The Genetics Podcast

Sano Genetics
  • 4.8 (51)
  • MZGenre.Podcasts.NaturalSciences
  • MZPodcastFrequency.Episodic.Biweekly

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. 6d ago

    EP 258: The mutations hiding in healthy tissues with Inigo Martincorena of the Wellcome Sanger Institute

    This week on The Genetics Podcast, Patrick is joined by Dr. Inigo Martincorena, Group Leader at the Wellcome Sanger Institute. They discuss the discovery of widespread cancer-driver mutations in normal tissue, the role of somatic mutations in autoimmune disease, new sequencing technologies transforming the field, and the therapeutic potential of targeting these mutations. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Inigo  01:46 How Inigo's eyelid skin study revealed widespread cancer-driver mutations 07:14 Findings from a follow-up study on esophageal tissue 10:02 How NanoSeq technology scaled somatic mutation research across tissues 12:34 The thyroid study linking somatic mutations to autoimmune disease 17:07 How escaped B cell clones evolve into polyclonal autoimmune disease 20:21 Immune gene mutations occurring in healthy aging lymphocytes 21:21 Why driver mutation clones in normal tissue rarely become cancer 24:16 Two therapeutic paradigms for targeting somatic mutations in disease 28:13 Examples of somatic rescue mutations in the colon, liver, and blood 29:20 Why clonal selection only occurs in dividing cell types 31:20 The field's remaining blind spots in mobile immune cells and rare samples 33:46 How new single-cell sequencing will link genotype to phenotype 36:03 What Inigo has learned from collaborating across Sanger's expertise 38:09 Closing remarks Find out more Eyelid study Esophagus study

    EP 258: The mutations hiding in healthy tissues with Inigo Martincorena of the Wellcome Sanger Institute

  2. Sep 17

    EP 257: Managing hereditary cancer risk and medical uncertainty with Marleah Dean Kruzel of the University of South Florida

    This week on The Genetics Podcast, Patrick is joined by Dr. Marleah Dean Kruzel, Professor of Communication at the University of South Florida. They discuss her personal path from watching breast cancer move through her family to testing positive for a hereditary mutation herself, the ART framework she developed for managing uncertainty, and the complexities of communicating genetic risk within families. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Marleah 01:35 Marleah's family history of breast cancer across four generations 02:48 Marleah's childhood living through her mother's five-year cancer battle 04:26 Marleah's experience with genetic testing 07:19 How a positive test result reshaped Marleah’s PhD research focus 08:40 The central challenges of living with a positive test result  10:50 The ART framework for managing hereditary cancer uncertainty 15:06 Applying the ART framework to Patrick’s experience with uncertainty and the importance of having a support system  19:53 Common misconceptions in how families communicate genetic risk 23:54 The previvor identity and the chronic uncertainty it brings 25:40 How Marleah has learned to accept and embrace uncertainty 27:57 Balancing logic and emotion in hereditary cancer family planning 31:28 How Marleah grounds her research tools in patients' lived experience 33:21 How AI is eroding our capacity to sit with uncertainty 35:57 Redesigning healthcare for a lifespan of genetic risk information 38:10 Closing remarks

    EP 257: Managing hereditary cancer risk and medical uncertainty with Marleah Dean Kruzel of the University of South Florida

  3. Sep 10

    EP 256: Cutting through the AI hype in drug discovery with Dave Hallett of Recursion

    This week on The Genetics Podcast, Patrick is joined by Dr. David Hallett, Chief Scientific Officer at Recursion. They discuss the biggest shifts in drug discovery over Dave's three-decade career, where AI is genuinely transforming the field today versus where the hype outruns the reality, and how Recursion's perturbational maps have uncovered and validated a novel neurodegeneration target. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Dave 01:57 The biggest shifts in drug discovery over three decades 06:39 Where AI is delivering real wins across drug discovery today 12:19 How AI-assisted trial simulation reveals which eligibility criteria to relax 14:46 The three biggest reasons drug programs fail in the clinic  18:20 How Recursion's perturbational maps uncover new drug targets 24:58 A four-step framework for validating a novel drug target 28:44 How Recursion balances deep therapeutic focus with partnership breadth 30:52 Why AI can't shortcut clinical trials, and what proof of real impact looks like 34:57 The skills scientists need most in the AI era, and why trusting AI outputs starts with trusting the data 39:52 Closing remarks Find out more: Recursion (https://www.recursion.com/)

    EP 256: Cutting through the AI hype in drug discovery with Dave Hallett of Recursion

  4. Sep 3

    EP 255: Turning long-read sequencing into a routine part of clinical care with Danny Miller of the University of Washington

    This week on The Genetics Podcast, Patrick is joined by Dr. Danny Miller, Assistant Professor of Pediatrics and of Laboratory Medicine and Pathology at the University of Washington and Attending Physician at Seattle Children's Hospital. They discuss the case for making long-read sequencing the first genetic test every patient receives, the reference dataset his lab is building from the 1000 Genomes Project to resolve structural variants, publicly available methylation signatures as biomarkers for diagnosis and treatment response, and his vision for genome-informed care from newborn screening through the NICU. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Danny 01:41 The case for long-read sequencing as first-line genetic testing 02:52 Current barriers to wider use of long-read sequencing  04:14 Building a long-read reference dataset from 1000 Genomes for variant filtering 06:47 How long-read sequencing can solve a missed diagnosis  08:12 The clinical case for complete telomere-to-telomere genomes 10:39 What it will take to shift the clinical genetics status quo 12:06 Making methylation signatures public to diagnose disease and track therapy 15:58 Danny's path from programming and finance into clinical genetics 18:19 Danny's lived experience with deafness and achondroplasia, and how it shapes his approach to genetic counseling 21:46 Danny's optimism about AI in genomics and worry about AI in education 27:15 The path to making genomes a routine part of the medical record 29:47 The vision of same-day newborn genomic data guiding NICU treatment decisions 34:31 Closing remarks Find out more: Miller Lab (https://millerlaboratory.com/)

    EP 255: Turning long-read sequencing into a routine part of clinical care with Danny Miller of the University of Washington

  5. Aug 27

    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

  6. Aug 20

    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

  7. Aug 13

    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

  8. Aug 6

    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
See All (258)

4.8
out of 5
51 Ratings

About

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

Information

  • Creator
    Sano Genetics
  • Years Active
    2019 - 2026
  • Episodes
    258
  • Rating
    Clean
  • Copyright
    © Sano Genetics
  • Show Website
    The Genetics Podcast

You Might Also Like