The Genetics Podcast

Sano Genetics
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Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com

  1. hace 2 h

    EP 254: Triangulating genetic evidence and dodging bias to pick winning drug targets with Brent Richards of 5 Prime Sciences

    This week on The Genetics Podcast, Patrick is joined by Dr. Brent Richards, CEO and Founder of 5 Prime Sciences and Professor of Human Genetics, Epidemiology, and Medicine at McGill University. They discuss how to triangulate different types of genetic evidence to validate a drug target, why herd psychology often drives which targets get funded, why strong genetic support didn't save the Zeus IL-6 trial, and how collider bias can distort genetically stratified clinical trials. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Brent 01:43 How company size shapes access to genetic drug discovery tools 04:10 Brent's framework for triangulating different types of genetic evidence 06:50 The herd psychology behind which drug targets get funded 10:01 Potential reasons the Zeus IL-6 trial failed despite strong genetic evidence 12:49 What a gold standard genetic evidence package actually looks like  17:13 Closing the data gap with diverse genomes and systematic pipelines 19:03 The diabetes patient story that drove Brent into drug development and balancing academia with industry 25:39 Why obesity went from a drug development graveyard to its biggest frontier 29:13 How collider bias can distort genetic risk trial results 38:20 Where to go deeper on advanced genetic drug discovery concepts 40:11 Closing remarks Find out more: 5PrimeSciences’ symposium on human genetics at ASHG2026 in October

    EP 254: Triangulating genetic evidence and dodging bias to pick winning drug targets with Brent Richards of 5 Prime Sciences

  2. 20 ago

    EP 253: The genetics of brain size, growth, and aging with Andrew Jackson of the University of Edinburgh

    This week on The Genetics Podcast, Patrick is joined by Dr. Andrew Jackson, Programme Leader at the MRC Human Genetics Unit at the University of Edinburgh. They discuss how his lab discovered that gain-of-function DNMT3A mutations cause both microcephalic dwarfism and an accelerated aging syndrome, and what that reveals about the shared biology of growth and aging. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Andrew 01:34 The origins of Andrew's work linking brain size and aging 02:54 The genetics of mammalian size range and epigenetic factors regulating growth 05:02 How DNMT3A mutations causing dwarfism led to discovering an accelerated aging syndrome 09:46 Cell number rather than cell size as the shared driver of growth and aging 13:07 Whether brain size within humans actually predicts cognitive ability 15:20 Why intellectual disability has far more known genes than dwarfism 19:26 Discovering ribonuclease H2's role in DNA repair, and its unexpected link to cancer  23:35 Why studying rare monogenic diseases reveals broader biology 26:59 Andrew's next research questions on aging, cancer, and mutation biology 28:42 Why humans, model organisms, and cell assays each have a role 31:00 Somatic mosaicism's growing role in aging and disease beyond cancer 36:11 Closing remarks Find out more: Mentioned studies from Andrew’s lab:  https://www.nature.com/articles/s41588-026-02633-8 https://www.nature.com/articles/s41588-018-0274-x

    EP 253: The genetics of brain size, growth, and aging with Andrew Jackson of the University of Edinburgh

  3. 13 ago

    EP 252: The diagnosis that became a mission to cure rare disease: Advancing genetic medicine using AI with Stevie Ringel of Nome

    This week on The Genetics Podcast, Patrick is joined by Stevie Ringel, co-founder of Nome and founder of the Kizuna Foundation. They discuss Stevie's own ultra-rare disease diagnosis and shaped his path to founding Kizuna Foundation and Nome, how Nome's AI agents help scientists navigate the operational complexity of small-batch drug development, the technical and business model advantages underpinning Nome's accuracy, and what it will take to build a sustainable funding model for ultra-rare disease. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Stevie 01:37 Stevie's inherited retinal disease (IRD) diagnosis and subsequent path into genomics 03:16 Why Stevie founded Kizuna Foundation and why ultra-rare drug development is so operationally complex 06:27 The origin story of Nome and using AI to automate the operational work  10:09 The inspiration for the name “Nome” and who the company is built to serve 12:44 The biggest blockers to program speed 15:07 How AI and scale can bring down the cost of gene therapy manufacturing 18:01 FDA signals and global regulatory competition  19:33 Priority review vouchers and why Nome stays out of molecule IP 20:33 Nome's AI and review process for patient reports and its expansion to health systems 25:04 Nome's agent architecture and the data behind its accuracy 28:17 Why delivery remains gene therapy's biggest bottleneck and approaches for solving it 31:34 The case for a new capital model in rare disease drug development  33:25 What’s next for Nome as they advance preclinical programs 34:25 Nome’s focus on process excellence across therapeutic modalities 36:34 Closing remarks Find out more: Nome

    EP 252: The diagnosis that became a mission to cure rare disease: Advancing genetic medicine using AI with Stevie Ringel of Nome

  4. 6 ago

    EP 251: Cracking the delivery barrier in genetic medicine with Jagesh Shah of Mirai Bio

    This week on The Genetics Podcast, Patrick is joined by Dr. Jagesh Shah, Chief Scientific Officer at Mirai Bio. They discuss why delivery is a central bottleneck holding back nucleic acid medicines, how Mirai's lipid nanoparticle (LNP) platform is built to reach tissues like adipocytes and T cells, and the machine learning feedback loop the company uses to engineer LNP formulations. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Jagesh 01:40 Why delivery is the main bottleneck for gene therapies 03:42 Easier vs harder tissues to target for delivery 06:40 Overview of Mirai's modular delivery platform  09:02 Comparing viral vectors and lipid nanoparticles (LNPs)  12:18 Different approaches for targeting adipocytes and T cells with LNPs 15:49 Mirai's machine learning (ML) feedback loop for optimizing LNP formulation 20:50 Why lipid chemistry is still hard for ML to learn and factors affecting LNP tropism 24:35 Jagesh's path from academia to Mirai 27:23 Mirai's platform business model and how it lowers risk 29:13 What industry partnerships with Mirai look like 31:41 Mirai's next frontier of delivery to muscle tissue and the brain  34:40 Cargo size and immunogenicity of LNPs vs AAV  36:00 Why the field needs to close the regulatory pace gap  37:19 Closing remarks Find out more: Mirai Bio

    EP 251: Cracking the delivery barrier in genetic medicine with Jagesh Shah of Mirai Bio

  5. 30 jul

    EP 250: Redefining rare disease realities with Sharon Terry of the Genetic Alliance [Re-run]

    This week on The Genetics Podcast, Patrick is joined by Sharon Terry, President & CEO of Genetic Alliance. They discuss how Sharon established a layperson-led biobank, her long-term work on rare diseases and patient advocacy, and her program to bring genetic technology to patients in low- to middle-income countries. We’re re-running this episode for its enduring lessons on patient advocacy, rare disease parenting, communication, and citizen science.  Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Sharon and a discussion of the personal experience with rare disease that started her journey 03:47 Reasons Sharon decided to establish the first layperson-led biobank 05:34 Challenges with setting up the biobank infrastructure 07:00 Balancing financial factors in a non-profit organization  09:30 Recent patterns and future insight into rare disease drug discovery framework and regulation 15:32 Barriers to widespread collaboration and cooperation in rare disease research, and why it should be approached from a public health perspective 18:12 Background and experiences from the iHope Genetic Health program in low- to middle-income countries 24:44 Sharon’s perspective on challenges with the Genetic Information Non-discrimination Act 28:49 Sharon’s lessons learned in her patient advocacy and policy work, and her hopes for future legislation 33:04 Sharon’s hopes for improved access to genetic testing and treatment for children in underserved communities 34:34 How Sharon learned about rare diseases and genetics as a “homeschooling mom without a degree” 37:54 Insights into how elements of spirituality can support advocacy work 40:18 Closing remarks

    EP 250: Redefining rare disease realities with Sharon Terry of the Genetic Alliance [Re-run]

  6. 23 jul

    EP 249: Building the world's most detailed genetic map of inflammatory bowel disease with Carl Anderson of the Wellcome Sanger Institute

    This week on The Genetics Podcast, Patrick is joined by Dr. Carl Anderson, Senior Group Leader and Head of the Human Genetics Programme at the Wellcome Sanger Institute, where he leads the Genomics of Inflammation and Immunity Group. They discuss IBDVerse, the single-cell atlas Carl's team built to map genetic effects on gene regulation across gut cell types, how coding and non-coding variants converge on shared biological pathways in inflammatory bowel disease, and Carl's vision for longitudinal multi-omics cohorts built around the sickest and most underrepresented hospital patients. Show Notes 0:00 Intro to The Genetics Podcast 00:58 Welcome to Carl 02:05 The origins of IBDVerse and mapping genetic effects on gene regulation across gut cell types in IBD 05:43 How anti-TNFs and newer genetically-supported IBD drugs have reshaped treatment  08:04 Genetic versus environmental contributions to IBD 09:53 Using single-cell data to uncover IBD disease subtypes 13:22 Drug sequencing and immunogenicity in treatment response 16:52 The backstory of building the IBDVerse atlas at scale 20:29 How coding and non-coding IBD variants converge on the same genes and pathways 23:38 The case for pathway-specific polygenic risk scores 28:17 Building a longitudinal multi-omics dataset to predict IBD progression and drug response 30:08 Why Sanger's next cohort targets sick and underrepresented patients rather than healthy volunteers 34:07 What Carl looks for when interviewing PhD students and faculty candidates  39:20 A call to junior scientists and closing remarks Find out more: IBDverse study

    EP 249: Building the world's most detailed genetic map of inflammatory bowel disease with Carl Anderson of the Wellcome Sanger Institute

  7. 16 jul

    EP 248: The blood mutations rewriting cardiovascular risk: Clonal hematopoiesis and polygenic risk with Pradeep Natarajan of Massachusetts General Hospital

    This week on The Genetics Podcast, Patrick is joined by Dr. Pradeep Natarajan, Director of Preventive Cardiology at Massachusetts General Hospital and Associate Professor of Medicine at Harvard Medical School. They discuss the discovery of clonal hematopoiesis as a driver of cardiovascular disease, the inflammatory mechanisms and emerging therapies targeting it, the growing clinical case for polygenic risk scores, and Pradeep's upcoming move to lead cardiometabolic and human genetics research at Amgen. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Pradeep 01:30 The origin story of clonal hematopoiesis (CH) as a cardiovascular risk factor  09:41 CH mutations such as TET2 that are linked to cardiovascular disease 12:27 Evidence tying inflammation to CH and drugs that could target it 16:49 TenSixteen Bio’s strategy for targeting CH and the challenge of finding the right patients 21:33 Trajectory of CH across age and somatic mosaicism beyond blood 26:44 How polygenic risk scores fill a gap in cardiovascular risk prediction 34:49 The future clinical applications of polygenic risk scores 39:20 The challenge of standardizing polygenic risk scores for clinical and regulatory use 42:27 Pradeep's move to pharmaceutical company Amgen and his reasons for it 46:23 Closing remarks Find out more: Clonal hematopoiesis paper

    EP 248: The blood mutations rewriting cardiovascular risk: Clonal hematopoiesis and polygenic risk with Pradeep Natarajan of Massachusetts General Hospital

  8. 9 jul

    EP 247: Why neurons accumulate mutations like clockwork: Somatic mosaicism and neurodegeneration with Christopher Walsh of Boston Children's Hospital

    This week on The Genetics Podcast, Patrick is joined by Dr. Christopher Walsh, Professor of Pediatrics and Neurology at Harvard Medical School, Chief of Genetics and Genomics at Boston Children's Hospital, and HHMI Investigator. They discuss his path from neurobiology to human genetics, how somatic mosaicism in the brain drives disease from epilepsy to Alzheimer's, and what this reveals about new therapeutic targets for neurodegeneration. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Chris 01:18 Chris’ path from neurobiology to human genetics 04:55 How collaboration and mentorship have shaped Chris' career 06:59 Somatic mosaicism and genetic mutations in the brain, from epilepsy to Alzheimer’s 13:56 Repurposing cancer therapeutics and targeting DNA damage as new approaches to Alzheimer's 15:29 A shared pattern of DNA damage across neurodegenerative diseases and the mechanism behind it 19:36 How healthy neurons accumulate mutations with age and what that means for the brain 23:21 How mutation rates and patterns vary across cell types 26:23 How genome quality control and synaptic pruning may explain both brain development and neurodegeneration 30:33 Why some people maintain a healthy brain into old age 33:57 Chris’ advice for early-career scientists on pursuing goals 36:43 Closing remarks Find out more: https://walshlab.org/

    EP 247: Why neurons accumulate mutations like clockwork: Somatic mosaicism and neurodegeneration with Christopher Walsh of Boston Children's Hospital
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Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com

Información

  • Creador
    Sano Genetics
  • Años de actividad
    2019 - 2026
  • Episodios
    254
  • Clasificación
    Apto
  • Copyright
    © Sano Genetics
  • Mostrar sitio web
    The Genetics Podcast

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