized care accessible through leading concierge and executive health clinics. Topic: How top-tier clinics are using MyOme's whole-genome platform to differentiate their care model, strengthen prevention programs, and build long-term patient trust. Learn More At: MyOme.com

Head Shepherd
Ferg's thoughts on the 25/26 ram sale season

Head Shepherd

Play Episode Listen Later Feb 15, 2026 26:27


Tune in this week on the Head Shepherd podcast to hear Ferg discuss the 2025/2026 ram sale period across Australia and New Zealand. He explains his approach to selecting the right ram team and the decisions breeders have been facing when producing rams for sale in an increasingly data-driven market.Ferg discusses the breeding values gaining attention, as well as buyer behaviour when information is available AND when it is missing. He also explains the neXtPredict tool developed in partnership with Weatherbys and how it can support producers who want to better understand the genetic merit of their ram teams or wider flock if they have been purchasing rams without breeding values. Head Shepherd is brought to you by neXtgen Agri International Limited. We help livestock farmers get the most out of the genetics they farm with. Get in touch with us if you would like to hear more about how we can help you do what you do best: info@nextgenagri.com.Thanks to our sponsors at MSD Animal Health and Allflex, Heiniger Australia and New Zealand, and ProWay Livestock Equipment. Please consider them when making product choices, as they are instrumental in enabling us to bring you this podcast each week.Check out the MSD range HERE Check out Allflex products HERE Check out Heiniger's product range HERE Check out ProWay's product range HERE

Uplevel Dairy Podcast
309 | A Dairy Genomics Pioneer: Dr. George Wiggins

Uplevel Dairy Podcast

Play Episode Listen Later Feb 11, 2026 30:09


In this episode of the Uplevel Dairy Podcast, Peggy Coffeen sits down with Dr. George Wiggins to discuss his extensive career in dairy cattle genetics and genomics. Dr. Wiggins shares his journey from growing up on a dairy farm to working closely with Dr. Paul Van Radden, leading to significant contributions in genetic evaluations that propel the dairy industry. He highlights the transformative role of genomics in doubling genetic progress and improving dairy cattle productivity. Dr. Wiggins also touches upon his international experiences, including his time with the Peace Corps and the USDA, and reflects on the recognition he received as a Pioneer Award winner from the National Dairy Shrine. Throughout the conversation, the emphasis is on the importance of innovation, data accuracy, and continuous improvement in dairy genetics.00:50 Early Life and Influences01:43 Academic Journey and Mentorship05:01 International Experience and Career Decisions08:59 Return to Academia and USDA Career10:27 Advancements in Dairy Genetics12:39 Impact of Genomics24:43 Future of Dairy Genetics27:46 Recognition and ReflectionsAward applications: https://dairyshrine.org/awards/Scholarship applications: https://dairyshrine.org/youth/#scholarDonate to Dairy Shrine: https://dairyshrine.org/donate/ YouTube channel: https://youtube.com/@dairyshrine?si=dS_EVxaA1XhUXBhzInformation about webinarTopic: “Avoiding Burnout in a 24/7 Industry”Date: February 11, 2026Time: Noon CentralClick here to register: https://us06web.zoom.us/webinar/register/WN_eTGV4PLeTe2gI4np7Lrlzg

The G Word
Réka Novotta: What is informed consent?

The G Word

Play Episode Listen Later Feb 11, 2026 8:07


In this explainer episode, we've asked Réka Novotta, Research Ethics Operations Manager at Genomics England, to explain what informed consent is. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you've got any questions, or have any other topics you'd like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What do we mean by informed consent? My name is Florence Cornish, and today I'm here with Réka, who is Research Ethics Operations Manager here at Genomics England, and she's going to be telling us much more about it.   I think it would first be helpful Réka, if you could explain the word consent.   Réka: The broad definition of consent is that it's the voluntary agreement given by an individual to participate in a particular activity.  We all probably give consent to a lot of different things each day without really realizing it. So, you go on to read the news in the morning, and the website asks for your consent to process cookies. You maybe go to a routine GP appointment later, and you stick your arm out for them to measure your blood pressure. Maybe you even go to a podcast and you give consent to a host to record your voice. So, these are all based on affirmative action made by you while taking into consideration the information that's available to you.   The technical definition of consent often includes that it's freely given, meaning that you are not coerced. That it's specific, meaning when you stick your arm out for your doctor, you're only agreeing to that part of the examination, and perhaps most importantly, that person needs to be adequately informed for the consent to be meaningful.  Florence: So you gave lots of really interesting examples there. I think it would be good to understand what we mean by informed consent and where this distinction comes in. How does it differ?  Réka: By informed consent, we mean that the person consenting has been provided with all relevant and necessary information about the activity, in a format that is accessible and understandable for them.   And that latter part of the sentence is really important, because if you go to the doctor and the doctor speaks to you in French, if you speak French, then wonderful, you have all the information that you need. But if you don't, even though the information is technically there, you not understanding it makes it impossible for your consent to be informed.   Similarly, if you think about maybe an older person who's not familiar with technology, if they see a QR code, they might not necessarily know what to do with it, even if it would technically lead to all of the information that they would ever want to know about Genomics England.  Florence: So you mentioned Genomics England, obviously we both work for Genomics England, this is a Genomics 101 podcast. So what do we mean by informed consent in the context of genomics? Where does it come into play?  Réka: So if we think about informed in a traditional research study, they test a drug, the treatment either works or it doesn't work, and there's analysis of that data, and that's sort of the end of the process.  With genomics, there's a huge amount of information that gets generated and analysed, and the field itself is rapidly evolving. So we may not have an answer today, but we might do tomorrow, which puts our participants' data in the research resource that we manage in a really unique position.   Because of that, it's even more important perhaps for this consent to be ongoing. Consent is often incorrectly considered a tick box exercise, where you receive information, you consider the information, you make a decision, and that's sort of it. Whereas for genomics, it's important that it is an ongoing conversation and it doesn't just stop at the signing of a form.   We also employ what's called a broad consent model. Genomics England manages the National Genomic Research Library, which rather than being a single study, is a resource for a wide range of research uses. It allows us to gain permission via the informed consent conversations for the storage and the use of data and samples for upcoming studies that we don't yet know about.  And this eliminates the need to reconsent each participant every time a researcher starts to use their data for a new research project, and in turn, and this also feeds back to the need for ongoing conversation, a fully informed consent is very hard to achieve at the time of consenting.  Florence: So you mentioned the National Genomic Research Library, and we actually did a previous explainer podcast episode about this. So, if listeners would like to learn more about it, you can check out our previous Genomics 101 episode: What is the National Genomic Research Library?   Réka, I'd be interested to know, are there any challenges related to informed consent that are specific to the field of genomics?  Réka: Yeah, so there's many fascinating challenges. There's one that I really want to highlight, which is the family aspect. It's a lot more pronounced in genomics than it is in traditional medicine. The information that you receive, it doesn't only affect you, but it also affects your parents, your siblings, your existing, or even your future children, which is quite unique, and there's a challenge in how we articulate that without causing further anxiety.  Florence: So speaking of the challenges there, the family aspect and the fact that genomics as a field is rapidly evolving, I think this highlights how important it is that we embed informed consent into our practices.   Could you tell me a bit about how we're doing this at Genomics England?  Réka: We follow best practice in informed consent called information layering, where we provide materials for our research in different formats. And this can ensure that participants can get the depth of understanding that they need, without feeling overwhelmed by a massive amount of information from the outset.  So this includes longer and shorter information sheets, providing materials and training for healthcare professionals so that they can have conversations with potential participants. We also have lots of different copy on our website. We have videos, and this podcast as well.  And it's all part of what we call patient and public involvement and engagement or PPIE, which means that we co-produce our materials involving members of the public and patients in the design of our materials, making sure that they present accessible and understandable information.  It is really important for us not to, as you say, mark our own homework. What makes sense to one person might not make sense to another, and it's important to get lots of different perspectives. And I just wanted to shout out the Participant Panel who's a committee of wonderful people who help us, and also keep us accountable in everything that we do.  Florence: What would happen if say, somebody gave informed consent for their data to be stored in the National Genomic Research Library, but then they change their mind and they want to take it back? What would happen then?  Réka: So we offer 2 types of withdraw from a resource. There is an option to withdraw partially or to unsubscribe, which means that you can leave your de-identified donated data for researchers to analyse, but not receive any updates or contact from us going forward.   You can also decide to withdraw your participation fully, and that's where we make your data unavailable for future research. One of the key pillars in informed consent and the consent model that Genomics England employs, is that research participants can withdraw their consent to participate at any time without giving us a reason.  So, it doesn't matter if you submit your request on a website or on a paper form or if you call us, we will respect your decision with no questions asked.  Florence: Thank you so much for coming on and for walking us through the meaning of informed consent, and why it's so important in the context of healthcare and research.  If you want to learn more about terms we use in genomics, check out our other podcasts at www.genomicsengland.co.uk, or, wherever you get your podcasts. Thank you for listening.  

OffScrip with Matthew Zachary
Artificially Intelligent and Naturally Irreverent

OffScrip with Matthew Zachary

Play Episode Listen Later Feb 10, 2026 45:29


Matt Hampton and Dr Tom Ingegno came into my world the way the best guests always do. They found me first. They pulled me onto their Irreverent Health Podcast, a show that blends medicine, curiosity, and unapologetic nonsense the same way Gen X kids blended Saturday morning cartoons with nuclear-war anxiety. We recorded together, we went off the rails together, and by the end I told them the rule. If you ever come to New York, you sit in my studio. No exceptions.They showed up. They took the hot seat. They told Alexa to shut up. They joked about Postmates. They compared bifocals before I even hit record. From there it turned into a full blown eighties time machine powered by weed policy, AI diagnostics, acupuncture philosophy, art school trauma, cannabis data science, paranormal detours, and the kind of deep cut pop culture references only Gen X survivors can decode.Matt builds AI systems. Tom heals people with needles and a lifetime of East Asian medicine. Together they make healthcare funny without pretending it works. They remind you that curiosity carries weight when the system collapses under its own stupidity.This episode is a reunion of three loudmouths raised on Atari, late night cable, and the hard lesson that you either tell the truth or get flattened by it. Go subscribe to Irreverent Health. These guys earned it.RELATED LINKS• Irreverent Health Podcast• Matt Hampton – Consilium Institute• Envoy Design• Dr. Tom Ingegno – Charm City Integrative Health• The Cupping Book• You Got Sick—Now What?• Matt Hampton on LinkedIn• Dr. Tom Ingegno on LinkedInFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Real Science Exchange
Management of Genetic Diversity for Future-Proofing Dairy Breeding; Dr. Maltecca, North Carolina State University; Dr. Huson, Cornell University; Dr. Macciotta, University Di Sassari; Dr. Baes, University of Guelph; Dr. Mapholi, University of South Africa

Real Science Exchange

Play Episode Listen Later Feb 10, 2026 53:56


Genetic resilience and the dynamics of inbreeding and diversity in dairy breeding. Dr. Maltecca (6:43)The main issues in managing genetic diversity in dairy cattle include inbreeding depression and continuing selection without exhausting the available variability in the population. These are difficult to investigate in a breeding population, as there is not a model algorithm where there is the luxury of designing an experiment. Dairy cattle closely resemble one another, so it is difficult to distinguish between the effect of selection from the effect of drift and the effect of deleterious mutation accumulation in the population. Researchers find proxies to estimate inbreeding and inbreeding depression because we don't have good estimates of dominance effects.Identifying genetic diversity within indigenous and highly commercialized breeds for improved performance and future preservation. Dr. Huson (12:24)Dr. Huson covered four steps of thinking about genetic diversity in cattle: characterization of the genetic diversity, biological understanding of why we should preserve diversity, utilizing our understanding of diversity in breeding programs, and preserving and reassessing diversity over time. Harnessing indigenous African breeds for sustainable dairy production: Opportunities for crossbreeding to accelerate genetic improvement. Dr. Mapholi (16:52)Dr. Mapholi emphasized the importance of tick and disease resistance for the sustainability of the African dairy industry. The indigenous African breeds had been overlooked due to small frame size and the perception they were not suitable for commercial farming, but they have excellent tick and disease resistance. Exotic breeds from the US and Europe struggled with the harsh environment. Crossbreeding indigenous and exotic breeds is allowing for simultaneous improvement in milk production and disease resistance. Genomics is particularly helpful to identify the best candidate breeds for crossing.Genomic- versus pedigree-based inbreeding: 2 sides of the same coin. Dr. Macciotta (24:19)It was thought that genomic selection would help in slowing the increase of inbreeding because we were looking at the DNA of the animal, not their pedigree. However, the traditional top animals were the population from which genomic selection began, and genomic selection shortens generation interval, so inbreeding continues to increase at a faster rate. Genomics offer new tools for investigating inbreeding, but there are 10-15 options to calculate inbreeding, all of which could provide a different answer. With pedigree selection, there is only one measurement of inbreeding. We are still investigating the best method for calculating inbreeding using genomic tools.Managing genetic diversity: Strategies for sustainable livestock improvement. Dr. Baes (27:53)Genomic selection has increased the speed at which animals become more related. There are negative implications of inbreeding, but today, the genetic and economic gains achieved through the current intense directional selection still far outweigh the inbreeding issues. No one knows where the edge of the cliff is, however. Dr. Baes envisions an international system one day where academia, AI companies, and producers all work together to understand and manage genetic diversity in livestock.The panelists discuss key takeaways they got from the other speakers' presentations and give perspectives on the topic of genetic diversity for their particular country and field of study. (34:58)Panelists share their take-home thoughts. (46:10)Please subscribe and share with your industry friends to invite more people to join us at the Real Science Exchange virtual pub table.  If you want one of our Real Science Exchange t-shirts, screenshot your rating, review, or subscription, and email a picture to anh.marketing@balchem.com. Include your size and mailing address, and we'll mail you a shirt.

Explore Global Health with Rob Murphy, MD
Frontline Genomics and the Future of Global Health with Tulio de Oliveira, PhD

Explore Global Health with Rob Murphy, MD

Play Episode Listen Later Feb 10, 2026 24:55


Tulio de Oliveira, PhD, a Brazilian-born scientist who calls South Africa home, has become one of the world's most sought-after bioinformatics specialists and leaders in infectious disease outbreak surveillance. His contributions to global health are many and include the identification of major variants of concern during the COVID-19 pandemic, such as Beta and Omicron. Today, he is on a mission to ensure that genomic science in Africa doesn't just contribute to the field of global health, but helps lead it. In this episode, Dr. Rob Murphy talks to de Oliveira about his career path in global health and why he thinks now is a critical time for young people to enter the field.

Optimization Academy with Dr. Greg Jones
81. Beyond the DNA Test: How Genomics Redefines Your Heart and Brain Health with Dr. Sharon Hausman-Cohen

Optimization Academy with Dr. Greg Jones

Play Episode Listen Later Feb 10, 2026 63:25


In this episode, Dr. Greg Jones sits down with Dr. Sharon Hausman-Cohen, Chief Medical Officer of IntelliXX DNA, to explore how medical genomics is transforming the way we understand heart disease, brain health, inflammation, and metabolism. Most people think genetics stops at traits like eye color or ancestry. Genomics goes much deeper—analyzing how thousands of genes interact to influence cardiovascular risk, cognitive function, clotting tendencies, nutrient metabolism, and chronic inflammation.Dr. Hausman-Cohen explains why many direct-to-consumer DNA tests fall short, how incomplete interpretation can mislead patients, and why clinician-guided genomic analysis allows for truly personalized care. The conversation also dives into inflammation, methylation, homocysteine, cholesterol myths, caffeine metabolism, mitochondrial health, and women's unique clotting risks.Whether you're trying to reduce your risk of heart disease, improve mental clarity, or understand how your biology responds to diet, supplements, and medications—this episode offers a science-based roadmap for precision health.

Nice Genes!
Genomic Repeat: Germ Spotting - Tracking diseases using genomics

Nice Genes!

Play Episode Listen Later Feb 10, 2026 46:49


This episode was originally released on December 13, 2022Stop the presses! New research shows that viruses locked in the Arctic permafrost for thousands of years have the potential to infect present-day organisms. Accompanied with a warming planet, this issue is really starting to thaw out. So what can brave scientists and institutions on the frontlines of tracking diseases do about it? And how can understanding our genomic history with diseases over thousands of years better prepare us in the fight to overcome them?Dr. Kaylee Byers starts our journey by slinking into a disease-tracking genomics lab at Simon Fraser University to meet Dr. Michael Trimble and Dr. Will Hsiao to understand the challenge of outpacing the rapid evolution of viruses. Then she pops across the ocean to speak with Dr. Birgitta Evengård and Dr. Jean-Michel Claverie about whether the Pandora's box of ancient diseases frozen in the arctic have the potential to become the next global outbreak as temperatures warm. Plus, we unearth ancient burial sites in Vietnam with Dr. Melandri Vlok, to investigate how climate change exacerbates the tension between human health and pathogens.Special thanks to Dr. Will Hsiao and Dr. Michael Trimble for allowing us to record with them at Simon Fraser University.Resources:1. Infection control in the new age of genomic epidemiology | British Columbia Centre for Disease Control Public Health Laboratory2. The permafrost pandemic: could the melting Arctic release a deadly disease | Unearthed3. Viral spillover risk increases with climate change in High Arctic lake sediments | The Royal Society4. Healthy ecosystems for human and animal health: Science diplomacy for responsible development in the Arctic | The Nordic Centre of Excellence5. Understanding and Responding to Global Health Security Risks from Microbial Threats in the Arctic: Proceedings of a Workshop | National Academies of Science, Engineering, Medicine6. Next pandemic may come from melting glaciers, new data shows | The Guardian7. Scientists Revived Ancient 'Zombie Viruses' Frozen For Eons in Siberia | Science Alert8. A 48,500-year-old virus has been revived from Siberian permafrost | NewScientist9. Anthrax outbreak in Siberia | euro news10. CBC News: The National | Russia invades Ukraine | Canadian Broadcast Corporation (CBC)11. National Geographic: Explorer Directory, Melandri Vlok | National Geographic12. Paleoepidemiological Considerations of Mobility and Population Interaction in the Spread of Infectious Diseases in the Prehistoric Past | Bioarchaeology International13. The Epidemiological Transition: A Theory of the Epidemiology of Population Change | Milbank Memorial Fund14. Forager and farmer evolutionary adaptations to malaria evidenced by 7000 years of thalassemia in Southeast Asia | nature portfolio15. CARD 2020: antibiotic resistome surveillance with the comprehensive antibiotic resistance database | Department of Molecular Biology and Biochemistry, Simon Fraser University

Oncology Peer Review On-The-Go
S1 Ep200: Exploring the Bone Marrow Microenvironment's Influence on NDMM Trajectory

Oncology Peer Review On-The-Go

Play Episode Listen Later Feb 9, 2026 16:13


In a conversation with CancerNetwork®, Manoj Bhasin, PhD, MS, spoke about findings from a study in which he and colleagues developed a single-cell atlas characterizing the dysregulation of the bone marrow immune microenvironment in newly diagnosed multiple myeloma. Findings published in Nature Cancer showed that the immune system has a broad, treatment-independent influence on outcomes in newly diagnosed multiple myeloma.Bhasin began by detailing the background and methodology of his study, in which an Immune Atlas of multiple myeloma helped generate profiles of 1,397,272 single cells from the bone marrow of 337 patients with newly diagnosed disease to characterize immune and hematopoietic cell populations. He also broke down specific analyses of certain aspects of the immune microenvironment, such as signaling evaluations demonstrating active intercellular communication involving a proliferation-inducing ligand and B cell maturation antigen potentially associated with tumor growth and survival.Looking ahead, Bhasin described a need to research additional factors, including those beyond the bone marrow, which may help clinicians further optimize therapeutic strategies for patients with multiple myeloma.“Maybe the biggest thing we want to say from this study is that the immune system is a critical player in the outcome of multiple myeloma, its emergence, and its therapeutic response. It is not a byproduct; it is a major driver of the outcomes,” Bhasin stated. “[Not] all high-risk multiple myeloma lesions are the same. We should look at the immune imprints of them, further comprehensively study them, and then help in designing immune therapies that fix the immune dysregulation that is associated with each cytogenetic alteration [instead of] thinking that all high-risk cytogenetic lesions of myeloma are all the same.”Bhasin is a professor in the Department of Pediatrics and in the Department of Biomedical Informatics at Emory University School of Medicine, and director of Genomics, Proteomics, Bioinformatics and Systems Biology and the Aflac Director of the Single Cell Biology Program at Children's Healthcare of Atlanta.ReferencePilcher WC, Yao L, Gonzalez-Kozlova E, et al. A single-cell atlas characterizes dysregulation of the bone marrow immune microenvironment associated with outcomes in multiple myeloma. Nat Cancer. 2026;7:224-246. doi:10.1038/s43018-025-01072-4

OffScrip with Matthew Zachary
Good Morning, Cancer

OffScrip with Matthew Zachary

Play Episode Listen Later Feb 3, 2026 42:53


Bill Thach has had 9 lines of treatment, over 1,000 doses of chemo, and more scans than an airport. He runs ultramarathons for fun. He jokes about being his own Porta Potty. He became a father, then got cancer while his daughter was 5 months old. Today she is 8. He hides the worst of it so she can believe he stands strong, even when he knows that hiding has a cost.We talk about the illusion of strength, what it means to look fine when your body is falling apart, and how a random postcard in an MD Anderson waiting room led him to Man Up to Cancer, where he now leads Diversity and AYA Engagement. Fatherhood. Rage. Sex. Denial. Humor. Survival. All that and why the words good morning can act like a lifeline.RELATED LINKSFight Colorectal CancerCURE TodayINCA AllianceMan Up to CancerWeeViewsYouTubeLinkedInFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

UN-LoC'D
Ep 29 - Now What? (ft Crystal Kennedy)

UN-LoC'D

Play Episode Listen Later Feb 3, 2026 49:46


On Episode 29 of Un-Loc'd, we feature guest Crystal Kennedy a recent PhD grad of Genetics and Genomics to discuss major life transitions. She and host, Audrey Augustave, explore uncertainty, shifting dynamics, and the freedom to explore fullfillment based choices. CONNECT WITH UN-LOC'D THE PODCAST:If you are interested in reaching out to share your thoughts, topic idea, or if you are interested in becoming a guest email me at ⁠⁠⁠⁠⁠⁠info@unlocdthepodcast.com⁠⁠⁠⁠⁠⁠ Audrey Augustave is the practice owner of A Nurtured Life Psychotherapy, a mental health practice located in Englewood, NJ. She is currently accepting new clients from residents of NJ & NY state. Audrey Augustave is a "conflict specialist" who specializes in working with interpersonal and internal conflict. She works with high couples, coparents, and individuals struggling through grief, loss, and major life transitions.

Vet Life Reimagined
Scaling Impact from the Clinic to Global Genomics (Dr. David Haworth)

Vet Life Reimagined

Play Episode Listen Later Feb 2, 2026 52:38 Transcription Available


Send us a textIn this episode, Dr. David Haworth joins Megan Sprinkle to share his nonlinear veterinary career journey, a path that took him from a two-doctor clinic in Spokane, WA to leading major organizations like Pfizer Animal Health, PetSmart Charities, and the Morris Animal Foundation. David reflects on the power of asking the right questions, the "evil" of cancer, and why the veterinary profession must act now to stay at the center of the human-animal bond. About the Guest:Dr. David Haworth, DVM, PhD is a veterinarian and researcher who has held executive leadership roles across the animal health industry. He served as President of PetSmart Charities, President and CEO of the Morris Animal Foundation, and held key roles at Pfizer Animal Health (now Zoetis). He also co-founded Vidium Animal Health, a genomic diagnostics and therapy company focused on canine cancer. He currently serves as a Chair with the Human Animal Bond Research Institute (HABRI) and as a board member for the North American Veterinary Community (NAVC). Resources:Video episode on YouTubeDr. Haworth on LinkedInSupport the showMore Vet Life Reimagined?

From where does it STEM?
Building the Tools That Built Genomics: Dr. Steve Henikoff

From where does it STEM?

Play Episode Listen Later Jan 30, 2026 48:17


HHMI Investigator Steven Henikoff shares the untold story behind BLOSUM matrices, centromere biology, and the early days of computational genomics. From being drafted during Vietnam to shaping how we align every protein sequence today, this episode explores how curiosity, collaboration, and mentorship can shape an entire field.

Agripod
QR Codes on beef AND Genetically improving bromegrass

Agripod

Play Episode Listen Later Jan 30, 2026 34:38


What should I make for dinner? Canada Beef will say...beef.. of course. But what cut of beef should I chose? How do I prepare it? That's why Canada Beef is working towards getting QR codes on every package of beef. One quick scan with your smart phone and all of those questions will be answered. Canada Beef President Michael Young says when every cut of beef has its own QR code the home cook will have the information they need to make a decision on the type of beef to buy, how to cook it, access to recipes and videos and even a grocery list, at their fingertips. Eventually the QR code will be part of the retail meat case, print or digital flyers. While beef will be the first to do this, Young believes other commodities like chicken and pork will soon follow.AND Better brome....better beef. The Global Institute for Food Security (GIFS) at the University of Saskatchewan will receive $332,000 from the Agriculture Development Fund to find ways to make genetic improvements in bromegrass, an essential forage crop for cattle. GIFS Director of Genomics and Bioinformatics Dr. Andrew Sharpe will explain how the research being done will produce a catalogue of genetic variations for bromegrass. He says it will have a direct impact on the ability of breeders to select the most nutritious varieties of bromegrass that produce the largest yield.See omnystudio.com/listener for privacy information.

Science (Video)
CARTA: Population Genetics of Latin America and Oceania with Andrés Moreno-Estrada

Science (Video)

Play Episode Listen Later Jan 29, 2026 19:39


Genetic data is transforming the understanding of our own species and refining historical chapters at different scales around the globe. However, despite the globalization of biotechnologies to analyze the human genome, indigenous populations from the Americas and Oceania remain underrepresented in large-scale genomic studies. Andrés Moreno-Estrada, Cinvestav, discusses recent efforts to characterize the genetic profile of Indigenous Americans throughout the analysis of ancient and modern DNA, as well as their relationship within and beyond the continent, including the possibility of prehistoric contacts with Pacific Islanders. This topic poses challenges and opportunities to adequately study human diversity not only for the benefit of genetic research and science, but also for the benefit of the local communities, which are bearers of a unique evolutionary history that has been recorded in their DNA. This rapidly evolving field also raises questions about the best practices when studying the DNA of underrepresented ancestries while conducting cutting-edge science in a more equitable way. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 41201]

University of California Audio Podcasts (Audio)
CARTA: Population Genetics of Latin America and Oceania with Andrés Moreno-Estrada

University of California Audio Podcasts (Audio)

Play Episode Listen Later Jan 29, 2026 19:39


Genetic data is transforming the understanding of our own species and refining historical chapters at different scales around the globe. However, despite the globalization of biotechnologies to analyze the human genome, indigenous populations from the Americas and Oceania remain underrepresented in large-scale genomic studies. Andrés Moreno-Estrada, Cinvestav, discusses recent efforts to characterize the genetic profile of Indigenous Americans throughout the analysis of ancient and modern DNA, as well as their relationship within and beyond the continent, including the possibility of prehistoric contacts with Pacific Islanders. This topic poses challenges and opportunities to adequately study human diversity not only for the benefit of genetic research and science, but also for the benefit of the local communities, which are bearers of a unique evolutionary history that has been recorded in their DNA. This rapidly evolving field also raises questions about the best practices when studying the DNA of underrepresented ancestries while conducting cutting-edge science in a more equitable way. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 41201]

CARTA - Center for Academic Research and Training in Anthropogeny (Video)
CARTA: Population Genetics of Latin America and Oceania with Andrés Moreno-Estrada

CARTA - Center for Academic Research and Training in Anthropogeny (Video)

Play Episode Listen Later Jan 29, 2026 19:39


Genetic data is transforming the understanding of our own species and refining historical chapters at different scales around the globe. However, despite the globalization of biotechnologies to analyze the human genome, indigenous populations from the Americas and Oceania remain underrepresented in large-scale genomic studies. Andrés Moreno-Estrada, Cinvestav, discusses recent efforts to characterize the genetic profile of Indigenous Americans throughout the analysis of ancient and modern DNA, as well as their relationship within and beyond the continent, including the possibility of prehistoric contacts with Pacific Islanders. This topic poses challenges and opportunities to adequately study human diversity not only for the benefit of genetic research and science, but also for the benefit of the local communities, which are bearers of a unique evolutionary history that has been recorded in their DNA. This rapidly evolving field also raises questions about the best practices when studying the DNA of underrepresented ancestries while conducting cutting-edge science in a more equitable way. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 41201]

Science (Audio)
CARTA: Population Genetics of Latin America and Oceania with Andrés Moreno-Estrada

Science (Audio)

Play Episode Listen Later Jan 29, 2026 19:39


Genetic data is transforming the understanding of our own species and refining historical chapters at different scales around the globe. However, despite the globalization of biotechnologies to analyze the human genome, indigenous populations from the Americas and Oceania remain underrepresented in large-scale genomic studies. Andrés Moreno-Estrada, Cinvestav, discusses recent efforts to characterize the genetic profile of Indigenous Americans throughout the analysis of ancient and modern DNA, as well as their relationship within and beyond the continent, including the possibility of prehistoric contacts with Pacific Islanders. This topic poses challenges and opportunities to adequately study human diversity not only for the benefit of genetic research and science, but also for the benefit of the local communities, which are bearers of a unique evolutionary history that has been recorded in their DNA. This rapidly evolving field also raises questions about the best practices when studying the DNA of underrepresented ancestries while conducting cutting-edge science in a more equitable way. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 41201]

UC San Diego (Audio)
CARTA: Population Genetics of Latin America and Oceania with Andrés Moreno-Estrada

UC San Diego (Audio)

Play Episode Listen Later Jan 29, 2026 19:39


Genetic data is transforming the understanding of our own species and refining historical chapters at different scales around the globe. However, despite the globalization of biotechnologies to analyze the human genome, indigenous populations from the Americas and Oceania remain underrepresented in large-scale genomic studies. Andrés Moreno-Estrada, Cinvestav, discusses recent efforts to characterize the genetic profile of Indigenous Americans throughout the analysis of ancient and modern DNA, as well as their relationship within and beyond the continent, including the possibility of prehistoric contacts with Pacific Islanders. This topic poses challenges and opportunities to adequately study human diversity not only for the benefit of genetic research and science, but also for the benefit of the local communities, which are bearers of a unique evolutionary history that has been recorded in their DNA. This rapidly evolving field also raises questions about the best practices when studying the DNA of underrepresented ancestries while conducting cutting-edge science in a more equitable way. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 41201]

The G Word
Adam Clatworthy, Emma Baple, Jo Wright, Lisa Beaton and Jamie Ellingford: What Does the Diagnostic Odyssey Really Mean for Families?

The G Word

Play Episode Listen Later Jan 28, 2026 27:24


In this special episode, recorded live at the 2025 Genomics England Research Summit, host Adam Clatworthy is joined by parents, clinicians and researchers to explore the long, uncertain and often emotional journey to a genetic diagnosis. Together, they go behind the science to share what it means to live with uncertainty, how results like variants of uncertain significance (VUS) are experienced by families, and why communication and support matter just as much as genomic testing and research. The panel discuss the challenges families face when a diagnosis remains out of reach, the role of research in refining and revisiting results over time, and how collaboration between researchers, clinicians and participants could help shorten diagnostic journeys in the future. Joining Adam Clatworthy, Vice-Chair for the Participant Panel, on this episode are: Emma Baple – Clinical geneticist and Medical Director, South West Genomic Laboratory Hub  Jamie Ellingford – Lead genomic data scientist, Genomics England  Jo Wright – Member of the Participant Panel and Parent Representative for SWAN UK  Lisa Beaton - Member of the Participant Panel and Parent Representative for SWAN UK  Linked below are the episodes mentioned in the episode:  What is the diagnostic odyssey?  What is a Variant of Uncertain Significance?  Visit the Genomics England Research Summit website, to get your ticket to this years event. You can download the transcript, or read it below. Sharon: Hello, and welcome to Behind the Genes. My name is Sharon Jones and today we're bringing you a special episode recorded live from our Research Summit held in June this year. The episode features a panel conversation hosted by Adam Clatworthy, Vice-Chair of the Participant Panel. Our guests explore navigating the diagnostic odyssey, the often-complex journey to reaching a genetic diagnosis. If you'd like to know more about what the diagnostic odyssey is, check our bitesize explainer episode, ‘What is the Diagnostic Odyssey?' linked in the episode description. In today's episode you may hear our guests refer to ‘VUS' which stands for a variant of uncertain significance. This is when a genetic variant is identified, but its precise impact is not yet known. You can learn more about these in another one of our explainer episodes, “What is a Variant of Uncertain Significance?” And now over to Adam. -- Adam: Welcome, everyone, thanks for joining this session. I'm always really humbled by the lived experiences and the journeys behind the stories that we talk about at these conferences, so I'm really delighted to be hosting this panel session. It's taking us behind the science, it's really focusing on the people behind the data and the lived experiences of all the individuals and the families who are really navigating this system, trying to find answers and really aiming to get a diagnosis – that has to be the end goal. We know it's not the silver bullet, but it has to be the goal so that everyone can get that diagnosis and get that clarity and what this means for their medical care moving forwards.    So, today we're really going to aim to demystify what this diagnostic odyssey is, challenging the way researchers and clinicians often discuss long diagnostic journeys, and we'll really talk about the vital importance of research in improving diagnoses, discussing the challenges that limit the impact of emerging research for families on this odyssey and the opportunities for progress. So, we've got an amazing panel here. Rather than me trying to introduce you, I think it's great if you could just introduce yourselves, and Lisa, I'll start with you. Lisa: Hi, I'm Lisa Beaton and I am the parent of a child with an unknown, thought to be neuromuscular, disease. I joined the patient Participant Panel 2 years ago now and I'm also a Parent Representative for SWAN UK, which stands of Syndromes Without A Name. I have 4 children who have all come with unique and wonderful bits and pieces, but it's our daughter who's the most complicated. Adam:  Thank you. Over to you, Jo. Jo:  Hi, I'm Jo Wright, I am the parent of a child with an undiagnosed genetic condition.  So I've got an 11-year-old daughter. 100,000 Genomes gave us a VUS, which we're still trying to find the research for and sort of what I'll talk about in a bit.  And I've also got a younger daughter. I joined the Participant Panel just back in December. I'm also a Parent Rep for SWAN UK, so Lisa and I have known each other for quite a while through that. Adam:  Thank you, Jo.  And, Jamie, you're going to be covering both the research and the clinician side and you kind of wear 2 hats, so, yeah, over to you. Jamie:  Hi, everyone, so I'm Jamie Ellingford and, as Adam alluded to, I'm fortunate and I get to wear 2 hats. So, one of those hats is that I'm Lead Genomic Data Scientist for Rare Disease at Genomics England and so work as part of a really talented team of scientists and engineers to help develop our bioinformatic pipelines, so computational processes. I work as part of a team of scientists and software engineers to develop the computation pipelines that we apply at Genomics England as part of the National Health Service, so the Genomic Medicine Service that families get referred to and recruited to, and we try to develop and improve those. So that's one of my hats. And the second of those is I am a researcher, I'm an academic at the University of Manchester, and there I work really closely with some of the clinical teams in the North West to try and understand a little bit more about the functional impact of genomic variants on kind of how things happen in a cell. So, we can explore a little bit more about that but essentially, it's to provide a little bit more colour as to the impact that that genomic variant is having. Adam: Great, thank you, Jamie. Over to you, Emma. Emma: My name's Emma Baple, I'm an academic clinical geneticist in Exeter but I'm also the Medical Director of the South West genomic laboratory hub, so that's the Exeter and Bristol Genomics Laboratory. And I wear several other hats, including helping NHS England as the National Specialty Advisor for Genomics. Adam: Thank you all for being here. I think it's really important before we get into the questions just to ground ourselves in like those lived experiences that yourself and Jo and going through. So, Lisa, I'm going to start with you. The term ‘diagnostic odyssey' gets bandied around a lot, we hear about it so many times, but how does that reflect your experience that you've been through and what would you like researchers and clinicians to understand about this journey that you're on, essentially? Lisa: So I think ours is less an odyssey and more of a roller-coaster, and I say that because we sort of first started on a genetic journey, as it were, when my daughter was 9 weeks of age and she's now 16½ – the half's very important – and we still have no answers. And we've sort of come a bit backwards to this because when she was 6 months old Great Ormond Street Hospital felt very strongly that they knew exactly what was wrong with her and it was just a case of kind of confirmation by genetics. And then they sent off for a lot of different myasthenia panel genes, all of which came back negative, and so having been told, “Yes, it's definitely a myasthenia, we just need to know which one it is,” at 4 years of age that was removed and it was all of a sudden like, “Yeah, thanks, sorry.” And that was really hard actually because we felt we'd had somewhere to hang our hat and a cohort of people with very similar issues with their children, and then all of a sudden we were told, “No, no, that's not where you belong” and that was a really isolating experience. I can remember sort of saying to the neuromuscular team, “Well is it still neuromuscular in that case?” and there was a lot of shrugging of shoulders, and it just…  We felt like not only had we only just got on board the life raft, then we'd been chucked out, and we didn't even have a floaty. And in many ways I think I have made peace with the fact that we don't have a genetic diagnosis for our daughter but it doesn't get easier in that she has her own questions and my older children – one getting married in August who's already sort of said to me, you know, “Does this have implications for when we have children?”  And those are all questions I can't answer so that's really hard. Adam:  Thank you, Lisa. Yourself, Jo, how would you describe the odyssey that you're currently experiencing? Jo: So my daughter was about one when I started really noticing that she was having regressions. They were kind of there beforehand but, I really noticed them when she was one, and that's when I went to the GP and then got referred to the paediatrician. So initially we had genetic tests for things like Rett syndrome and Angelman syndrome, which they were all negative, and then we got referred on to the tertiary hospital and then went into 100,000 Genomes. So we enrolled in 100,000 Genomes at the beginning of 2017, and we got our results in April of 2020, so obviously that was quite a fraught time. Getting our results was probably not as you would want to do it because it was kind of over the phone and then a random letter. So, what I was told in that letter was that a variant of uncertain significance had been identified and they wanted to do further research to see if it might be more significant. So we were to be enrolled into another research project called Splicing and Disease, which wasn't active at the time because everything had been put on hold for COVID, but eventually we went into that. So, I didn't know what the gene was at that point, when I eventually got the form for going to get her bloods done…  So that went off and then that came back and the geneticist said, “That gives us some indication that it is significant.” So, since that point it's been trying to find more information and research to be able to make it a diagnosis. There have been 2 sort of key things that have happened towards that but we're still not there. So one of the things is that a research paper came out earlier this year so that's kind of a little bit more evidence, it's not going to give us a diagnosis but it kind of, you know, sits there. And the other thing is that my geneticist said, “Actually, yeah, it looks like it's an important change.”  That's as far as we've got. So we've still got work to do to make it a diagnosis or not.  Obviously if it is a diagnosis, it is still a one-of-a-kind diagnosis, so it doesn't give me a group to join or that kind of thing. But now I've got that research paper that I've read and read, and asked ChatGPT to verify that I've understood it right in some places, you know, with the faith that we put into ChatGPT (laughs), I've got a better understanding and I've got something now that I can look back on, the things that happened when my daughter was one, 2, 3, 4 and her development was all over the place and people thought that I was slightly crazy for the things I was saying, that “Actually, no, I can see what's happening.” So, it's like the picture's starting to come into focus but there's work to do. I haven't got a timeframe on that, I don't know when it's going to come together. And I always say that I'm a prolific stalker of the postman; ever since our first genetic tests you're just constantly waiting for the letters to drop through the door. So a diagnostic odyssey to me is just waiting for random events. Adam: I think what you've both kind of really clearly elaborated on is how you're the ones that are having to navigate this journey, you're the ones that are trying to piece this puzzle together, and the amount of time you're investing, all whilst navigating and looking after your child and trying to cope with the daily lived experience as well. And something you've both touched on that I'd love to draw out more is about how exactly was the information shared with you about the lack of diagnosis or the VUS or what's going on, because in our case you get this bit of paper through the post that has all these numbers and it's written in clinical speak and we had no conversation with the geneticist or the doctors. You see this bit of paper and you're reading it, scared for what the future will hold for your child, but I'd love to know like how were you communicated whilst all this is going on, how did you actually find out the next steps or any kind of future guidance. Lisa: So I think in our case we kept sort of going onto neuromuscular appointments, and I think for probably the first 5 years of my daughter's life I kind of had this very naïve thought that every time we turned up to an appointment it would be ‘the one' and then…   I think it would've been really helpful actually in those initial stages if they had said to us, “Actually, we don't know when this is going to happen, if it's even going to happen, you need to kind of prepare yourself for that.” It sounds fairly obvious to say but you don't know what you don't know. And in some ways we were getting genetic test results back for some really quite horrible things and they would tell us, “Oh it's good news, this mitochondrial disorder hasn't come up,” and so part of you is like, “Yay!” but then another part of you is thinking, “Well if it's not that what is it?” And we've very much kind of danced around and still don't really have an answer to whether it's life-limiting. We know it's potentially life-threatening and we have certain protocols, but even that is tricky. We live in North Yorkshire, and our local hospital are amazing. Every time we go in, if it's anything gastro-related, they say to me, “What's the protocol from Great Ormond Street?” and I say, “We don't have one” (laughs) and that always causes some fun. We try to stay out of hospitals as much as we absolutely can and do what we can at home but, equally, there's a point where, you know, we have to be guided by where we're going with her, with the path, and lots of phone calls backwards and forwards, and then is it going to be a transfer down to Great Ormond Street to manage it. And actually the way I found out that nothing had been found from 100,000 Genomes was in a passing conversation when we had been transferred down to Great Ormond Street and we'd been an inpatient for about 6 weeks and the geneticist said to me, “So obviously with you not having a diagnosis from the 100,000 Genomes…” and I said, “Sorry?  Sorry, what was that?  You've had the information back?”  And she said, “Well, yes, did nobody write to you?” and I said, “No, and clearly by my shock and surprise.” And she was a bit taken aback by that, but it happened yet again 2 years later (laughs) when she said, “Well you know everything's been reanalysed” and I said, “No.”  (Laughs)  And, so that's very much, it still feels an awful lot like I'm doing the heavy lifting because we're under lots of different teams and even when they're working at the same hospital they don't talk to each other. And I do understand that they're specialists within their own right, but nobody is really looking at my daughter holistically, and there are things that kind of interrelate across.    And at one of the talks I attended this morning they were talking about the importance of quality of life, and I think that is something that has to be so much more focused on because it's hard enough living without a diagnosis, but when you're living with a bunch of symptoms that, I think the best way I can describe it is at the moment we've got the spokes of the umbrella but we don't have the wrapper, and we don't know where we're going with it. We can't answer her questions, we can't even necessarily know that we're using the most effective treatments and therapies for her, and she's frustrated by that now, being 16, in her own right, as well as we are. And I'm panicking about the navigation towards Adult Services as well because at the minute at least we have a clinical lead in our amazing local paediatrician but of course once we hit and move into that we won't even have him and that's a really scary place to be, I think. Adam: Jo, is there anything you wanted to add on that in terms of how you've been communicated to whilst all this is going on? Jo: Yeah, so I think part of what makes it difficult is if you're across different hospitals because they're not necessarily going to see the same information. So obviously it was a bit of a different time when I got our results, but I got our results on a virtual appointment with a neurologist in one hospital, in the tertiary hospital, and because he could see the screen because it was the same hospital as genetics, and he said, “Oh you've got this” and then the letter came through later. When I had my next appointment with the neurologist in our primary hospital, or secondary care, whatever it's called, in that hospital, he hadn't seen that, so I'm telling him the results, which isn't ideal, but it happens quite a lot. What I think is quite significant to me is the reaction to that VUS.  I have to give it, the doctors that look after my daughter are brilliant, and I'm not criticising them in any way but their reaction to a VUS is “I'm so grateful for the persistence to get to a diagnosis.” Neurologists are a bit more like “Oh it's a VUS so it might be significant, it might be nothing.” Actually, as a patient, as in a parent, you actually want to know is it significant or not, “Do I look at it or not?” And, I mean, like I said, there were no research papers to look at before anyway until a few months ago so I didn't have anything to look at, but I didn't want to look at it either because you don't want to send yourself off down a path. But I think that collective sort of idea that once someone gets a VUS we need a pathway for it, “What do we do with it, what expectation do we set the patients up with and what is the pathway for actually researching further?” because this is where we really need the research. Adam:  Thank you, Jo. So, Emma, over to you in terms of how best do you think clinicians can actually support patients at navigating this odyssey and what's the difference between an initial diagnosis and a final diagnosis and how do you then communicate that effectively to the patients and their family?   Emma: So I think a key thing for me, and it's come up just now again, is that you need to remember as a doctor that the things you say at critical times in a patient's or parent's journeys they will remember – they'll remember it word for word even though you won't – and thinking about how to do that in the most sensitive, empathetic, calm, not rushed way is absolutely key.   And there are some difficulties with that when you're in a very high-pressure environment but it is absolutely crucial, that when you are communicating information about test results, when you're talking about doing the test in the first place, you're consenting the family, you're explaining what you're trying to do and those conditions, you balance how much information you give people.    So, you were talking earlier about “So you haven't got this diagnosis, you haven't got that diagnosis,” I often think it's…  We're often testing for numerous different conditions at the same time, I couldn't even list them all to the parents of the children or the patient that I'm testing. It's key to try and provide enough information without overwhelming people with so much information and information on specific conditions you are just thinking about as a potential.  Sometimes very low down your list actually but you can test for them.    Because people go home and they use the internet and they look things up and they get very, very worried about things. So, for me it's trying to provide bite-sized amounts of information, give it the time it deserves, and support people through that journey, tell them honestly what you think the chance of finding a diagnosis is. If you think it's unlikely or you think you know, sharing that information with family is helpful.   Around uncertainty, I find that a particular challenge. So, I think we've moved from a time when we used to, in this country, declare every variant we identified with an uncertain significance. Now, if we remember that we've all got 5 million variants in our genome, we've all got hundreds and hundreds… thousands and thousands, in fact, of variants of uncertain significance in our genetic code. And actually, unless you think a variant of uncertain significance genuinely does have a probability of being the cause of a child's or a patient's condition, sharing that information can be quite harmful to people.    We did a really interesting survey once when we were writing the guidelines for reporting variants of uncertain significance a few years ago. We asked the laboratories about their view of variants of uncertain significance and we asked the clinicians, and the scientists said, “We report variants of uncertain significance because the clinicians want them” and the clinicians said, “If the labs put the variant of uncertain significance on the report it must be important.” And of course, if you're a parent, if the doctor's told you the variant is a variant of uncertain significance of course you think it's important.    So, we should only be sharing that information, in my opinion, if it genuinely does have a high likelihood of being important and there are things that we can do. And taking people through that journey with you, with the degree of likelihood, the additional tests you need to do and explaining to them whether or not you think you will ever clarify that, is really, really key because it's very often that they become the diagnosis for the family.  Did I cover everything you think's important, both of you?  Lisa: I think the one thing I would say is that when you are patient- or parent-facing, the first time that you deliver that news to the parent… you may have delivered that piece of news multiple times and none of us sit there expecting you to kind of be overcome with emotion or anything like that but, in the same way that perhaps you would've had some nerves when, particularly if it was a diagnosis of something that was unpleasant, you know, to hold onto that kind of humanity and humility. Because for those patients and parents hearing that news, that is the only time they're ever hearing that, and the impact of that, and also, they're going on about with their day, you don't know what else they're doing, what they're juggling.    We're not asking you all to be responsible for kind of, you know, parcelling us up and whatnot but the way information is imparted to us is literally that thing we are all hanging our hats on, and when we're in this kind of uncertainty, from my personal experience I'm uncomfortable, I like to be able to plan, I'm a planner, I'm a researcher, I like to sort of look it up to the nth degree and that, and sitting in a place without any of that is, it's quite a difficult place to be. And it's not necessarily good news for those parents when a test comes back negative, because if it's not that then what is it, and that also leaves you feeling floundering and very isolated at times.  Adam: Yeah, and you touched upon the danger of like giving too much information or pushing families down a particular route, and then you have to pull them out of it when it's not that.   You talked about the experience you had, you felt like you'd found your home and then it's like, “Well, no, no, sorry, actually we don't think it's that.” And you've invested all of your time and your emotion into being part of that group and then you're kind of taken away again. So it's to the point where you have to be really sure before you then communicate to the families, and obviously in the meantime the families are like, “We just need to know something, we need to know,” and it's that real fine line, isn't it?    But, Jamie, over to you. Just thinking about the evolving nature of genomic diagnosis, what role does research play in refining or confirming a diagnosis over time?  Jamie: So it's really, really difficult actually to be able to kind of pinpoint one or 2 things that we could do as a community of researchers to help that journey, but perhaps I could reflect on a couple of things that I've seen happen over time which we think will improve things. And one of that's going back to the discussion that we've just had about how we classify genetic variants. And so, behind that kind of variant of uncertain significance there is a huge amount of effort and emotion from a scientist's side as well because I think many of the scientists, if not all, realise what impact that's going to have on the families.   And what we've tried to do as a community is to make sure that we are reproducible, and if you were to have your data analysed in the North West of England versus the South West that actually you'd come out with the same answer. And in order to do that we need guidance, we need recommendations, we need things that assist the scientists to actually classify those variants.  And so, what we have at the moment is a 5 point scale which ranges from benign to likely benign, variant of uncertain significance, unlikely pathogenic variant and pathogenic variant. It's objective as to how we classify a variant into one of those groups and so it's not just a gut feeling from a scientist, it's kind of recordable measurable evidence that they can provide to assist that classification.   So in many instances what that does is provide some uncertainty, as we've just heard, because it falls into that zone of variant of uncertain significance but what that also does is provide a framework in which we can generate more evidence to be able to classify it in one direction or another to become likely pathogenic or to become likely benign. And as a research community we're equipped with that understanding –– and not always with the tools but that's a developing area – to be able to do more about it.   What that doesn't mean is that if we generate that evidence that it can translate back into the clinic, and actually that's perhaps an area that we should discuss more. But kind of just generating that evidence isn't always enough and being able to have those routes to be able to translate back that into the hands of the clinicians, the clinical scientists, etc, is another challenge. Adam:  And how do you think we can drive progress in research to deliver these answers faster, to really try and shorten those diagnostic journeys, like what are the recommendations that you would say there? Jamie:  So being able to use the Genomics England data that's in the National Genomic Reference Library, as well as kind of other resources, has really transformed what we can do as researchers because it enables teams across the UK, across the world to work with data that otherwise they wouldn't be able to work with.   Behind that there's an infrastructure where if researchers find something which they think is of interest that can be reported back, it can be curated and analysed by teams at Genomics England and, where appropriate, kind of transferred to the clinical teams that have referred that family. And so having that pathway is great but there's still more that we can do about this. You know, it's reliant on things going through a very kind of fixed system and making sure that clinicians don't lose contact with families – you know, people move, they move locations, etc. And so, I think a lot of it is logistical and making sure that the right information can get to the right people, but it all falls under this kind of umbrella of being able to translate those research findings, where appropriate, into clinical reporting.   Adam:  Thank you. And, Emma, is there anything you would add in terms of like any key challenges that you think need to be overcome just to try and shorten the journeys as much as possible and find the answers to get a diagnosis?  Emma: I think trying to bridge that gap between some of the new technologies and new approaches that we've got that we can access in a research context and bringing those into diagnostics is a key area to try to reduce that diagnostic odyssey, so I really want to see the NHS continuing to support those sorts of initiatives.   We're very lucky, as Jamie said, the National Genomic Research Library has been fundamental for being able to reduce the diagnostic odyssey for large numbers of patients, not just in this country but around the world, and so trying to kind of look at how we might add additional data into the NGRL, use other research opportunities that we have in a more synergistic way with diagnostics I think is probably key to being able to do that.    We are very lucky in this country with the infrastructure that we've got and the fact that everything is so joined up. We're able to provide different opportunities in genomics for patients with rare conditions that aren't so available elsewhere in the world.  Adam: Great, thank you. I think we're it for time, so thank you very much to the panel. And I'd just say that if you do have any further questions for ourselves as participants then we're only too happy to pick those up. Thank you for lasting with us ‘til the end of the day and hope to see you soon.  -- Sharon: A huge thank you to our panel, Adam Clatworthy, Emma Baple, Jo Wright, Lisa Beaton and Jamie Ellingford, for sharing their insights and experiences. Each year at the summit, the Behind the Genes stage hosts podcast style conversations, bringing together researchers, clinicians and participants to discuss key topics in genomics.  If you're interested in attending a future Genomics England Research Summit, keep an eye out on our socials. If you'd like to hear more conversations like this, please like and subscribe to Behind the Genes on your favourite podcast app. Thank you for listening.    I've been your host, Sharon Jones. The podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac.

OffScrip with Matthew Zachary
Lead (Poisoning), Laugh, Love with Shannon Burkett

OffScrip with Matthew Zachary

Play Episode Listen Later Jan 27, 2026 51:54


Shannon Burkett has lived about six lives. Broadway actor. SNL alum. Nurse. Filmmaker. Advocate. Cancer survivor. And the kind of person who makes you question what you've done with your day. She wrote and produced My Vagina—the stop-motion musical kind, not the cry-for-help kind—and built a global movement after her son was poisoned by lead dust in their New York apartment. Out of that came LEAD: How This Story Ends Is Up to Us, a documentary born from rage, science, and maternal defiance. We talked about everything from The Goonies to Patrick Stewart to the quiet rage of parenting in a country that treats public health like a hobby. This episode is about art, anger, resilience, and what happens when an unstoppable theater nerd turned science geek Jersey girl collides with an immovable healthcare system.RELATED LINKSShannon Burkett Official SiteLEAD: How This Story Ends Is Up to UsEnd Lead PoisoningLinkedIn: Shannon BurkettBroadwayWorld ProfileFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

People Behind the Science Podcast - Stories from Scientists about Science, Life, Research, and Science Careers
849: Examining the Role of Epigenomics in Development and Disease - Dr. Joyce Ohm

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

Play Episode Listen Later Jan 26, 2026 42:54


Dr. Joyce Ohm is an Associate Professor of Oncology in the Department of Cancer Genetics and Genomics at the Roswell Park Comprehensive Cancer Center. Joyce's research examines the epigenomics involved in development and disease, particularly in cancer. Epigenomics is the study of how your cells package and store the information in your genome. Individual cells within your body package the genome differently to be able to most efficiently use the genes they need. This is important during development, but there are also problems with the epigenome in cancer. In her free time, Joyce enjoys cycling, as well as hiking and kayaking with her two adorable dogs. She was awarded her PhD in Cancer Biology from Vanderbilt University. Afterwards, Joyce conducted postdoctoral research in oncology at Johns Hopkins University School of Medicine. Prior to joining the faculty at Roswell Park, she served on the faculty at the University of North Dakota School of Medicine and Health Sciences. In our interview Joyce tells us more about her life and science.

Veterinary Cancer Pioneers Podcast
Dr. Guannan Wang | Precision Oncology Through Genomics

Veterinary Cancer Pioneers Podcast

Play Episode Listen Later Jan 25, 2026 43:28


In this episode of the Veterinary Cancer Pioneers Podcast, host Dr. Rachel Venable welcomes Dr. Guannan Wang, founder of VetOmics, to discuss how comprehensive genomic profiling is advancing precision oncology for dogs. Dr. Wang shares her path from molecular biology research to veterinary cancer genomics, and explains why the field is shifting from "should we use genomics?" to "how do we do it well?" The conversation covers how genomic testing can guide therapy selection, support difficult diagnoses, and help identify true cancer drivers, while emphasizing the importance of real-world outcome follow-up and biomarker-guided combination strategies to improve patient care.

Connect My Brain
182. Genomics Testing Explained: Finding Real Answers for Autism, ADHD, and Chronic Health Issues

Connect My Brain

Play Episode Listen Later Jan 22, 2026 37:01


Genomics gives us a comprehensive blueprint of sequence variants that reveal how your body actually functions. This distinction matters because we can't have a genetic epidemic, yet we're seeing alarming rises in conditions like autism (some areas report 1 in 13 children). What genomics shows us is that these conditions aren't caused by a single gene—they're influenced by generational patterns and epigenetics, which means factors both inside and outside your body that affect how genes express themselves. Book a FREE call with Dr. Laura Enroll in the CMB Membership (use code PODCAST5 for $5 off!) Learn more about Monthly Coaching Subscribe to the Connect My Brain YouTube Channel! SHOW NOTES: https://connectmybrain.com/episode182 Have a question you want answered on the podcast? Ask Dr. Laura here: https://www.connectmybrain.com/survey/ Phone the office: 678-501-5172 ** Want help starting or managing your own podcast? Talk to my producer, Marcie Paige. You focus on delivering great content—she'll take care of everything else! Visit https://marciepaige.com

OffScrip with Matthew Zachary
[WALK IT OFF EP3] CHRONIC ZEN

OffScrip with Matthew Zachary

Play Episode Listen Later Jan 20, 2026 28:17


Michael Kramer was 19 when cancer ambushed his life. He went from surfing Florida beaches to chemo, radiation, and a bone marrow transplant that left him alive but carrying a chronic disease. He had necrosis in his knees and elbows, lost his ability to surf for years, and found himself stuck in hospitals instead of the ocean. Yet he adapted. Michael picked up a guitar, built Lego sets, led support groups, and started sharing his story on Instagram and TikTok.We talk about masculinity, identity, and what happens when the thing that defines you gets stripped away. He opens up about dating in Miami, freezing sperm at a children's hospital, awkward Uber-for-sperm moments with his brother, and how meditation became survival. Michael lost his father to cancer when he was a teen, and that grief shaped how he lives and advocates today. He is funny, grounded, and honest about the realities of survivorship in your twenties. This episode shows what resilience looks like when you refuse to walk it off and choose to speak it out loud instead.RELATED LINKSMichael Kramer on InstagramMichael Kramer on TikTokMichael and Mom Inspire on YouTubeAshlee Cramer's BookUniversity of Miami Sylvester Comprehensive Cancer CenterStupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Mind & Matter
Personalized Nutrition: Individual Responses to Foods, Fiber, Fats & Maternal Health

Mind & Matter

Play Episode Listen Later Jan 14, 2026 80:59


Send us a textHow individuals vary in responses to carbs, fibers, and fats.TOPICS DISCUSSED:Personalized health profiling: Snyder's lab sequences genomes and measures molecules from blood, urine, and microbiomes to detect diseases early, emphasizing data-driven discovery over assumptions.Fiber variations and effects: Responses to dietary fibers vary individually, with microbiome playing a key role.Glycemic responses to carbs: People spike differently to foods like rice, potatoes, or bread; tied to insulin resistance subtypes in muscles, liver, or pancreas.Type 2 diabetes heterogeneity: 90% of diabetes cases are type 2 with subtypes like muscle or hepatic resistance; triggers include genetics and infections, with prediabetes often undetected.Continuous glucose monitors (CGMs): Affordable tools measure glucose every five minutes, revealing personal food triggers; spikes link to risks like cardiovascular disease and cancer.Lipidomics: Lipids are diverse, serving as energy sources, structural components, and signaling molecules; understudied but key in metabolism and gene expression.Maternal health & pregnancy: Metabolomics shows thousands of changes, including hormone shifts; cord blood analysis reveals fetal nutrient use and drug transfers, with markers for preterm birth or healthy outcomes.Future research: Exploring epigenetic changes in diabetes, personalized nutrition mitigation, and digital markers from wearables for mental health tied to diet and gut-brain axis.ABOUT THE GUEST: Michael Snyder, PhD is the Stanford W. Ascherman Professor of Genetics and former chair of the Department of Genetics at Stanford University School of Medicine, where he directs the Center for Genomics and Personalized Medicine.Support the showHealth Products by M&M Partners: SporesMD: Premium mushrooms products (gourmet mushrooms, nootropics, research). Use code TRIKOMES for 20% off. Lumen device: Optimize your metabolism for weight loss or athletic performance. MINDMATTER gets you 15% off. AquaTru: Water filtration devices that remove microplastics, metals, bacteria, and more from your drinking water. Through link, $100 off AquaTru Carafe, Classic & Under Sink Units; $300 off Freestanding models. Seed Oil Scout: Find restaurants with seed oil-free options, scan food products to see what they're hiding, with this easy-to-use mobile app. KetoCitra—Ketone body BHB + electrolytes formulated for kidney health. Use code MIND20 for 20% off any subscription (cancel anytime) For all the ways you can support my efforts

Absolute Gene-ius
Season 4 – new voices, new discoveries

Absolute Gene-ius

Play Episode Listen Later Jan 14, 2026 6:27


We're back and better than ever. Season 4 of Absolute Gene-ius is officially here, and this teaser gives you a front-row seat to what's coming. From scientific puns to sneak peeks of the upcoming guest lineup, co-hosts Jordan Ruggieri and new addition Lisa Crawford set the tone for another season of engaging, educational, and entertaining molecular biology content.This season, the show expands its scope beyond digital PCR to include real-time PCR and other tools that are working together to move research forward in fields like oncology, agriculture, behavioral psychiatry, and more. Lisa brings a non-scientist's view to the show along with a deep passion for translating complex science into compelling stories. Whether it's microvesicles, stem cells, or high-containment biosafety labs, the upcoming episodes promise to be both technically informative and very human.And in classic Absolute Gene-ius fashion, we keep it fun. From how guests got into science, to what thy love most about it, and lab fail stories, the Career Corner returns with fresh energy and laughs. Expect bad puns, big discoveries, and the beautiful chaos of real-world research. Visit the Absolute Gene-ius page to learn more about the guests, the hosts, and the science we explore. Discover the Applied Biosystems QuantStudio Digital and Real-Time PCR Systems powering real-world research across neuroscience, oncology, agriculture, and more.

OffScrip with Matthew Zachary
[WALK IT OFF EP1] ROCKS NEED ROCKS

OffScrip with Matthew Zachary

Play Episode Listen Later Jan 13, 2026 24:29


Daniel Garza had momentum. Acting roles, directing gigs, national tours lined up. Then anal cancer stopped everything. Radiation wrecked his body, stripped him of control, and left him in diapers, staring down despair. His partner, Christian Ramirez, carried him through the darkest nights, changed his wounds, fought hospitals, and paid the price with his own health. Christian still lives with permanent damage from caregiving, but he stayed anyway.Together they talk with me about masculinity, sex, shame, friendship, and survival. They describe the friendships that vanished, the laughter that kept them alive, and the brutal reality of caregiving no one prepares you for. We get into survivor guilt, PTSD, and why even rocks need rocks. Daniel is now an actor, director, and comedian living with HIV. Christian continues to tell the unfiltered truth about what it takes to be a caregiver and stay whole. This episode gives voice to both sides of the cancer experience, the survivor and the one who stands guard. RELATED LINKSDaniel Garza IMDbDaniel Garza on InstagramDaniel Garza on FacebookChristian Ramirez on LinkedInLilmesican Productions Inc (Daniel & Christian)Stupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Radio Health Journal
Skin Deep: How Melanin Impacts Your Body's Response To Drugs | Does Birth Control Cause PCOS? Facts And Misconceptions Of The Disorder

Radio Health Journal

Play Episode Listen Later Jan 12, 2026 22:56


Skin Deep: How Melanin Impacts Your Body's Response To DrugsScientific research is becoming more inclusive, but one area that's still lacking this diversity is pre-clinical research. Without knowing how medications will react to different ancestries and skin tones, millions of people are being put at risk. Our experts discuss the effect melanin has on a drug's efficacy and changes the industry can implement right now that will make a big difference.  Does Birth Control Cause PCOS? Facts And Misconceptions Of The Disorder  Polycystic ovarian syndrome affects at least one in ten women – probably more since it's so underdiagnosed. Sadly, many women are told that having PCOS means they'll never become pregnant. However, our expert this week dispels this and other misinformation that's widespread about PCOS.  Medical Notes: Robots Are Outperforming Doctors, The Dangerous Additives In Ultra-Processed Foods, And How Happiness Supports Your Brain HealthHow scientists could catch Schizophrenia sooner than ever before. Ultra-processed foods may be raising your blood sugar levels. How happiness supports your brain health. Are robots better doctors? Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

Radio Health Journal
Skin Deep: How Melanin Impacts Your Body's Response To Drugs

Radio Health Journal

Play Episode Listen Later Jan 11, 2026 11:27


Skin Deep: How Melanin Impacts Your Body's Response To DrugsScientific research is becoming more inclusive, but one area that's still lacking this diversity is pre-clinical research. Without knowing how medications will react to different ancestries and skin tones, millions of people are being put at risk. Our experts discuss the effect melanin has on a drug's efficacy and changes the industry can implement right now that will make a big difference.  Host: Elizabeth Westfield.  Producer: Kristen Farrah.  Guests: Sophie Zaaijer, Molecular Biologist, Consultant for Diversity, Equity, and Inclusion and Clinical Trials; Simon Groen, Assistant Professor of Evolutionary Systems Biology, University of California at Riverside Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

TED Radio Hour
The secrets in your baby's genes

TED Radio Hour

Play Episode Listen Later Jan 9, 2026 49:39


Genomics researcher Dr. Robert Green explains how sequencing babies' DNA can reveal hidden health risks. This hour we explore where the benefits end and the ethical dilemmas begin.Guests include Dr. Robert Green, bioethicist and pediatrician Dr. Lainie Friedman Ross and genetic counselor Bethany Zettler.TED Radio Hour+ subscribers now get access to bonus episodes, with more ideas from TED speakers and a behind the scenes look with our producers. A Plus subscription also lets you listen to regular episodes (like this one!) without sponsors. Sign-up at plus.npr.org/ted.Learn more about sponsor message choices: podcastchoices.com/adchoicesNPR Privacy Policy

PeerView Clinical Pharmacology CME/CNE/CPE Audio Podcast
Fred Saad, CQ, MD, FRCS, FCAHS - Innovative Approaches in Prostate Cancer: Bridging Genomics and Patient-Centric Treatment

PeerView Clinical Pharmacology CME/CNE/CPE Audio Podcast

Play Episode Listen Later Jan 9, 2026 62:00


This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/AAPA/IPCE information, and to apply for credit, please visit us at PeerView.com/BQU865. CME/MOC/AAPA/IPCE credit will be available until January 2, 2027.Innovative Approaches in Prostate Cancer: Bridging Genomics and Patient-Centric Treatment In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and ZERO Prostate Cancer. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by independent educational grants from Astellas and Pfizer, Inc., AstraZeneca, Bayer HealthCare Pharmaceuticals Inc., Johnson & Johnson, and Novartis Pharmaceuticals Corporation.Disclosure information is available at the beginning of the video presentation.

patients treatments innovative pfizer bridging approaches disclosure astrazeneca centric johnson johnson prostate cancer genomics saad medical education accreditation council astellas frcs pvi continuing medical education accme pharmacy education acpe practice aids peerview institute bayer healthcare pharmaceuticals inc cme moc aapa ipce
Connect My Brain
181. Genomic Testing: Building a Health Plan Based on YOUR Unique Blueprint | Truth Bombs

Connect My Brain

Play Episode Listen Later Jan 8, 2026 4:57


Longevity by Design
From Genomics to Healthspan: Dr. Wei-Wu He's Vision for Preventing Disease

Longevity by Design

Play Episode Listen Later Jan 7, 2026 80:46


In this episode of Longevity by Design, host Dr. Gil Blander sits down with Dr. Wei-Wu, Executive Chairman at Human Longevity, Inc. Together, they explore how advances in genome sequencing, AI, and multi-layered diagnostics are changing the fight against age-related diseases. Wei-Wu shares why understanding your own genetic risks and combining them with other health data leads to better prevention and a longer healthspan.Wei-Wu explains the value of integrating genome sequencing, advanced imaging, and liquid biopsy to catch diseases like cancer early, before symptoms appear. He draws on real-world examples, including how combining different tests can spot cancers that single methods might miss. The conversation highlights how technology brings down costs, making once-rare insights widely available, and how each person stands to benefit from personalized risk profiles.The episode closes with practical advice: use today's tools to become the CEO of your own health. Wei-Wu urges listeners to embrace data-driven, individualized care and stresses that no single tool or habit holds all the answers. Instead, true longevity comes from a holistic, ongoing approach, one that uses all available knowledge to prevent disease and extend both life and health.Guest-at-a-Glance

OffScrip with Matthew Zachary
[WALK IT OFF EP1] MAN UP

OffScrip with Matthew Zachary

Play Episode Listen Later Jan 6, 2026 33:17


Trevor Maxwell lived the archetype of masculinity in rural Maine. Big, strong, splitting wood, raising kids, and carrying the load. Then cancer ripped that script apart. In 2018 he was bedridden, emasculated, ashamed, and convinced his family would be better off without him. His wife refused to let him disappear. That moment forced Trevor to face his depression, get help, and rebuild himself. Out of that came Man Up To Cancer, now the largest community for men with cancer, a place where men stop pretending they are bulletproof and start being honest with each other.Eric Charsky joins the conversation. A veteran with five cancers, forty-nine surgeries, and the scars to prove it, Eric lays out what happens when the military's invincible mindset collides with mortality. Together, we talk masculinity, vulnerability, sex, shame, and survival. This episode is blunt, raw, and overdue.RELATED LINKSMan Up To CancerTrevor Maxwell on LinkedInDempsey CenterEric Charsky on LinkedInStupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Causes Or Cures
They Received an Experimental Vaccine for Advanced Breast Cancer Decades Ago. They're Still Alive Today—Dr. Zachary Hartman on the Science

Causes Or Cures

Play Episode Listen Later Jan 5, 2026 46:15


Send us a textWhat if cancer didn't have to be eradicated, but could be remembered, monitored, and controlled by the immune system itself?In this episode of Causes or Cures, Dr. Eeks speaks with Dr. Zachary Hartman, the lead researcher who revisited an extraordinary breast cancer vaccine trial conducted over 20 years ago. The trial involved a small group of women with advanced breast cancer. Women who, remarkably, are all still alive today.By analyzing their blood decades later, the research team discovered that these women still carried immune cells capable of recognizing their cancer, suggesting durable immune memory lasting more than two decades. (Study link here.)We discuss:The original breast cancer vaccine trial and what it was designed to do, in plain languageWhat it was like to discover that the women from the trial was still alive more than 20 years laterHow the immune systems of these women continued to recognize cancer cells long after the trialWhat CD27-positive immune cells are and why they matter, explained simplyWhy helper CD4 T cells may be just as important, or more important, than killer CD8 T cells when it comes to cancerWhat happened when researchers combined a CD27-boosting antibody with a cancer vaccine in miceWhat surprised the research team mostThe challenges of translating findings from mice to human trialsWhether cancer could someday be managed long-term by the immune systemHow generalizable this immune memory might be across different cancersWhat this research could mean for how we think about vaccines in a post-pandemic worldThe one key message the researcher hopes the public takes awayWhat's next in this line of researchThis episode offers a rare, hopeful (but scientifically grounded) look at how the immune system may be capable of remembering cancer for decades. Guest Bio: Dr. Zachary C. Hartman is an Associate Professor at Duke University in the Departments of Surgery, Pathology, and Integrative Immunobiology, where he also serves as Director of the Center for Applied Therapeutics and is a member of the Cellular and Molecular Biology and Genetics and Genomics programs. He earned his undergraduate degree from Northwestern University and completed his PhD at Duke University, followed by postdoctoral training in tumor immunology and breast oncology at Duke and the MD Anderson Cancer Center. In 2012, Dr. Hartman returned to Duke to establish a research program focused on tumor immunology and the development of cancer immunotherapies, including therapeutic vaccines, immune agonists, checkpoint inhibitors, antibody-based therapies, and strategies to stimulate anti-tumor immune responses.  Work with me? Perhaps we are a good match. You can contact Dr. Eeks at bloomingwellness.com.Follow Eeks on Instagram here.Follow Public Health is WeirdOr Facebook here.Or X.OnSupport the show

OffScrip with Matthew Zachary
Koby & Hannah's 2025 Holiday Podcast Spectacular

OffScrip with Matthew Zachary

Play Episode Listen Later Dec 30, 2025 28:46


The most anticipated annual tradition on Out of Patients returns with the 2025 Holiday Podcast Spectacular starring Matthew's twins Koby and Hannah. Now 15 and a half and deep into sophomore year, the twins deliver another unfiltered year end recap that longtime listeners wait for every December. What began as a novelty in 2018 has become a time capsule of adolescence, parenting, and how fast childhood burns off.This year's recap covers real moments from 2025 A subway ride home with a bloodied face after running full speed into that tree that grows in Brooklyn. Broadway obsessions fueled by James Madison High School's Roundabout Youth Ensemble access, including Chess, & Juliet, Good Night and Good Luck, and Pirates of Penzance holding court on Broadway. A Disneylanmd trip where the Millennium Falcon triggered a full system reboot. A New York Auto Show pilgrimage capped by a Bugatti sighting. All the things.The twins talk school pressure, AP classes, learner permit anxiety, pop culture fixation, musical theater devotion, and the strange clarity that comes with turning 15. The humor stays sharp, the details stay specific, and the passage of time stays undefeated. This episode lands where the show works best: family, honesty, and letting young people speak for themselves.FEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

OffScrip with Matthew Zachary
Hair Today, Gone Tomorrow: Jason Gilley

OffScrip with Matthew Zachary

Play Episode Listen Later Dec 23, 2025 40:20


Jason Gilley walked into adulthood with a fastball, a college roster spot, and a head of curls that deserved its own agent. Cancer crashed that party and took him on a tour of chemo chairs, pediatric wards, metal taste, numb legs, PTSD, and the kind of late night panic that rewires a kid before he even knows who he is.I sat with him in the studio and heard a story I know in my bones. He grew up fast. He learned how to stare down mortality at nineteen. He found anchors in baseball, therapy, and the strange friendships cancer hands you when it tears your plans apart. He owns the fear and the humor without slogans or shortcuts. Listeners will meet a young man who refuses to let cancer shrink his world. He fights for the life he wants. He names the truth without apology. He reminds us that survivorship stays messy and sacred at the same time. This conversation will stay with you.RELATED LINKS• Jason Gilley on IG• Athletek Baseball Podcast• EMDR information• Children's Healthcare of AtlantaFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

OffScrip with Matthew Zachary

Dr. Marissa Russo trained to become a cancer biologist. She spent four years studying one of the deadliest brain tumors in adults and built her entire research career around a simple, urgent goal: open her own lab and improve the odds for patients with almost no shot at survival. In 2024 she applied for an F31 diversity grant through the NIH. The reviewers liked her work. Her resubmission was strong. Then the grant system started glitching. Dates vanished. Study sections disappeared. Emails went silent. When she finally reached a program officer, the message was clear: scrub the DEI language, withdraw, and resubmit. She rewrote the application in ten days. It failed. She had to start over. Again. This time with her identity erased.Marissa left the lab. She found new purpose as a science communicator, working at STAT News through the AAAS Mass Media Fellowship. Her story captures what happens when talent collides with institutional sabotage. Not every scientist gets to choose a Plan B. She made hers count.RELATED LINKSMarissa Russo at STAT NewsNIH F31 grant story in STATAAAS Mass Media FellowshipContact Marissa RussoFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.