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
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
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
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
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/
This week on The Genetics Podcast, Patrick is joined by Yentli Soto Albrecht, physician-scientist in training and founder of CureC9. They discuss how losing her father to C9orf72 ALS, and later learning her own genetic risk, reshaped the direction of her career. The conversation explores the biology linking the C9 repeat expansion to ALS and FTD, and how CureC9 is removing barriers across biomarkers, therapeutics, and patient samples to accelerate progress toward a cure. Show Notes 0:00 Intro to The Genetics Podcast 00:58 Welcome to Yentli 02:34 How Yentli's father's C9 ALS diagnosis and her own genetic risk led her to pivot her research career toward curing it 06:41 The biology of the C9orf72 repeat expansion and how TDP-43 dysregulation links it to ALS and FTD 11:40 Therapeutic strategies targeting TDP-43 pathology in ALS and FTD 15:35 The state of biomarkers for ALS and FTD, and why C9-FTD trials lag behind ALS 22:08 How Yentli is lowering barriers for biomarker, cell line, and drug development through CureC9 30:40 Call for collaborators and where to follow Yentli 32:59 Closing remarks Find out more: CureC9
This week on The Genetics Podcast, we're re-airing our conversation with Eric Green, Founder and CEO of Trace Neuroscience, Co-Founder and Chief Scientific Officer at Maze Therapeutics, and Adjunct Clinical Assistant Professor at Stanford University School of Medicine. Patrick and Eric discuss Eric's transition from cardiology to entrepreneurship, the role of highly focused biotechs in creating precision therapies, and the development of high-impact gene therapies for people with amyotrophic lateral sclerosis (ALS). We're revisiting this episode following Trace Neuroscience's recent announcement that the first patient has been dosed with its antisense oligonucleotide (ASO) designed to restore UNC13A function in ALS. Show Notes 0:00 Intro to The Genetics Podcast 02:03 Welcome to Eric, his background in cardiology, and how he got into biotech 06:23 Eric’s experience incubating and spinning out early-stage companies with Third Rock Ventures and developing Maze Therapeutics 09:13 Eric’s decision to transition from academia to the world of biotech 11:24 Building Maze Therapeutics and Eric’s focus on and genetic modifiers to discover new drugs 15:09 The growth of therapeutic modalities in the context of genetics and gene therapies 16:48 What led Eric to launch Trace Neuroscience to develop ALS therapies 28:35 The process of getting Trace’s ALS therapies into the clinic 32:22 The identification of therapeutic value in low odds ratio genes 35:58 Eric’s view on the APOA1 gene target and its major effect size in kidney disease 40:03 How best to integrate genetics and genetic discovery into small and medium biotechs 41:50 Closing remarks Find out more Trace Neuroscience https://www.businesswire.com/news/home/20260622451252/en/Trace-Neuroscience-Initiates-Global-Clinical-Development-Program-for-TRCN-1023-an-Antisense-Oligonucleotide-Designed-to-Restore-UNC13A-Function-for-the-Treatment-of-ALS
This week on The Genetics Podcast, Patrick is joined by Dr. Timothy Yu, Associate Professor of Pediatrics at Harvard Medical School and Physician/Researcher at Boston Children’s Hospital. They discuss how one child’s hidden genetic mutation led Tim into individualized ASO medicine, what it takes to develop n-of-1 therapies, and how new regulatory frameworks could expand treatment options for children with ultra-rare genetic disease. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Tim 02:05 How uncovering the genetic mutation underlying an ultra-rare disease led Tim into personalized ASO medicine 07:38 Challenges in developing a custom ASO 12:25 How Tim’s team has scaled individualized ASO therapies to reach more than 50 patients worldwide 16:18 Measuring clinical benefit in n-of-1 therapies with natural history data, wearables, and biomarkers 20:24 How the N-of-1 Collaborative helps rare disease researchers share infrastructure 24:28 Comparing ASOs, base editing, and prime editing for individualized rare disease therapies 30:06 Finding scalable models for n-of-1 therapies in newborn genetic disease 33:52 The potential impact of the FDA’s Plausible Mechanism framework on bespoke therapies 36:58 Connecting rapid newborn genome sequencing to earlier treatment for rare genetic disease 42:10 Closing remarks
This week on The Genetics Podcast, Patrick is joined by Dr. Cara Altimus, CEO of BD², and Dr. Benjamin Neale, Associate Professor at Harvard Medical School and Massachusetts General Hospital. They discuss how rare variant discovery is opening new routes into bipolar disorder biology, how BD² is combining genetics with longitudinal multimodal data, and how patient priorities are shaping a research model focused on faster diagnosis and more precise treatments. Show Notes 0:00 Intro to The Genetics Podcast 00:58 Welcome to Cara and Ben 01:57 The origin and aims of BD2 04:20 Major knowledge gaps in bipolar disorder genetics 06:43 Using genetics and deep phenotyping to map bipolar disorder biology 13:47 Why bipolar disorder genetics needs both scale and deep clinical data 17:32 Finding the most predictive data for bipolar disorder biology and care 19:19 The search for scalable biomarkers in bipolar disorder 21:35 How BD² is building a bridge from discovery to clinical trials 26:48 Why bipolar diagnosis takes years and what patients want research to solve 33:08 How BD² is looking to other programs as inspiration to build a new research model 35:31 What overlapping risk genes reveal across bipolar disorder, schizophrenia, and autism 37:40 How rare variants could de-risk precision psychiatry trials 41:25 How BD² is scaling from early milestones to global funder momentum 45:04 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link Find out more: BD2
This week on The Genetics Podcast, Patrick is joined by Dr. Angela Bradshaw, Director for Research at Alzheimer Europe and honorary lecturer at the University of Glasgow. Following a series of recent episodes exploring Alzheimer’s disease research, we’re revisiting this conversation to bring in an essential patient advocacy and nonprofit perspective on the field. Patrick and Angela discuss how Alzheimer Europe partners in and supports pan-European dementia research, the heterogeneity of dementia and Alzheimer’s disease, the future of potential new gene therapies, and the critical role advocacy organizations play in ensuring research reflects the needs and priorities of patient communities. Show Notes 0:00 Intro to The Genetics Podcast 01:27 Welcome to Angela and how she joined Alzheimer Europe 06:06 The biggest priorities and areas of focus for dementia and Alzheimer’s Disease (AD) research 10:10 Biomarkers for dementia and how early in disease development they can be utilized 12:40 The heterogeneity of dementia and AD and current understanding of subtypes and treatment journeys 17:20 The challenges of diagnosis, early identifiers, and the integration of genetics 18:53 Angela’s view on the latest breakthrough therapies 22:50 Partnering in and supporting dementia research efforts across 30+ European countries 29:15 Reimbursement frameworks and shared regulations across different countries 33:40 Angela’s thoughts on the near future of gene therapies for AD and dementia 38:04 Why Angela spent 50 hours travelling the length of Australia by bus 41:26 Closing remarks Find out more Alzheimer Europe Please consider rating and reviewing us on your chosen podcast listening platform!
This week on The Genetics Podcast, Patrick is joined by Salvador Rico, Chief Medical Officer at Encoded Therapeutics. With Encoded’s Dravet syndrome gene therapy program recently reaching major clinical and regulatory milestones, we’re revisiting this conversation on Salvador’s journey into drug development, his work on gene therapy for X-linked myotubular myopathy, and the fundamental challenges and exciting advances shaping the future of genetic medicine. Show Notes 0:00 Intro to The Genetics Podcast 01:27 Welcome to Salvador and how he became involved in drug development 11:29 Frustrations and rewards of the genetics field 14:27 Salvador’s study on gene therapy for patients with X-linked myotubular myopathy (XLMTM) 20:13 Risk of liver issues in gene therapy trials and attempts to mitigate them 24:50 Encoded Therapeutics‘ approach to drug discovery and what motivated Salvador to join the team 27:50 Steps towards therapeutic targeting of gene regulatory elements 30:32 Advantages of different methods for drug delivery 32:59 DNA- versus RNA-based therapy 35:24 Insights from approaches in other fields, including psychiatry 37:03 Considerations for using natural history studies 41:00 Expectations and goals for Encoded Therapeutics’ current and upcoming studies 43:45 Closing remarks Find out more Encoded Therapeutics New clinical data
This week on The Genetics Podcast, Patrick is joined by Dr. Vincent Dion, Group Leader at the UK Dementia Research Institute at Cardiff University. They discuss how repeat expansions drive Huntington’s disease and other neurological disorders, why DNA repair can sometimes worsen these mutations over time, and how CRISPR nickase editing could offer a new way to shrink disease-causing repeats rather than simply silence them. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Vincent 01:45 Working on origins-of-life chemistry in Stanley Miller’s lab 03:56 Vincent’s path to genetics 06:00 How somatic repeat expansion drives Huntington’s disease 09:40 Therapeutic strategies for Huntington’s disease 15:29 Using gene editing to shrink repeat expansions 18:31 Optimizing CRISPR nickase delivery and expression for repeat expansion editing 25:15 Moving gene editing from academic research toward a first-in-human trial 27:31 Clinical trial challenges for Huntington’s gene therapies and uniQure’s early data 30:47 Epigenetic regulation of repeat instability in neurodegenerative disease 33:14 How basic science breakthroughs like CRISPR become transformative biology tools 34:55 How academic couples navigate the two-body problem when building research careers 39:39 Developing biomarkers to measure whether DNA-targeting therapies are working 42:17 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!
This week on The Genetics Podcast, Patrick is joined by Dr. Paul Valdmanis, Associate Professor at the University of Washington. They discuss the impact of APOE4 on risk in Alzheimer’s disease, how long-read sequencing is uncovering hidden genetic variation in Alzheimer’s and ALS, and what rare variants and cryptic splicing can teach us about neurodegeneration. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Paul 01:40 Long-read sequencing and ancestry-specific APOE4 risk in Alzheimer’s disease 04:20 Key findings from Paul’s study on a protective APOE4-linked variant in Alzheimer’s disease 10:58 What rare PSEN1 and PSEN2 variants reveal about Alzheimer’s disease biology 14:38 Disease-specific genetic mechanisms in ALS versus Alzheimer’s 17:14 Precision therapies for neurodegenerative disease 18:35 Choosing therapeutic targets in the neurodegenerative disease cascade 20:21 Landscape of ALS and Alzheimer’s therapies 23:48 Lessons from liver-directed gene therapy on microRNA toxicity, cancer risk, and brain delivery challenges 29:12 Using long-read sequencing to uncover tandem repeat expansions missed by conventional genomics 33:26 Findings from a study of long-read sequencing on ancient genomes 38:06 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link Find out more: APOE study Ancestry study
This week on The Genetics Podcast, Patrick is joined by Dr. Bin Yu, CDSS Chancellor’s Distinguished Professor at UC Berkeley. They discuss how different statistical approaches, from linear models to random forests, can be used to study complex genetic traits, recent findings on epistasis in cardiomyopathy, and how improving robustness and reproducibility can lead to more reliable scientific conclusions. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Bin 01:47 Linear models as the foundation of genetic analysis 05:34 Using random forests and stability to identify gene–gene interactions beyond linear models 11:05 How iterative feature weighting in random forests improves detection of gene interactions 13:10 Using GWAS to prioritize features in high-dimensional genetic data 15:06 Applying stable interaction models to hypertrophic cardiomyopathy in UK Biobank 20:47 Biological insights from gene–gene interactions in cardiomyopathy and evidence for indirect epistasis 23:25 Scaling discovery of epistatic interactions with better data and integrated experimental validation 27:21 The predictability, computability, and stability (PCS) framework for data science 30:06 How Bin’s early life during the Chinese Cultural Revolution shaped her 32:54 Balancing AI-driven productivity with human reasoning and scientific thinking 35:23 Developing the ability to read people through observation, listening, and real-world interaction 38:03 Closing remarks Find out more: Epistasis in cardiac hypertrophy study https://vdsbook.com/
This week on The Genetics Podcast, Patrick is joined by Dr. Sarah Marzi, Senior Lecturer at King's College London and group leader at the UK Dementia Research Institute. They discuss the impact of genes and environment on neurodegenerative disease, including: how APOE genotype shapes microglial function, how cell type-specific epigenomics of postmortem brain tissue is revealing the role of microglia and oligodendrocytes in Alzheimer's disease, and how pesticide exposure drives selective dopaminergic neuron loss and neuroinflammation in Parkinson's. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Sarah 02:13 Environmental contributions to Parkinson’s disease and ALS 05:01 The role of microglia in Alzheimer’s disease and findings from a study on APOE variants in a mouse model 12:50 APOE4 effects on lipid accumulation, microglial activation, and vitamin D receptor signaling 14:20 Building a multi-omic atlas of the Alzheimer’s brain 18:01 Overview of the pathological cascade of events in the Alzheimer’s brain 20:31 Anti-amyloid therapies, early intervention, and combination treatment strategies 22:24 Rotenone exposure and microglial immune activation in Parkinson’s disease 29:24 Dopaminergic neuron vulnerability to pesticide exposure and mitochondrial dysfunction 31:04 Familial Parkinson’s genes, polygenic Alzheimer’s risk, and genetically targeted clinical trials 33:13 Polygenic risk and microglial cell state regulation in Alzheimer’s disease 34:13 Defining cell states in single cell RNA sequencing 35:30 Oligodendrocyte epigenetic and transcriptional changes in Alzheimer’s disease 37:23 Sarah’s most memorable hiking adventures 38:58 Closing remarks Find out more: Alzheimer’s APOE microglia xenotransplantation study Rotenone exposure Parkinson’s study
This week on The Genetics Podcast, Patrick is joined by Lindsey Wahlstrom, Co-Founder and Chief Momatologist of Rona’s FUN LAB, Jimi Olaghere, sickle cell disease patient advocate and early CRISPR gene therapy trial participant, and Rachel Smith, Vice President and Head of Rare and Genetic Diseases at Parexel. They discuss the realities of developing and delivering advanced therapies in rare disease, how funding models, regulation, and trial design shape access and outcomes, and why embedding patient experience early is critical to building therapies that are not only effective but scalable, accessible, and meaningful for patients and families. Show Notes: 0:00 Intro to The Genetics Podcast 01:00 Welcome to guests and what Rare Disease Day means to them 08:09 Balancing hope with funding, pricing, and access in advanced therapies 11:48 Why patient access must be built into drug development from day one 14:20 Patient engagement, community readiness, and the realities of trial participation 17:49 Why early patient input is still inconsistent and often treated as a checkbox 23:20 Designing trials around what actually matters to patients and families 26:53 Navigating regulators, payers, and trial design constraints in rare disease therapies 36:02 Redefining success in gene therapy around access, scalability, and real patient benefit 43:27 Closing remarks
This week on The Genetics Podcast, Patrick is joined by Dr. Suzanne Schindler, Associate Professor of Neurology at Washington University in St. Louis. They discuss how blood-based biomarkers like p-tau217 are transforming our ability to detect and stage Alzheimer’s disease, how “clock models” can estimate when symptoms may begin, and how combining biomarkers with clinical phenotyping could improve trial design, prognosis, and patient care. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Suzanne 01:35 Neurobiology of Alzheimer’s disease and how it differs from dementia 06:22 Presymptomatic changes to phosphorylated tau (p-tau) in the brain 07:36 The role of the APOE gene in Alzheimer’s 09:07 Differences in neuropathology in women vs men with Alzheimer’s 10:19 Rare cases where amyloid and tau pathology do not align in Alzheimer’s 12:37 Using plasma p-tau217 trajectories to estimate when Alzheimer’s symptoms may begin 17:30 Using p-tau217 to select clinical trial participants and predict progression timelines 20:59 Overview of therapeutic strategies in Alzheimer’s disease 24:24 Why APOE effects may not appear in p-tau217 measurements 26:30 Combining biomarkers and clinical phenotyping to understand disease progression in Alzheimer’s 30:08 Early-onset vs late-onset Alzheimer’s and differences in clinical presentation 31:45 Expanding beyond p-tau217 to proteomics and multimodal biomarkers for predicting symptoms 33:52 MTBR-tau243 as a more specific marker of tau pathology and Alzheimer’s symptoms 37:31 Expanding biomarkers beyond Alzheimer’s and bringing blood tests into clinical practice 38:49 Closing remarks Find out more: Phosphorylated tau217 study MTBR-tau243 study
This week on The Genetics Podcast, Patrick is joined by Derek Ansel, Global Vice President and Therapeutic Strategy Lead for Rare Disease and Oncology at Worldwide Clinical Trials. They discuss how contract research organizations design and run rare disease trials, the challenges of selecting endpoints and patient populations, and how emerging approaches like n-of-1 therapies, regulatory flexibility, and AI are reshaping clinical development. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Derek 01:38 The role of Contract Research Organizations (CROs) in clinical development 02:41 Why endpoints are the hardest problem in rare disease trial design 05:24 How Derek’s team chooses and operationalizes endpoints in rare disease trials 08:14 Balancing patient selection, signal detection, and trial feasibility in rare disease 11:55 How the FDA’s new guidance for personalized therapies could accelerate rare disease drug development 14:20 Patient engagement, genetic counseling, and decision-making in genetic trials 19:30 Patient and clinician dynamics in genetic subtypes of common disease 23:05 What needs to change to make n-of-1 therapies scalable and accessible 26:12 Where AI is delivering real impact in clinical trials today and where it is heading 31:24 Operational bottlenecks, risk tolerance, and the limits of AI adoption in clinical trials 34:55 Derek’s path from early clinical research roles to genetic counseling and rare disease drug development 38:51 Key areas driving progress in rare disease over the next five years 41:42 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!
This week on The Genetics Podcast, Patrick is joined by Dr. Tim Jobson, consultant physician and gastroenterologist at Somerset NHS Foundation Trust and Medical Director of Predictive Health Intelligence (PHI). They discuss the rising burden of metabolic liver disease and how routine clinical data can be used to detect disease earlier and prevent late-stage presentation. They also discuss the LiveWell study, a collaboration between Sano Genetics and PHI, and what it reveals about layering genetics and other data types to improve risk stratification and clinical trial recruitment. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Tim 01:50 The rise of metabolic liver disease and worsening mortality trends 04:35 Motivation and goals behind the Somerset Liver Improvement Program to address late diagnosis 09:13 Where genetics is already used in liver disease and where it’s still emerging 13:17 Current tools for staging liver disease and the challenge of predicting progression at scale 18:48 How the LiveWell study could improve risk prediction and reshape trial recruitment in liver disease 23:58 Applying longitudinal risk detection beyond liver disease to cardiometabolic and other chronic conditions 26:35 Using subtle changes in routine blood tests to identify cancer risk earlier 28:09 Using existing health data to drive earlier intervention and maximize patient impact 30:05 Expanding beyond liver disease, scaling early detection, and advancing precision medicine 32:18 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!
This week on The Genetics Podcast, Patrick is joined by Dr. Glenn Cohen, Professor at Harvard Law School. They discuss the evolving legal and ethical landscape of reproductive genetics, why regulation in areas like embryo selection remains limited, and questions arising around the use of AI in healthcare. Show Notes: 0:00 Intro to The Genetics Podcast 00:59 Welcome to Glenn 01:35 An overview of the courses Glenn teaches at Harvard Law School 02:29 Glenn’s areas of expertise across biomedical ethics 03:20 Ethical considerations around reproductive medicine and polygenic risk scores 10:37 Regulatory uncertainty and limited oversight in reproductive genetics 13:18 Liability, regulation, and real-world implementation challenges for AI in healthcare 14:52 Risk–benefit framework for evaluating AI use in clinical settings 17:19 Glenn’s experience contributing to landmark Supreme Court cases in biotechnology and health law 20:09 Glenn’s perspective on mitochondrial replacement and its regulatory divide between the UK and US 22:20 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!
This week on The Genetics Podcast, Patrick is joined by Dr. Andrea Ganna, Associate Professor at the Institute for Molecular Medicine Finland (FIMM). They discuss the promise and limits of polygenic risk scores for disease prediction and clinical trials, how large-scale electronic health records and AI models could transform medical research and healthcare planning, what Finland’s national health data infrastructure enables for population-scale studies, and how genetics can be used to strengthen trial emulation in observational data. Show Notes: 0:00 Intro to The Genetics Podcast 00:59 Welcome to Andrea 01:51 Andrea’s research focuses, including polygenic scores in biobanks and AI applications 03:02 Complementarity between polygenic scores and electronic health record–derived risk signals across biobanks 04:47 Using polygenic risk scores for prognostic versus predictive enrichment in clinical trials 10:28 Limitations and opportunities of using AI models on large-scale electronic health records 15:47 Legal, data infrastructure, and privacy barriers to building AI models on health records 18:04 Choosing model architectures for healthcare AI 19:47 Using AI and multi-omics data to integrate biological knowledge and the challenge of learning causality 21:43 How removing genetic effects from proteins improves disease prediction and highlights the role of environment 24:42 Finland’s health data ecosystem and national biobanks 28:11 Using genetics to improve trial emulation in biobank data and observational studies 33:42 Closing remarks Find out more: Trial emulation study Polygenic scores study Please consider rating and reviewing us on your chosen podcast listening platform!
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Observed July 30, 2026.
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