The Genetics Podcast

Sano Genetics
  • 4.8 (51)
  • Natural Sciences
  • Updated 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. 2d ago

    EP 262: The genetic drivers of hemochromatosis, drug response, and multimorbidity with Luke Pilling of the University of Exeter

    This week on The Genetics Podcast, Patrick is joined by Dr. Luke Pilling, Senior Lecturer in Genetic Epidemiology at the University of Exeter. They discuss hemochromatosis and the case for earlier diagnosis, and the genetic drivers of multimorbidity, pharmacogenetics, and drug response. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Luke  01:37 An overview of HFE hemochromatosis and why diagnosis is delayed  04:24 Iron levels and overload risk in heterozygous and compound heterozygous carriers 05:51 Aging-related effects seen in homozygotes  06:43 How hemochromatosis is currently diagnosed and detected in the UK 09:26 Future screening and case finding, including the Our Future Health cohort 11:28 Genetic and environmental factors that shape outcomes in C282Y homozygotes  13:28 The GEMINI project and the genetic drivers of multimorbidity 15:56 Drug targets from multimorbidity genetics, including repurposing and opposite effects 18:49 Using disease sequences in health records to look for earlier intervention points in multimorbidity 21:21 Data gaps limiting multimorbidity research, from primary care records to proteomics 23:17 Handling misdiagnosis and clinical code accuracy in health record research 24:55 International collaborations and the need for more diverse biobank data 26:08 Pharmacogenetics research and how genetic variants shape drug response 29:04 Limited clinical examples of pharmacogenetics and lessons from non-responders 33:08 Genetics of lifespan and healthy aging, and why geroscience pathways rarely appear in GWAS 36:06 Luke’s future research focuses  40:39 Closing remarks Find out more: - Hereditary hemochromatosis study - Multimorbidity study - Pharmacogenetics framework study

    EP 262: The genetic drivers of hemochromatosis, drug response, and multimorbidity with Luke Pilling of the University of Exeter

  2. Oct 15

    EP 261: Inside the virtual biotech staffed by AI agents with James Zou of Stanford University

    This week on The Genetics Podcast, Patrick is joined by Dr. James Zou, Associate Professor of Biomedical Data Science at Stanford University. They discuss the concept of virtual biotechs and how AI agents link single cell data to clinical trial success, Paper to Agent and turning papers into living virtual authors, clinical AI from EchoNet to SleepFM, and the role of academia alongside big AI labs. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to James  01:55 An overview of James’s virtual biotech and its AI scientist agents 04:11 How single cell evidence behind drug targets predicts clinical trial success 06:33 Behind the scenes of how autonomous the virtual biotech agents are 08:06 Missing proprietary trial data as the next gap for the virtual biotech 09:44 Scaling the number of collaborating AI agents as a new frontier for drug discovery 12:29 How teamwork and structure evolved among the agents  15:53 Behind the idea of Paper to Agent and virtual authors 19:01 What converting over 100 papers into agents revealed about reproducibility 23:14 The story behind EchoNet, an FDA-cleared AI tool for cardiac ultrasound 26:28 Predicting risk for over 100 future diseases from one night of sleep 27:40 Transferring SleepFM from sleep labs to consumer wearables 28:43 Combining multimodal health data to predict disease 30:10 Longitudinal blood proteomics as the biggest data gap for health AI 31:18 The role of academia as an open, neutral counterweight to big AI labs 32:51 How James’s path from Cambridge math and Harvard machine learning led to biology 34:41 Closing remarks Find out more Virtual biotech paper (https://www.science.org/doi/10.1126/science.aeg6779) Paper2Agent paper (https://www.nature.com/articles/s41586-026-11044-y)

    EP 261: Inside the virtual biotech staffed by AI agents with James Zou of Stanford University

  3. Oct 8

    EP 260: How AI is reshaping genomics, disease prediction, and biosecurity with Jeffrey Barrett of the University of Helsinki

    This week on The Genetics Podcast, Patrick is joined by Dr. Jeffrey Barrett, Group Leader at the Ellis Institute Finland and the University of Helsinki. They discuss using AI and federated biobank data to stratify common chronic diseases, how LLMs reading clinical notes in Finland's health registries can reveal treatment response, how AI is changing the way scientists research and train, and what the UK's COVID genome sequencing effort means for biosecurity. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Jeff  02:08 Jeff's research focus for his new lab, including molecular subtyping of common chronic diseases with AI 06:18 Barriers to pooling biobank data across research environments for federated AI models 11:00 Why Jeff expects larger datasets to make complex models better at predicting disease 13:34 The three disease areas Jeff's lab will target first: cardiometabolic, inflammatory and neuropsychiatric 19:41 Using LLMs to read clinician notes in Finland's health registries for treatment response 24:50 How Jeff uses AI in his research and where humans still need to read and review 31:08 Using Claude to understand papers and the gaps in its literature searches 32:14 Jeff on AI solving open problems in mathematics and biology, and where researchers fit 35:48 Simultaneous discoveries and why lab data generation still needs experts 39:01 Jeff's COVID genome sequencing at Sanger and what it means for AI and biosecurity 43:16  Closing remarks

    EP 260: How AI is reshaping genomics, disease prediction, and biosecurity with Jeffrey Barrett of the University of Helsinki

  4. Oct 1

    EP 259: A patient community driving awareness and research for Danon disease with Jenny Hsieh of the Danon Foundation

    Summary This week on The Genetics Podcast, Patrick is joined by Jenny Hsieh, Co-Founder and President of the Danon Foundation. They discuss how Danon disease affects males and females, why it is so often misdiagnosed, the current therapy landscape and research priorities, and how families can make informed decisions about gene therapy trials. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Jenny  01:28 An overview of Danon disease 02:34 Sex differences in Danon disease and severe disease in females 05:15 Why Danon disease is misdiagnosed and how it may be spotted earlier 08:50 Therapy pipeline for Danon and the Foundation's global patient coordination 13:46 Origin story of the Danon Foundation 18:10 Research priorities and the burden of Danon disease beyond the heart 22:39 Raising genetic testing awareness among ophthalmologists and cardiologists for Danon disease 25:20 Recognizing broader Danon symptoms and launching the first Danon Awareness Day 29:37 Informed consent and trial literacy for families weighing gene therapy 33:14 Patient-friendly trial experiences 36:19 Ways to support Danon research 37:37 Closing remarks Find out more Danon Foundation

    EP 259: A patient community driving awareness and research for Danon disease with Jenny Hsieh of the Danon Foundation

  5. Sep 24

    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

  6. 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

  7. 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

  8. 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
See All (262)

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
    262
  • Rating
    Clean
  • Copyright
    © Sano Genetics
  • Show Website
    The Genetics Podcast

You Might Also Like