The Genetics Podcast
The Genetics Podcast
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.
The Genetics Podcast is Google's highest-ranked genetics podcast and has 880,000+ downloads across 40 countries.
latest episodes ↓
23 Apr
44 min 40 secEP 236: Fixing access and design in rare disease drug development: Insights from experts and patient advocates
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.
16 Apr
39 min 59 secEP 235: Inside Alzheimer’s disease: Blood biomarkers and predicting symptoms with Suzanne Schindler of Washington University
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
09 Apr
42 min 51 secEP 234: Inside rare disease trial operations: The role of CROs in an evolving landscape with Derek Ansel of Worldwide Clinical Trials
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
02 Apr
33 min 23 secEP 233: Unlocking early detection in liver disease with data and genetics with Tim Jobson of Predictive Health Intelligence
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
26 Mar
23 min 42 secEP 232: How ethics and law shape reproductive technology and AI in medicine with Glenn Cohen of Harvard Law School
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.
19 Mar
36 min 19 secEP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of the Institute for Molecular Medicine Finland
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.
12 Mar
39 min 40 secEP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska Institute
This week on The Genetics Podcast, Patrick is joined by Dr. Anna Lindstrand, Professor and Consultant in Clinical Genetics and Genomics at the Karolinska Institute. They discuss how Sweden has scaled whole genome sequencing as a first-line test for rare disease, what long-read sequencing adds to clinical diagnostics, how national genomic infrastructure can accelerate translation into precision medicine, and where prevention and adult genomic screening may fit into the future of healthcare.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Anna
01:34 Choosing between whole genome, exome, panels, and long-read sequencing in clinical practice
04:05 Evaluating long-read sequencing in the clinic
06:37
05 Mar
40 min 03 secEP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein of jscreen
This week on The Genetics Podcast, Patrick is joined by Dr. Matthew Goldstein, CEO of jscreen. They discuss his journey from physician-scientist and biotech founder to leading a national nonprofit focused on preventive genetic screening, how a personal tragedy reshaped his mission around carrier screening and access, and what it will take to close the gap between the promise of genomics and its real-world implementation in healthcare.
26 Feb
45 min 48 secEP 228: What genomes reveal about Epstein–Barr virus and human disease with Ryan Dhindsa and Caleb Lareau
This week on The Genetics Podcast, Patrick is joined by Dr. Ryan Dhindsa, Assistant Professor at the Baylor College of Medicine and PI at Texas Children’s Hospital, and Dr. Caleb Lareau, PI at Memorial Sloan Kettering Cancer Center and Assistant Professor of Computational Biology and Medicine at Weill Cornell Medicine. They discuss how a Twitter DM sparked a multi-year collaboration to extract Epstein–Barr virus signals from large-scale human genomic datasets, how measuring viral persistence in UK Biobank data reveals insights into autoimmune disease risk and host genetic control, and what this work means for understanding the long-term impact of chronic
19 Feb
43 min 26 secEP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin of the University of Oxford
This week on The Genetics Podcast, Patrick is joined by Dr. Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at the Big Data Institute, University of Oxford. They discuss the discovery of a new neurodevelopmental syndrome caused by mutations in the small nuclear RNA gene RNU4-2, what this reveals about the non-coding genome and the spliceosome, and how large-scale genome sequencing is reshaping diagnosis, variant interpretation, and the future of genetic medicine.
12 Feb
38 min 33 secEP 226: Scaling AAV gene therapy: Engineering delivery, safety, and cost with David Dismuke of Forge Biologics and Steven Gray of UT Southwestern
This week on The Genetics Podcast, Patrick is joined by Dr. David Dismuke, Chief Technical Officer at Forge Biologics, and Dr. Steven Gray, Professor at UT Southwestern Medical Center. They discuss the evolution of AAV gene therapy from academic labs to industrial-scale manufacturing, how vector design and capsid engineering are improving CNS delivery, and what manufacturing innovation and next-generation delivery technologies mean for safety, cost, and the future of gene therapy.
05 Feb
36 min 46 secEP 225: Lessons from 20 years of building ocular gene therapies with Daniel Chung of Beacon Therapeutics
This week on The Genetics Podcast, Patrick is joined by Daniel Chung, Chief Medical Officer of Beacon Therapeutics. They discuss lessons from developing the first ocular gene therapy (Luxturna), the complexities of designing and executing pivotal trials in inherited retinal disease, and how endpoint selection, delivery, and immunogenicity shape clinical and commercial success.
29 Jan
44 min 22 secEP 224: Genomic newborn screening in Australia: From pilot studies to population-scale programs with Zornitza Stark of the University of Melbourne
This week on The Genetics Podcast, Patrick is joined by Zornitza Stark, Professor at the University of Melbourne and Co-Group Leader at the Murdoch Children’s Research Institute. Using early findings from the BabyScreen+ genomic newborn screening study, they examine feasibility, clinical impact, and family-wide implications beyond standard screening, and consider what these insights mean for infrastructure, policy, and equitable implementation at scale.
22 Jan
49 min 16 secEP 223: Live at JPM: Rewriting disease with next-generation genetic medicines with Michelle Werner of Alltrna and Mike Severino of Tessera Therapeutics
This week on The Genetics Podcast, Patrick is joined for a special recording at the Flagship Pioneering studio during JPM 2026 by Michelle Werner, CEO of Alltrna, and Mike Severino, CEO of Tessera Therapeutics. They discuss the molecular mechanisms behind Alltrna’s engineered tRNA and Tessera’s gene-writing platforms, why 2026 marks a major inflection point as both programs enter the clinic, and considerations around trial design, patient needs, and delivering therapies at scale.
15 Jan
46 min 59 secEP 222: From genetic risk to gene editing in heart failure with Travis Hinson of the Jackson Laboratory and University of Connecticut
This week on The Genetics Podcast, Patrick is joined by Dr. Travis Hinson, Professor and physician at the University of Connecticut and investigator at the Jackson Laboratory. They discuss how genetics is reshaping the understanding of heart failure, why sarcomere biology has become a central target for new gene-based therapies, and how advances in genome editing and preventive genetics could redefine cardiovascular care.
08 Jan
50 min 35 secEP 221: How to build a woolly mammoth: Ancient DNA and de-extinction with Beth Shapiro of Colossal Biosciences
This week on The Genetics Podcast, Patrick is joined by Dr. Beth Shapiro, Chief Science Officer at Colossal Biosciences. They discuss her path into ancient DNA and evolutionary genetics, how advances in genome engineering are reshaping de-extinction and conservation science, and why restoring lost ecological functions could transform the future of biodiversity.
30 Dec
43 min 22 secEP 220: Turning human brain physiology into RNA medicines with Graham Dempsey of Quiver Bioscience
This week on The Genetics Podcast, Patrick is joined by Dr. Graham Dempsey, CEO and co-founder of Quiver Bioscience. They discuss Graham’s path into neuroscience and biotech, how Quiver is building genetically validated programs in pain and neurodevelopmental disorders, and what recent advances in RNA-based therapies could mean for the future of neurological disease.
23 Dec
37 min 53 secEP 219: A global effort to decode frontotemporal dementia with Arabella Bouzigues of GENFI
This week on The Genetics Podcast, Patrick is joined by Dr. Arabella Bouzigues, Coordinator of the Genetic Frontotemporal Dementia Initiative (GENFI) and postdoctoral researcher. They discuss the scale and structure of GENFI as a global collaboration and what longitudinal data is revealing about genetics and biomarkers in frontotemporal dementia.
18 Dec
48 min 42 secEP 218: Cardiovascular genomics and the future of preventing heart failure with Krishna Aragam of the Cleveland Clinic
This week on The Genetics Podcast, Patrick is joined by Dr. Krishna Aragam, Section Head of Cardiovascular Genomics and Precision Medicine at the Cleveland Clinic. They discuss Krishna’s early experiences in population research and how they shaped his approach to genetics, the major discoveries transforming cardiovascular genomics from monogenic to polygenic risk, and how new insights into heart failure and population-specific variants are redefining the future of clinical care.
11 Dec
33 min 51 secEP 217: Building a genomic passport for every family: Insights from tech leader and rare disease parent Lisa Gurry of GeneDx
Summary:
This week on The Genetics Podcast, Patrick is joined by Lisa Gurry, Chief Business Officer of GeneDx. They discuss her path from two decades at Microsoft to leading one of the most influential genomics companies, GeneDx’s mission to deliver the fastest rare disease diagnoses, and how large-scale data, newborn screening, and AI are shaping the future of precision medicine.
04 Dec
47 min 03 secEP 216: Four decades of advancing Duchenne research with Jeffrey Chamberlain of University of Washington
This week on The Genetics Podcast, Patrick is joined by Dr. Jeffrey Chamberlain, Professor at the University of Washington School of Medicine, co-founder of Kinea Bio, and Director of the Muscular Dystrophy Cooperative Research Center of Seattle. They discuss the early breakthroughs that revealed the structure and function of the dystrophin gene, how those insights led to the creation of micro-dystrophin and systemic AAV delivery in Duchenne, and the major scientific and clinical challenges the field must now solve.
27 Nov
43 min 33 secEP 215: Vectorized RNAi and the next frontier of gene silencing with Rachel Salzman of Armatus Bio
Summary:
This week on The Genetics Podcast, Patrick is joined by Dr. Rachel Salzman, CEO of Armatus Bio. They discuss the promise of vectorized RNAi for autosomal dominant diseases, the key scientific and clinical hurdles in gene therapy, and Rachel’s lessons from two decades in the field.
20 Nov
51 min 19 secEP 214: Innovating large-scale and sustainable genomics with Slavé Petrovski of AstraZeneca
Summary:
This week on The Genetics Podcast, Patrick is joined by Slavé Petrovski, Vice President of the Center for Genomics Research at AstraZeneca. They discuss how AstraZeneca is scaling population genomics through massive biobank collaborations, developing AI models for early disease prediction, and pioneering sustainable “green” algorithms to reduce the environmental footprint of large-scale genomic research.
13 Nov
35 min 29 secEP 213: Inside the science of hearing loss and gene therapy for deafness with Ellen Reisinger of the University of Tübingen
This week on The Genetics Podcast, Patrick is joined by Dr. Ellen Reisinger, Professor and group leader at the University of Tübingen. They discuss her journey into hearing loss research, why otoferlin has become a leading target for gene therapy, and the emerging science shaping the next generation of treatments.
06 Nov
46 min 05 secEP 212: A hub-and-spoke model for accelerating rare disease drug development with Ananth Sridhar and Sun-Gou Ji of BridgeBio
Summary:
This week on The Genetics Podcast, Patrick is joined by BridgeBio’s Ananth Sridhar, Chief Operating Officer of Cardiorenal Programs, and Sun-Gou Ji, Vice President of Computational Genomics. They discuss the hub-and-spoke model for de-risking and accelerating rare disease drug development, the role of human genetics in target discovery, lessons from their autosomal dominant hypocalcemia type 1 (ADH1) program, and how portfolio design and predictive genomics are shaping the future of precision medicine.
30 Oct
30 min 24 secEP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now
Summary:
This week on The Genetics Podcast, Patrick is joined by Justin Porcano, co-founder and Executive Director of Save Sight Now. They discuss how his daughter’s diagnosis with Usher syndrome type 1B (USH1B) inspired the founding of Save Sight Now, the organization’s efforts to accelerate research and overcome barriers in gene therapy, and the innovative gene delivery methods and therapeutic approaches currently in development.
23 Oct
52 min 54 secEP 210: Live from ASHG: Breaking barriers in genomics with Heidi Rehm of the Broad Institute and Slavé Petrovski of AstraZeneca
Summary:
This week on The Genetics Podcast, recorded live at ASHG 2025, Patrick is joined by Heidi Rehm, Chief Genomics Officer at MGH’s Center for Genomic Medicine and Co-director at the Broad Institute, and Slavé Petrovski, Vice President of AstraZeneca's Centre for Genomics Research. They discuss the rapid progress of large-scale genomics, the barriers to integrating genetic data into healthcare and drug development, and how open collaboration, global data sharing, and a focus on equity are driving more inclusive and impactful genomic discovery.
16 Oct
39 min 20 secEP 209: Reinventing Fabry disease treatment with Chris Hopkins of Glafabra Therapeutics
This week on The Genetics Podcast, Patrick is joined by Chris Hopkins, CEO of Glafabra Therapeutics. They discuss how Glafabra is advancing a next-generation cell therapy for Fabry disease, the differences between gene therapy modalities, and the future of cell and gene therapy innovation.
09 Oct
42 min 58 secEP 208: Gene therapy at a crossroads: Successes, concerns, and the path forward
Summary:
This week on The Genetics Podcast, Patrick Short takes a solo deep dive into the current state of gene therapy ahead of next week’s live recording at ASHG. He explores the promise and limitations of adeno-associated virus (AAV) delivery, examples of gene therapies for neuromuscular diseases, and the challenges of balancing safety, cost, and commercial viability in rare diseases.
02 Oct
43 min 51 secEP 207: Decoding Parkinson’s genetics on a global scale with Andy Singleton and Sonya Dumanis of GP2 and ASAP
Summary:
This week on The Genetics Podcast, Patrick is joined by Andy Singleton, Program Lead of the Global Parkinson’s Genetics Program (GP2), and Sonya Dumanis, COO of the Coalition for Aligning Science. They discuss the creation of GP2, how the initiative is closing representation gaps in genetics, and building global infrastructure and capacity for research.
25 Sep
38 min 34 secEP 206: From caregiving to catalyzing FTD research with Wanda Smith of CureGRN
This week on The Genetics Podcast, Patrick is joined by Wanda Smith, founder of CureGRN. They discuss Wanda’s journey from caring for her mother to driving FTD research, the discovery of progranulin and development of new therapies, the diagnostic odyssey and need for earlier genetic testing, and how the CureGRN community is expanding support and awareness worldwide.
18 Sep
43 min 46 secEP 205: From father to biotech founder: Building hope for children with ultra-rare diseases with Terry Pirovolakis of Elpida Therapeutics
This week on The Genetics Podcast, Patrick is joined by Terry Pirovolakis, CEO and Founder of Elpida Therapeutics. They discuss Terry’s journey to create a life-saving gene therapy for his son, the founding of Elpida Therapeutics to bring hope to families with ultra-rare diseases, and the challenges of scaling therapies that aren’t commercially viable.
11 Sep
36 min 52 secEP 204: Bringing cardiovascular genetics and biobank discoveries into the clinic with Samuli Ripatti of the University of Helsinki
This week on The Genetics Podcast, Patrick is joined by Samuli Ripatti, Director of the Institute for Molecular Medicine Finland (FIMM), Vice Director at HiLIFE, and Professor of Biometry at the University of Helsinki. They discuss Samuli’s research on lipid and cardiovascular genetics, how polygenic risk scores are moving into clinical care, and the power of the FinnGen biobank.
04 Sep
38 min 20 secEP 203: Building the tools behind modern genomics with Jonathan Marchini of Regeneron
This week on The Genetics Podcast, Patrick is joined by Jonathan Marchini, Head of Statistical Genetics and Machine Learning at the Regeneron Genetics Center. They discuss Jonathan’s pioneering role in developing computational methods from the HapMap era through to today, how those innovations underpin large-scale imputation and analysis, and why exomes with imputation remain more powerful than whole genomes for discovery at Regeneron.
28 Aug
45 min 46 secEP 202: Biotech at the intersection of science and politics with Max Bronstein of Aviva Strategies
This week on The Genetics Podcast, Patrick is joined by Max Bronstein, CEO of Aviva Strategies. They discuss the shifting regulatory and political landscape shaping biotech, the realities of today’s drug development process, and why new incentives and flexible trial pathways are critical to advancing rare and ultra-rare disease therapies.
21 Aug
47 min 28 secEP 201: The gene therapy playbook: Successes, setbacks, and the path forward with Richard Wilson of Astellas
This week on The Genetics Podcast, Patrick is joined by Richard Wilson, Senior Vice President, Primary Focus Lead of Genetic Regulation at Astellas. They discuss where the gene therapy field stands today, diving into successes, persistent barriers, regulatory considerations, manufacturing strategies, and other reflections on important approaches to precision medicine drug development.
14 Aug
34 min 40 secEP 200: From predictions to breakthroughs in genetics and biotech
This week on The Genetics Podcast, we celebrate our 200th episode with a look back at some of the earliest episodes, particularly ones that foresaw major trends or went on to spark real-world impact. These include Eric Topol’s early predictions about AI in healthcare, Laurence Reid’s vision for gene therapy in hearing loss, Sir Rory Collins on the potential impact of the UK Biobank, Daphne Koller on uniting biology and machine learning, and Vineeta Agarwala on harnessing large datasets for drug discovery. Patrick adds updates and reflections on how these bold ideas have shaped the genomics and biotech landscape.
07 Aug
36 min 31 secEP 199: Functional genomics at scale: Using in vivo perturbations to study genetic risk variants in the brain with Xin Jin of Scripps Research Institute
This week on The Genetics Podcast, Patrick is joined by Xin Jin, Associate Professor in the Department of Neuroscience at The Scripps Research Institute. They discuss how in vivo Perturb-seq enables scalable and high-resolution modeling of neurogenetic disorders like autism, how introducing mutations directly into living mouse brains reveals cell-type vulnerabilities and convergent pathways, and why this approach could transform therapeutic development by identifying shared mechanisms across diverse genetic mutations.
31 Jul
43 min 52 secEP 198: Reimagining clotting disorders: Patient voices and “unreasonable” leadership with Benny Sorenson of Hemab Therapeutics
This week on The Genetics Podcast, Patrick is joined by Benny Sorensen, CEO of Hemab Therapeutics. They discuss how Hemab is reimagining clotting therapies by centering patient voices, how persistence and being “unreasonable” led to their first program, and the value of their multi-modality and collaborative approach.
24 Jul
39 min 41 secEP 197: From biobanks to breakthroughs: Linking genomics to drug discovery with Heiko Runz of insitro
Summary:
This week on The Genetics Podcast, Patrick is joined by Heiko Runz, medical geneticist and VP of Neuroscience at insitro. They discuss Heiko’s path into therapeutic genetics, how collaboration and data integration across biobanks led to his discovery of a protective variant for age-related macular degeneration, and the role of cell-based models in drug discovery.
17 Jul
47 min 02 secEP 196: A new vision for sequencing: In-sample multiomics and precision medicine with Molly He
This week on The Genetics Podcast, Patrick is joined by Molly He, CEO and co-founder of Element Biosciences. They discuss the current landscape of sequencing technologies, Element’s innovative sequencing platform, and the potential of using in-sample multiomic profiling across different stages of drug discovery.
10 Jul
41 min 32 secEP 195: From junk to therapy: The untapped power of regulatory RNAs with David Bumcrot of CAMP4 Therapeutics
Summary:
This week on The Genetics Podcast, Patrick is joined by David Bumcrot, Chief Scientific Officer of CAMP4 Therapeutics. They discuss David’s involvement in the development of the breakthrough technologies in RNA interference and CRISPR, how CAMP4 is pioneering the use of regulatory RNAs to treat haploinsufficient diseases, and the complexities of gene regulation.
03 Jul
42 min 51 secEP 194: Ontologies, diagnostics, and genomics for all with Melissa Haendel of UNC Chapel Hill
Summary:
This week on The Genetics Podcast, Patrick is joined by Melissa Haendel, Director of Translational Informatics and Precision Health and Professor at the University of North Carolina at Chapel Hill, and Phenotypic Lead at Alamya Health. They discuss the limitations of electronic health records for rare disease diagnostics, how patient self-reporting can enhance diagnosis, expanding access to genomic testing in underserved settings, and the challenges and promise of national-scale health data infrastructure.
26 Jun
38 min 42 secEP 193: Targeting autophagy to treat neurodegeneration with Frank Gentile of Casma Therapeutics
Summary:
This week on The Genetics Podcast, Patrick is joined by Frank Gentile, Chief Executive Officer of Casma Therapeutics. They discuss the role of autophagy in neurodegenerative diseases, Casma’s work on therapies for Gaucher’s disease and Parkinson’s disease, and the challenges and opportunities in rare disease biotech.
19 Jun
34 min 59 secEP 192: From $88 to breakthroughs: Innovation in retinal gene therapy with Dr. Huma Qamar of Ocugen
Summary:
This week on The Genetics Podcast, Patrick is joined by Huma Qamar, Chief Medical Officer at Ocugen. They discuss her journey from arriving in the US with $88 in her pocket to leading gene therapy programs, Ocugen’s breakthrough in retinal disease, and how gene-agnostic therapies could transform treatment for conditions like retinitis pigmentosa.
12 Jun
41 min 52 secEP 191: Uncovering hidden histories and health insights from the Mexican Biobank with Andres Moreno-Estrada of LANGEBIO
This week on The Genetics Podcast, Patrick is joined by Andres Moreno-Estrada, population geneticist and head of the Human Evolutionary Genomics Lab at LANGEBIO in Mexico. They discuss the creation and insights of the Mexican Biobank, the genetic diversity of Latin America, ancient human migration, and the role of locally-led research in shaping public health and scientific equity.
05 Jun
48 min 50 secEP 190: Targeting regeneration to tackle Duchenne Muscular Dystrophy with Frank Gleeson of Satellos
Summary:
This week on The Genetics Podcast, Patrick is joined by Frank Gleeson, co-founder and CEO of Satellos. They discuss Satellos’ novel approach to treating Duchenne Muscular Dystrophy by targeting muscle stem cell regeneration, how this fills a critical therapeutic gap, and the promising results of their early clinical trials. They also touch on what it takes to advance drug development and secure funding in today’s biotech landscape.
29 May
47 min 56 secEP 189: From genetic heritability in twins to gut health with Tim Spector of King’s College London and Zoe
Summary:
This week on The Genetics Podcast, Patrick is joined by Tim Spector, Professor of Genetic Epidemiology at King’s College London and co-founder of Zoe. They discuss surprising insights on heritability from decades of twin research, the profound impact of the microbiome on health and disease, and the effect of diet on the gut microbiome.
22 May
59 min 54 secEP 188: Cracking the code of autism through genetics with Daniel Geschwind of UCLA
Summary:
This week on The Genetics Podcast, Patrick is joined by Daniel Geschwind, Professor, Senior Associate Dean, and Associate Vice Chancellor of Precision Health at UCLA. They discuss the circuitous career path that led Daniel to building a biobank that provided the foundation for autism genetics, the complexity of the molecular and genetic aspects of autism, and how gene therapies could advance treatment.
15 May
38 min 38 secEP 187: Rethinking germline gene editing and revolutionizing women’s fertility with Helen O’Neill
Summary:
This week on The Genetics Podcast, Patrick is joined by Helen O’Neill, molecular geneticist, founder of Hertility Health, and associate professor at University College London (UCL). They discuss how Helen’s experience as an identical twin sparked her interest in genetics, her firsthand account of the CRISPR baby controversy, and why stubborn perceptions and sensational headlines continue to cast a shadow over the gene editing field, despite major scientific progress.
08 May
50 min 15 secEP 186: Unpacking the science and myths around obesity and health with geneticist and author Giles Yeo
This week on The Genetics Podcast, Patrick is joined by Giles Yeo, geneticist and author of Gene Eating: The Science of Obesity and the Truth About Dieting and Why Calories Don't Count: How We Got the Science of Weight Loss Wrong. Giles and Patrick discuss the genetic, neural, and evolutionary drivers of obesity, the advancements in safe and effective obesity drugs, and the narratives around calorie counting and ultra-processed foods.
01 May
40 min 44 secEP 185: From newborn screening to lifelong data in an evolving genomics landscape with Madhuri Hegde of Revvity
This week on The Genetics Podcast, Patrick is joined by Madhuri Hegde, SVP and Chief Scientific Officer of Revvity. They discuss Revvity’s advances in ultra-rapid clinical-grade sequencing, opportunities, challenges, and global inequities in newborn screening, and the dilemma of resequencing versus long-term data storage.
24 Apr
42 min 56 secEP 184: Rethinking speed and scale in clinical genomics with Euan Ashley of Stanford University
This week on The Genetics Podcast, Patrick is joined by Dr. Euan Ashley, Chair of the Department of Medicine at Stanford, founder of various biotech companies, and author of The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them. They discuss Euan’s groundbreaking work on ultra-rapid genome sequencing and how widespread sequencing, wearables, and AI could shape the future of preventive medicine and human performance.
17 Apr
40 min 07 secEP 183: Rewriting the Rules for Ultra-Rare Diseases with Kent Rogers of EveryONE Medicines
This week on The Genetics Podcast, Patrick is joined by Kent Rogers, Chief Executive Officer at EveryONE Medicines. They discuss Kent’s journey across every side of the desk in the drug discovery space, EveryONE Medicines’ efforts to develop antisense oligonucleotides for ultra-rare diseases, and the need to adapt regulatory models for n-of-1 therapies.
10 Apr
48 min 28 secEP 182: Demystifying genetic counseling with Matt Burgess
This week on The Genetics Podcast, Patrick is joined by Matt Burgess, genetic counselor, host of the Demystifying Genetics podcast, and Adjunct Professor at Bay Path University. They discuss the evolution of genetic counseling, ethical challenges in gene therapy, and Matt’s experiences with his podcast.
03 Apr
45 min 30 secEP 181: Transforming frustration into breakthroughs in gene therapy with Salvador Rico of Encoded Therapeutics
This week on The Genetics Podcast, Patrick is joined by Salvador Rico, Chief Medical Officer at Encoded Therapeutics. They discuss Salvador’s journey into drug development, his work on gene therapy for X-linked myotubular myopathy, and fundamental challenges and exciting advances in the genetics field.
27 Mar
41 min 24 secEP 180: From a consulting project to a biotech start-up with Leeland Ekstrom of Nashville Bio
This week on The Genetics Podcast, Patrick is joined by Leeland Ekstrom, CEO and co-founder of Nashville Bio. They discuss how Leeland went from being a consultant on a project for Vanderbilt University to a co-founder of a start-up and the unique aspects of NashBio’s clinical and genetic database.
20 Mar
42 min 08 secEP 179: Redefining rare disease realities with Sharon Terry of the Genetic Alliance
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.
13 Mar
39 min 37 secEP 178: Expanding the human proteome to facilitate drug discovery with John Lepore of ProFound Therapeutics
This week on The Genetics Podcast, Patrick is joined by Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. They discuss ProFound Tx’s mission to expand the proteome to identify novel drug targets – which resulted in the ProFoundry atlas – and the ways in which John’s diverse experiences inform his approach as a leader.
06 Mar
43 min 16 secEP 177: The vision of Our Future Health with Raghib Ali
This week on The Genetics Podcast, Patrick is joined by Raghib Ali, CEO, CMO, and Principal Investigator of Our Future Health UK. As a clinical epidemiologist with a passion for reducing health inequalities, Raghib offers fresh insights into the priorities, challenges, and transformative impact of the groundbreaking genomics initiative, Our Future Health.
27 Feb
38 min 24 secEP 176: Hunting rare kidney disease mutations with Anthony Bleyer of Wake Forest and Stan Kmoch of Charles University
This week on The Genetics Podcast, we’re celebrating Rare Disease Day with a very special episode. Patrick is joined by clinical nephrologist Anthony Bleyer and geneticist Stan Kmoch to discuss how their decade-long international collaboration has uncovered genetic mutations in families with rare inherited kidney diseases – including Patrick’s.
20 Feb
44 min 45 secEP 175: Pioneering treatment for stop codon disease using tRNA with Michelle Werner of Alltrna
This week on The Genetics Podcast, Patrick is joined by Michelle Werner, CEO at Alltrna and CEO/Partner at Flagship Pioneering. They discuss Alltrna’s promising findings from its first preclinical study on using tRNA to rescue stop codon disease, the strategic use of basket trials, and more!
13 Feb
46 min 08 secEP 174: Decentralized science and reducing the cost of gene therapies with Jocelynn Pearl of the TAM Center
On this week’s episode of The Genetics Podcast, we’re joined by Jocelynn Pearl, Director of Cancer Cell Therapy at the TAM Center, host of the Lady Scientist Podcast and Co-Founder of LabDAO. Patrick and Jocelynn discuss her move to Mexico to help accelerate the development of new cancer therapies, harnessing the power and potential of decentralized science, and overcoming sky-high gene therapy costs to increase accessibility for patients.
06 Feb
41 min 11 secEP 173: Tackling genetic cardiomyopathy from the bed to the bench with Eric Adler of Lexeo Therapeutics and UCSD
Summary:
This week on The Genetics Podcast, Patrick is joined by Eric Adler, Chief Medical Officer and Head of Research at Lexeo Therapeutics and Professor of Medicine at University of California San Diego. Eric shares his experience with genetic cardiomyopathy and his work on gene therapy for Danon disease, drawing from both clinical and research perspectives. Additionally, he explores the evolution of the field and the broader challenges faced by cardiovascular patients.
30 Jan
48 min 48 secEP 172: Racial health disparities in genetic testing and breast cancer treatment with Dr. Versha Pleasant of University of Michigan
This week on The Genetics Podcast, Patrick is joined by Versha Pleasant, Clinical Assistant Professor in the Department of Obstetrics and Gynecology, University of Michigan and Director of the Cancer Genetics and Breast Health Clinic at Von Voigtlander Women’s Hospital. They discuss ongoing disparities in healthcare, in particular why black women in the US have a 40% higher chance of dying from breast cancer than white women, the impact of the US Educate Act on equality, diversity and inclusion education, and much more.
00:00:00 – Intro to The Genetics Podcast
00:01:52 – Welcome to Versha
00:03:22 – How
23 Jan
35 min 13 secEP 171: The past, present, and future of long-read sequencing with Jonathon Hill of Wasatch Biolabs
This week on The Genetics Podcast, Patrick is joined by Jonathon Hill, associate professor at Brigham Young University and co-founder and VP of Wasatch Biolabs. Jonathan and Patrick discuss the power of long-read sequencing, how Wasatch Biolabs was created, and how Jonathon has fostered valuable collaborations between academic labs and Wasatch Biolabs.
16 Jan
42 min 25 secEP 170: Pan-European collaboration and dementia research with Angela Bradshaw, from Alzheimer Europe
This week on The Genetics Podcast, Patrick is joined by Angela Bradshaw, Director for Research at Alzheimer Europe and honorary lecturer at the University of Glasgow. Patrick and Angela discuss how Alzheimer Europe partners in and support pan-European dementia research, the enormous heterogeneity of dementia and Alzheimer’s disease, the future of potential new gene therapies, and the critical role of advocacy organizations for patient communities.
09 Jan
45 min 39 secEP 169: Common variants in rare neurological diseases with Hilary Martin of the Wellcome Sanger Institute
This week on The Genetics Podcast, we’re joined by Hilary Martin, Group Leader in Human Genetics at the world-renowned Wellcome Sanger Institute. Hilary and Patrick discuss her group’s work on neurodevelopmental conditions, the role of common genetic variants in rare disease, and how to untangle the impact of direct and indirect genetic influences on various traits. Find out more Nature paper: Examining the role of common variants in rare neurodevelopmental conditions https://www.nature.com/articles/s41586-024-08217-y Genes and Health Project https://www.genesandhealth.org
02 Jan
37 min 54 secEP 168: A world-first in RNA medicines with Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences
Happy New Year! In our first episode of 2025, Patrick is joined by Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences. Erik is also the formerr Senior Vice President of Target Discovery at GlaxoSmithKline and a former Professor at Stanford and Uppsala universities. Patrick and Erik discuss Wave’s world-first discovery in RNA editing therapies for Alpha-1 Antitrypsin Deficiency (AATD), Erik’s far-reaching career across academia, big pharma and biotech, and how to be a present parent in the thick of a thriving career.
26 Dec
75 min 45 secEP 167: Research Roundup with Dr. Veera: Wrapping up 2024 in four pioneering papers
Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener, you may be familiar with Veera’s quarterly appearances on the show, where Patrick and he discuss the latest developments in genetics, drug discovery, and precision medicine. Grab yourself a cup of something warm and tune in as Veera and Patrick close out 2024 with a wrap up covering: Population genomics programs New Alzheimer’s research The impact of genetics on menopause onset Newborn genetic screening Tune in now,
19 Dec
42 min 55 secEP 166: Developing targeted therapies for ALS with Eric Green from Trace Neuroscience, Maze Therapeutics, and Stanford University
This week we’re joined by 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. Eric and Patrick discuss Eric’s transition from cardiology to the world of 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).
12 Dec
53 min 04 secEP 165: Harnessing CRISPR and RNA editing to transform healthcare with Dr. Ness Bermingham
In this episode, we’re joined by Dr. Ness Bermingham, Operating Partner at Khosla Ventures and Chair of the Board at Korro Bio. A scientist-turned-biotech entrepreneur, Ness is passionate about the power of science to tackle some of healthcare’s biggest challenges. Ness co-founded Intellia Therapeutics, a leader in CRISPR gene editing, and Korro Bio, an innovator in RNA editing, driving breakthroughs that translate cutting-edge science into real healthcare solutions. With over 20 years of experience in biotech and healthcare, he’s played a vital role in shaping startups into companies that develop life-changing medicines. Tune in as we dive into Ness’s journey
05 Dec
47 min 12 secEP 164: Groundbreaking advances in MMR-deficient rectal cancer, liquid biopsies, and precision oncology with Dr. Luis Diaz
Welcome back to The Genetics Podcast! Today, we’re joined by Dr. Luis Diaz, Head of the Division of Solid Tumor Oncology at Memorial Sloan Kettering and a White House Appointee to the National Cancer Advisory Board. Dr. Diaz’s career has been defined by his commitment to translating cutting-edge cancer genomics into clinical practice. In this episode, he and Patrick dive into his groundbreaking trial on mismatch repair (MMR)-deficient rectal cancer, along with his pioneering work on liquid biopsies, immunotherapies targeting tumors with microsatellite instability, and advancements in precision oncology. To learn more about Dr. Diaz and his work, visit his
27 Nov
44 min 20 secEP 163: The intersection of loss and genetic insight with Susan Liebman of University of Nevada
On this week’s episode, we’re joined by Susan Liebman, Research Professor at University of Nevada, Reno School of Medicine and author of a new family memoir rooted in genetics called The Dressmaker’s Mirror. Susan reflects on the deeply personal loss of her niece to an undiagnosed genetic condition, offers her insights on genetic screening for at-risk individuals and populations, and provides valuable advice for early career scientists.
21 Nov
40 min 33 secEP 162: The genetics of isolated communities with Professor Jim Wilson of the University of Edinburgh
Summary: This week, Patrick is joined by Jim Wilson, Professor of Human Genetics at the University of Edinburgh. Jim discusses the genetics of isolated populations and the Vikings Genes project, which has led him to work with communities from more than 25 Scottish islands, and how new sequencing programs can dramatically improve health outcomes for these groups. He also touches on mapping Prince William’s mitochondrial DNA, lobbying Westminster to raise awareness of genetic screening, and his Irish Film & Television Awards (IFTA) winning work with the Irish Traveller community.
14 Nov
50 min 35 secEP 161: How large language models can help build immunotherapies with Michelle Teng of Etcembly Ltd.
In this week’s episode, Patrick is joined by Michelle Teng, CEO and Co-Founder of Etcembly Ltd and Founding Executive Director and Chief Scientific Officer of SynaptixBio. Michelle explains how her team is training large language models (LLMs) to analyze immune system data and how the company’s Long Term Survivor Study is helping identify T-cell profiles associated with sustained cancer remission. She also speaks to her own experience of ultra-rare genetic disease.
07 Nov
52 min 25 secEP 160: Artificial Intelligence, GWAS in Drug Discovery, and Career Insights with Dr. Eric Fauman, Executive Director and Head of Computational Biology in the Internal Medicine Research Unit at Pfizer
In this episode, we welcome Dr. Eric Fauman, Executive Director and Head of Computational Biology in the Internal Medicine Research Unit at Pfizer. Eric and Patrick discuss facilitating efficient identification of potential drug targets and the role of artificial intelligence in genetics research and drug discovery. Please note that Eric has kindly shared some interesting research that was mentioned in the podcast. It is pasted at the end of the show notes.
31 Oct
44 min 17 secEP 159: Engineering macrophages to tackle rare disease with Noam Baumatz of Noga Therapeutics
In this episode, we’re joined by Noam Baumatz, CEO and Co-Founder of Noga Therapeutics, a company dedicated to developing gene therapies for rare and severe diseases through engineering macrophages. Motivated by his highly personal experience of rare disease, Noam founded Noga to develop the type of gene therapies his daughter was unable to access. He and Patrick discuss his work with parents and families affected by rare disease, the road to effective, financially accessible gene therapies, and Noam’s previous work in traditional Chinese medicine.
23 Oct
71 min 31 secEP 158: Research Roundup with Dr Veera: Discoveries in neurogenetics, evolution, cardiac arrhythmias, and more!
Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener of The Genetics Podcast, you may be familiar with Dr. Veera’s annual round-up episodes, and more recently, his quarterly appearances on the show. We’re pleased to bring you the latest quarterly roundup, during which Dr. Veera and Patrick walk through the most recent developments in genetics, drug discovery, and precision medicine. In this episode, Dr. Veera and Patrick dive into a wide variety of topics, including: -
17 Oct
35 min 40 secEP 157: Bridging genomics, business, and equity in healthcare access with Mark Taylor of LGC Group
In this episode, Patrick speaks with Mark Taylor, Head of Strategic Partnerships at LGC Group, about bridging the gap between genomics innovation and equitable healthcare. They discuss Mark's work with the National Institute for Health Research (NIHR), challenges in scaling precision therapies for the NHS, and strategies for engaging underrepresented populations. Additionally, we’re excited to invite you to an in-person meet up for The Genetics Podcast during the ASHG Annual Meeting in Denver, CO! Over the years, we’ve had the honor of speaking with leading voices across science, industry, patient advocacy, and policy. Now, we’re bringing this incredible community together
11 Oct
1 min 32 secEP 156: The Genetics Podcast In-Person Event!
Join us at our first in-person podcast event! We will be hosting a reception during the ASHG Annual Meeting in Denver, CO. The event will be held on the evening of Thursday 7 November. Please submit your information in this form (https://lu.ma/geneticspodASHG) to signify your interest in attending!
10 Oct
32 min 18 secEP 155: Adeno-associated virus as a delivery vector for genetic eye disease treatment, with Paul Wille of Abeona Therapeutics
This week Patrick is joined by Paul Wille, Director of Product Development at Abeona Therapeutics. They discuss the use of adeno-associated virus (AAV) as a vector for gene therapy delivery, outline its limitations and benefits, and hone in its potential in the context of genetic eye disorders. Paul also shares his journey from academia to industry and emphasizes the importance of building on existing technologies to advance the field. Additionally, please consider joining us at our first in-person podcast event! We will be hosting a reception during the ASHG Annual Meeting in Denver, CO. The event will be held on
03 Oct
41 min 03 secEP 154: Pioneering early disease detection through wearable devices and regular monitoring with Dr. Mike Snyder
In this episode, Dr. Mike Snyder, Director of the Center for Genomics and Personalized Medicine at Stanford School of Medicine, shares his pioneering work on health monitoring using multiomics and wearables. The conversation spans personalized aging, the challenges of implementing precision medicine in mainstream healthcare, and Dr. Snyder's vision for a future where proactive health monitoring predicts illness before symptoms appear, keeping people healthier longer. Tune in for a fascinating episode centered on preventative medicine!
26 Sep
40 min 25 secEP 153: How genomics is re-writing the taxonomy of disease with Lon Cardon, President and CEO of The Jackson Laboratory
This week, Patrick welcomes President and CEO of The Jackson Laboratory, Lon Cardon. They discuss the rise of genome-wide association studies (GWAS) and how they changed the face of genetics research and why Lon took the plunge and moved from academia to industry in an era when it was an unpopular choice. Plus, they cover the future of disease taxonomy and why data sharing remains vital to the field of genetics.
19 Sep
42 min 40 secEP 152: Unlocking the secrets of gene regulation with Nadav Ahituv, Director of the Institute of Human Genetics at UCSF
This week, we’re thrilled to welcome Nadav Ahituv, the Director of the Institute of Human Genetics at the University of California, San Francisco. Patrick and Nadav discuss his research on gene regulation, including his intriguing work on bats and their unique metabolic adaptations – and what that means for human health. They also discuss the evolution of our understanding of genetics, from ancient DNA insights to the mechanisms driving human traits, and how these discoveries could pave the way for future therapies.
12 Sep
42 min 36 secEP 151: Understanding cell ageing and its role in disease with Marco Quarta Co-founder and CEO of Rubedo Life Sciences
In this episode Patrick is joined by Marco Quarta, Co-founder and CEO of Rubedo Life Sciences, and previously Director of Bioengineering in Stem Cells and Regenerative Medicine at Stanford University. Since childhood Marco had the dream of ‘curing’ ageing and his work at Rubedo focuses on understanding cell senescence, with the goal of developing novel therapies for age-linked diseases. Join Marco and Patrick as they discuss his transition from academia to founding multiple companies, why not all senescent cells are equal, and how understanding the processes behind cell ageing could help extend human healthspan.
05 Sep
44 min 21 secEP 150: Cracking the biological code of aging with Martin Borch Jensen, Co-Founder and Chief Scientific Officer at Gordian Biotechnology
In this episode, we’re joined by Martin Borch Jensen, Co-Founder and Chief Scientific Officer at Gordian Biotechnology and President of Norn Group, a non-profit dedicated to accelerating research and development of therapies targeting the biology of ageing. Patrick and Martin discuss the phenomenon known as the “ageing problem,” how understanding biological age could crack the code on age-related diseases, and the challenges of building a company in a field with no business model blueprint.
29 Aug
34 min 16 secEP 149: Sequencing 33 million samples to support the UK’s COVID-19 response with Tony Cox, CEO of UK Biocentre
In this episode, we’re joined by Tony Cox, CEO of UK Biocentre. After spending more than 20 years at The Wellcome Sanger Institute, where he worked on the Human Genome Project, Tony moved to UK Biocentre in January 2020 – just before the world was turned upside down by the COVID-19 pandemic. The organization pivoted to play a key role in the UK’s response effort, and under Tony’s leadership the center sequenced 33 million DNA samples in just two years. Patrick and Tony discussed receiving a phone call from the UK government, scaling from sequencing 1,000 to 100,000 samples per
22 Aug
35 min 13 secEP 148: Advancing veteran health through the Million Veteran Program with Dr. Mike Gaziano, professor of medicine at Harvard Medical School
This week, we welcome Dr. Mike Gaziano, professor of medicine at Harvard Medical School and the Director of the Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). Mike is also one of two Principal Investigators of the Million Veteran Program - a national research project in the US looking at how genes, lifestyle, military experiences, and exposures affect health and wellness in veterans. This is a huge undertaking, as Mike describes this project as “the largest health system-based mega-biobank in the world". Join Patrick and Dr. Mike for a discussion on the Million Veteran Program’s research, its integration of extensive
15 Aug
37 min 19 secEP 147: From research to delivering precision medicine in the clinic with Scott Weiss, Professor of Medicine at Harvard University
This week, we’re joined by Scott Weiss, the Professor of Medicine at Harvard University, Associate Director of the Channing Division of Network Medicine at the Brigham and Women’s Hospital, and former Scientific Director at Partners HealthCare Personalized Medicine at Mass General Brigham. Patrick and Scott discuss the challenges of integrating large-scale, longitudinal multi-omic profiling into healthcare settings, demonstrating the value of preventative initiatives to health insurance providers, and why, at 78, Scott isn’t planning on retiring from genetics anytime soon.
08 Aug
43 min 05 secEP 146: The biology of aging with Austin Argentieri, Research Fellow at Harvard Medical School, Affiliate Member of the Broad Institute, and Research Fellow at Massachusetts General Hospital
This week Patrick is joined by Austin Argentieri, Research Fellow at Harvard Medical School, Affiliate Member of the Broad Institute of MIT and Harvard, and Research Fellow at Massachusetts General Hospital. Austin’s work focuses on the proteomics of aging and how proteomic signatures are highly predictive for estimating biological age. From the potential of therapeutic applications, to why no “fountain of youth” genes have yet been identified, he and Patrick discuss the heritability of aging and how proteomics can help identify risk of age-related disease.
01 Aug
39 min 12 secEP 145: Navigating rare disease drug development regulations with Daniel O’Connor
In this episode, we’re joined by Daniel O’Connor, Director of Regulatory Policy and Early Access at The Association of the British Pharmaceutical Industry. Daniel previously spent almost 18 years at the Medicines and Healthcare products Regulatory Agency (MHRA) and over his career has specialized in improving and incentivizing pathways to rare disease treatment development. Join Patrick and Daniel as they discuss orphan drug designation, the importance of international collaboration, and how unlocking new regulatory approaches to preventative medicine can help change the future of rare and ultra-rare conditions.
25 Jul
56 min 48 secEP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's
Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener of The Genetics Podcast, you are likely familiar with Dr. Veera’s annual round-up episodes. This year, we are excited to announce quarterly episodes with Dr. Veera, where he and Patrick walk you through the latest developments in genetics, drug discovery, and precision medicine throughout the year. This quarter’s episode will dive into the discovery of a recurrent de novo mutation in a noncoding region linked to neurodevelopmental
18 Jul
36 min 17 secEP 143: Harnessing human data in drug development with Jakob Steinfeldt, Co-Founder and Chief Scientific Officer at Pheiron
This week, we’re joined by Jakob Steinfeldt, Co-Founder and Chief Scientific Officer at Pheiron, and Honorary Research Fellow at University College London. Jakob and his team are working to create the ‘GPS’ for drug development, using causal insights to identify highly-informed drug targets, with the aim of accelerating clinical trials and revolutionising researchers’ ability to classify highly-relevant patients. Join Patrick and Jakob as they discuss the transition from academia to the world of start-ups, exactly why machine learning has so much potential, and how Pheiron is utilising human data to help get high-impact treatments to patients faster.
11 Jul
42 min 45 secEP 142: From genome to bedside: How genetics is transforming modern medical practice with Dr. Andrea Gropman
Welcome to The Genetics Podcast, where Patrick interviews Dr. Andrea Gropman, Professor of Pediatrics and Neurology at George Washington University School of Medicine and Health Sciences and Chief of Neurogenetics at Children’s National Hospital. This conversation explores Dr. Gropman's extensive expertise in genetics and how its integration into clinical settings can optimise patient outcomes. We'll also discuss the importance of interdisciplinary collaboration, regulatory and ethical considerations, and the future of genetic research. Tune in for an interesting discussion on the transformative impact of genetics on contemporary medical practice and practical clinical applications.
04 Jul
43 min 24 secEP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University
This week, we welcome Lori Orlando, Associate Professor of Medicine and Director of the Precision Medicine Program in the Center for Applied Genomics and Precision Medicine at Duke University. Lori discusses her work as a health services researcher, the MeTree family health history platform, and how she and her team are working to develop a sustainable model for bringing genomic medicine into primary care.
27 Jun
52 min 51 secEP 140: The future of Electronic Health Records and data analysis with Ben Goldacre
This week, we’re joined by Ben Goldacre, a renowned doctor, academic, author, and journalist. His books include “Bad Science” and “Bad Pharma,” among others, and he is currently a Professor of Evidence-Based Medicine at University of Oxford. There, he runs the Bennett Institute for Applied Data Science which aims to pioneer the better use of data, evidence and digital tools in healthcare and policy. Patrick and Ben discuss Join Patrick and Ben for an open conversation about Ben’s choice to step back from the public eye and the power of the OpenSAFELY platform to improve security, transparency and analysis of
20 Jun
44 min 42 secEP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering
This week, we welcome Michelle Werner, CEO of Alltrna and CEO/Partner at Flagship Pioneering. Michelle and her team are working at the cutting-edge of tRNA therapies, which they hope will present a scalable treatment method for people in the rare and ultra-rare disease communities. Join Patrick and Michelle for an exciting conversation about this breakthrough technology, from the transferable potential of this new modality across stop codon diseases, to Michelle’s personal passion for delivering workable solutions to the rare disease community.
06 Jun
40 min 22 secEP 138: Personalised medicine using microbiome models with Dr. Almut Heinken
In this episode, we welcome Dr. Almut Heinken, Junior Professor at the INSERM Institute of Nutrition, Genetics, Environment, and Risk Exposure at Université de Lorraine. Her work focuses on multiscale metabolic modelling of host-microbiome interactions and their role in human health. She has contributed to the development of genome-scale reconstructions of human microbes, known as the AGORA resource. Almut has also developed tools to build personalised microbiome models and applied these models to inflammatory bowel disease, Parkinson’s Disease, and colorectal cancer. She is currently working on modelling the interactions between diet, the microbiome, and the epigenome. Tune in to this
30 May
41 min 40 secEP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research
Join us in welcoming Mavis Machirori, Senior Researcher at the Ada Lovelace Institute and co-founder of Genetics Engage (https://www.geneticsengage.org/)! With over 10 years of clinical experience as a midwife, Mavis is dedicated to promoting social justice in healthcare. Her research focuses on the impact of new healthcare technologies on social inequalities. Passionate about equity in data and genomics, she addresses the broader societal impacts of these advancements. Mavis was a guest on our Participant Diversity webinar in 2020, and we are thrilled to have her back on The Genetics Podcast at Sano!
23 May
40 min 57 secEP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson
Join us in welcoming back a familiar voice, Allison Watson, to The Genetics Podcast. We first spoke to Allison on the podcast back in October 2019 about her work in ring chromosome 20 syndrome (also known as r(20) syndrome). Allison is the Co-founder and CEO of Ring 20 Research and Support UK CIO, a patient advocacy organisation focused on awareness and research for ultra rare r(20) syndrome epilepsy. Tune in as she tells us about developments in the advocacy space for r(20) syndrome over the past four years and landmark moments for research into the condition.v
16 May
41 min 16 secEP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm
Welcome to Episode 135 of The Genetics Podcast, where we welcome Dr. Ingrid Holm, an Associate in Medicine at Boston Children’s Hospital and a Professor of Pediatrics at Harvard Medical School. Ingrid is passionate about integrating newborn screening programs to healthcare systems. She was the co-investigator on the original BabySeq study and is now co-leading a new study — BabySeq2: Bringing equity to genomic sequencing in newborns. She also leads pioneering work in a range of other paediatric projects, all of which we discuss in this episode!
09 May
40 min 44 secEP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today
In episode 134, we welcome fellow genetics podcaster Kira Dineen. Kira is most widely known for her award winning podcast, DNA Today, as well as producing a number of other health and science podcasts. Now running for more than 10 years, DNA Today is the winner of the 2020, 2021, and 2022 Best Science and Medicine Podcast Awards. When not podcasting, Kira works as a Prenatal Genetic Counsellor at Maternal Foetal Care in Connecticut where she supports patients with high-risk pregnancies, and is a certified Cytogenetic Technologist. Tune in for a very interesting episode!
02 May
39 min 17 secEP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern
Join us as we welcome Dr. Emma Magavern to The Genetics Podcast! In addition to being a medical doctor with an English Literature degree, Dr. Magovern is a Clinical Research Fellow at the Centre of Clinical Pharmacology and Precision Medicine at Queen Mary, Barts, and the London School of Medicine and Dentistry. Emma also works closely with East London Genes and Health, a program dedicated to increasing engagement in a community that is underrepresented in research. Most recently, she published a paper looking at pharmacogenomics in a British South Asian population. Tune in to this interesting episode!
25 Apr
47 min 41 secEP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church
In this episode, we are excited to welcome George Church, Professor at Harvard Medical School and MIT, and Co-founder of Eugit Therapeutics, Colossal Biosciences, Arrived AI, and eGenesis. He is also the Director of PersonalGenomes.org, the world's only open-access information hub for human genomic, environmental, and trait data, as well as an IARPA BRAIN Project and the NIH Center for Excellence in Genomic Science. If that weren’t enough, George was named one of the 100 most influential people in the world in Time Magazine’s 2017 Time 100 list. In 2022, he was featured among the most influential people in biopharma
18 Apr
44 min 57 secEP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens
In this episode, we welcome Jake Rubens, a seasoned genomic science entrepreneur and co-founder of Quotient Therapeutics. Tune in to hear Jake discuss the potential of somatic genomics (genes that are present in any cell in the body except for germline cells) in therapeutic development. As the founder of several companies, including Tessera and Sana Therapeutics, Jake offers his unique perspective on the advantages of utilising insights from somatic genome sequencing to understand disease mechanisms and discover new drug targets. He also shares valuable lessons from his robust entrepreneurial journey!
11 Apr
51 min 56 secEP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal
Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener of The Genetics Podcast, you are likely familiar with Dr. Veera’s annual round-up episodes. This year, we are excited to announce quarterly episodes with Dr. Veera, where he and Patrick walk you through the latest developments in genetics, drug discovery, and precision medicine throughout the year. This quarter’s episode will focus on non-coding variants and the future of genome-wide association studies (GWAS). Tune in now, and don’t
04 Apr
38 min 44 secEP 129: Patient advocacy for genetic ALS and FTD with Jean Swidler, Executive Director of End the Legacy
In this episode, Patrick welcomes Jean Swidler, the Founder, Executive Director, and Chair of End the Legacy. End the Legacy is a patient-led organization dedicated to articulating and supporting the needs and interests of the genetic ALS and FTD communities. If you are interested in patient advocacy or keen on learning about recent therapeutic developments for those with neurodegenerative conditions, you will want to listen to this episode!
28 Mar
50 min 18 secEP 128: Parkinson’s disease and precision medicine with Drs. James Beck and Ignacio Mata
Join us as we welcome two familiar faces, Dr. James Beck, Chief Scientific Officer at Parkinson's Foundation, and Dr. Ignacio “Nacho” Mata, Professor at the Cleveland Clinic and Coordinator of the Latin America Research consortium on the Genetics of PD (LARGE-PD). This pair first appeared on Episode 69 of The Genetics Podcast in September 2021 to discuss the genetics of Parkinson’s disease (PD) and the future of precision medicine. Nearly 60 episodes later, Drs. Beck and Mata are back to walk us through updates in the field of PD and precision medicine, increasing diversity in genetic studies, and the potential
21 Mar
39 min 10 secEP 127: Insights into precision medicine, fatty liver disease, and minimally invasive diagnostic tools with Dr. Mazen Noureddin
In this episode, Patrick is joined by Dr. Mazen Noureddin, Professor of Medicine and Transplant Hepatologist at Houston Methodist Hospital. Mazen also leads the Houston Research Institute and Houston Liver Institute, and he previously established the Fatty Liver Program at Cedars-Sinai. Known internationally for his expertise in non-invasive testing and biomarkers for metabolic dysfunction-associated steatohepatitis (MASH, previously known as non-alcoholic steatohepatitis or NASH) and cirrhosis, Mazen has been involved in over 40 clinical studies exploring new treatments for MASH. Don’t miss out on this insightful episode!
14 Mar
39 min 41 secEP 126: Patient-led research for ultra-rare disease drug development with Julia Taravella, Executive Director of Rare Trait Hope Fund
In this episode, we welcome Julia Taravella, Executive Director of Rare Trait Hope Fund. She founded the organisation 11 years ago when her two children were diagnosed with aspartylglucosaminuria (AGU), an ultra-rare, autosomal recessive, and fatal neurodevelopmental disease. Tune in to learn about her goals for developing a gene therapy cure for the disease, her experiences as a mother raising two children with a terminal illness, and upcoming research developments for AGU.
07 Mar
45 min 23 secEP 125: The future of UK Clinical Trial Policy: Innovation, integration, and game-changing legislation with Lord James O’Shaughnessy
This week, we’re joined by Lord James O’Shaughnessy, Member of the House of Lords (UK), and Senior Partner at Newmarket Strategy. In May 2023, Lord O’Shaughnessy led and published a government-commissioned review into the UK clinical trials process, producing key recommendations for policy improvements in R&D innovation. He and Patrick discuss his experience as the Minister in charge of leading the National Health Service through Brexit, and the fundamental importance of integrating R&D into the healthcare system.
29 Feb
42 min 00 secEP 124: How ReCode Therapeutics is pioneering tissue specific delivery of gene therapies for Primary Ciliary Dyskinesia with John Matthews
On Rare Disease Day, we’re joined by John Matthews, Chief Medical Officer at ReCode Therapeutics. John and Patrick discuss how ReCode is using lipid nanoparticle technologies to revolutionise delivery of novel mRNA and gene correction therapies to Primary Ciliary Dyskinesia (PCD) and cystic fibrosis patients. Listen in to find out how ReCode and Sano are collaborating to offer eligible patients free genetic testing to better understand the mechanisms behind DNAI1-related PCD, and much more. See here: https://thinkpcd.com/
22 Feb
45 min 34 secEP 123: The ethics of newborn genome screening: Actionable insights and beyond with Holly Peay, Senior Research Scientist at the Research Triangle Institute
This week we’re joined by Holly Peay, Senior Research Scientist in Bioethics and Genetic Counseling at the Research Triangle Institute (RTI), and Director of the pioneering Early Check Study. Holly and Patrick discuss the Early Check programme, which is offering whole genome screening to newborns and has successfully screened 1,100 babies to date. They talk about the ethical challenges raised by comprehensive newborn screening, the intersection of bioethics, genetics, and genomics, and how to approach healthcare decisions against a backdrop of complex phenotypes and multiple risk factors.
15 Feb
35 min 55 secEP 122: Building genome-scale engineered cells for biotechnology with Leslie Mitchell, Co-founder and CEO of Neochromosome
This week, we deep-dive into the world of genome engineering and yeast organisms with Leslie Mitchell. She’s the Co-founder and CEO of Neochromosome, a synthetic biology company specialising in whole chromosome delivery and highly automated synthesis of complex DNA. Leslie, one of the minds behind the trailblazing Synthetic Yeast Genome Project, discusses the technology behind synthetic chromosome engineering, describes its potential applications, and addresses the challenges of scalability. Listen in as Patrick and Leslie discuss the processes behind chromosome engineering and the impact it could have on the world of gene therapies.
08 Feb
44 min 10 secEP 121: Breakthroughs and insights in ALS research with Dr. Michael Benatar
Welcome to this episode of The Genetics Podcast as we host Dr. Michael Benatar, a preeminent figure in the fight against Amyotrophic Lateral Sclerosis (ALS). Michael is a Professor of Neurology, the Chief of the Neuromuscular Division, and the Executive Director of the ALS Center at the University of Miami's Miller School of Medicine. Tune in as he and Patrick discuss research and treatment for presymptomatic gene carriers and other people at risk for ALS, as well as the future of ALS research.
01 Feb
43 min 47 secEP 120: Exploring the frontiers of gene therapy and AAVs with Dr. Nicole Paulk, CEO and Founder of Siren Biotechnology
In this episode, we welcome Dr. Nicole Paulk, CEO and Founder of Siren Biotechnology and former professor at University of California at San Francisco (UCSF). Dr. Paulk's journey from academia to the forefront of industry innovation offers a unique perspective into gene therapy and adeno-associated viruses (AAVs). Join us as we explore the futuristic applications of gene editing!
25 Jan
38 min 25 secEP 119: Revolutionising drug discovery: how the Pharma Proteomics Project is combining genetic and proteomic data with Chris Whelan
This week we’re joined by the Director of the Neuroscience Data Science: Discovery & Molecular Group at Johnson and Johnson, and Chair of the UKBiobank Pharma Proteomics Project (UKB-PPP), Chris Whelan. Chris helps lead the UKB-PPP, a project which aims to revolutionise biomarker discovery through tying together genetic and proteomic data and which has so far gathered more than 50k biological samples. Tune in as Patrick and he discuss how proteomics could change the future of drug discovery in neurology and beyond.
18 Jan
42 min 56 secEP 118: The role of genetics in drug discovery and development with Dr. Matt Nelson
Join Patrick as he welcomes Dr. Matt Nelson, an influential voice in the field of genetics and drug development. Matt is currently the Vice President of Genetics and Genomics at Deerfield Discovery, as well as the CEO of Genscience. Prior to his current roles, Matt spent 15 years at GlaskoSmithKline (GSK) as a Principal Scientific Investigator and the Head of Genetics. Tune in for an interesting discussion on how genetic data has shaped drug discovery and development over the past decade, and what is needed for the next great leap forward.
11 Jan
47 min 51 secEP 117: Wendy Chung: whole genome newborn screening and other big opportunities in genomic medicine.
In this episode we welcome Dr. Wendy Chung, Chair of the Department of Pediatrics at Boston Children’s Hospital and Professor at Harvard Medical School. Dr Chung has dedicated much of her career to uncovering the role of genetics in both rare and common diseases, and translating these findings into healthcare. Beyond her incredible science, Wendy has helped shape policy frameworks that govern the world of genetic medicine, and is now leading the pioneering GUARDIAN Study which has provided whole genome screening to >8,000 babies. Join us as we delve into the insights and experiences of a true pioneer in the
04 Jan
52 min 34 secEP 116: Genetics and Medicine: Clonal hematopoiesis, genomics in healthcare, and a new discovery in APOL1 kidney disease with Dr. Alex Bick
Join us for our first episode of 2024 as we welcome Dr. Alex Bick, Assistant Professor of Medicine in the Division of Genetic Medicine at Vanderbilt University. In this episode, we will explore the impact of clonal hematopoiesis on cancer and cardiovascular health, examine the integration of genomics in healthcare and preventative medicine, and discuss a recent finding from the Million Veterans Program of a modifier variant in APOL1 kidney disease.
27 Dec
95 min 11 secEP 115: The Biggest Stories of 2023 with Dr. Veera Rajagopal (Part 2)
In the second instalment of our annual round-up episode, we welcome back Dr. Veera Rajagopal to cover the biggest stories in genetics and precision medicine of the last 12 months.
21 Dec
70 min 35 secEP 114: The Biggest Stories of 2023 with Dr. Veera Rajagopal (Part 1)
In this annual round-up episode, we welcome back Dr. Veera Rajagopal to cover some of the biggest stories in genetics and precision medicine from 2023! Veera is a scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. He is a prolific writer as well, both on his substack, GWAS Stories, and on twitter, @doctorveera. Join us as Patrick and Veera cover the highlights of 2023, from Veera’s personal achievements to the approval of Casgevy and understanding the impacts of studying rare variants for drug development!
07 Dec
44 min 31 secEP 113: Harnessing human genetics to discover co-evolved small molecule medicines with Dr. Jason Park, CEO of Empress Therapeutics
In this episode of The Genetics Podcast, we welcome Dr. Jason, founder and CEO of Empress Therapeutics, a Flagship Pioneering company.
23 Nov
41 min 34 secEP 112: Making the leap: the scientists collaborating to transform genetic targets into next generation treatments, with David Ochoa
This week on The Genetics Podcast Patrick is joined by David Ochoa, Platform Coordinator at Open Targets. They discuss how the Open Targets platform is enabling game-changing collaboration between academic research and big pharma. Working with partners including Sanofi, GlaxoSmithKline, Bristol Myers Squibb, Genentech and Pfizer, Open Targets powers collaboration between some of the world’s biggest drug development pioneers and most renowned academic institutions with the goal of accelerating production of effective drug treatments.
09 Nov
35 min 34 secEP 111: Combining human and machine intelligence in protein engineering with Dr. James Field, CEO of LabGenius
In this episode of The Genetics Podcast, we welcome Dr. James Field, founder and CEO of LabGenius. Join us as we delve into LabGenius' cutting-edge approach that utilises machine learning, artificial intelligence, and sophisticated robotics to advance antibody discovery and drug development. As a bonus, learn about James’ path from scientist to CEO, and how he created LabGenius.
26 Oct
35 min 41 secEP 110: Educating the next generation of genomics talent, and the intersection of genetics and environment in cancer with Barbara Kraatz Fortini
On this episode of The Genetics Podcast we welcome Dr. Barbara Kraatz Fortini, Associate Professor of Genetics at Keck Graduate Institute (KGI). Tune in to learn about Barbara's research on non-coding variants in colorectal cancer and the interplay between genetics and the environment on lifetime cancer risk. As the Program Director for the MS in Human Genetics and Genomic Data Analytics at KGI, Barbara also shares her insights in genomics education for future scientists, physicians, researchers, and counsellors. You don’t want to miss this riveting episode!
12 Oct
34 min 58 secEP 109: From the Archives: Professor Sir Rory Collins on the Origins and Future of the UK Biobank
This week, we’re re-sharing one of our favorite episodes from the early days of The Genetics Podcast - one that many newer listeners may not have heard! Tune in as Professor Sir Rory Collins, Founder and Chief Executive of the UK Biobank, talks to us about the origins and evolution of this world-changing project that has catalysed a wave of new discoveries by levelling the playing field in data access. In this inspiring conversation, Professor Sir Rory Collins describes the ‘’If you build it, they will come get it” attitude of the UK Biobank. He believes that the pioneering and
28 Sep
35 min 32 secEP 108: Drug Development in Liver Disease: Breakthroughs, Challenges, and Insights with Dimitar Tonev
In this episode of The Genetics Podcast, we're joined by Dimitar Tonev, an experienced drug development consultant specialising in Hepatology and Virology. Tune in to discuss the recent reclassification of Non-alcoholic Steatohepatitis (NASH) to Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), and the complexities of identifying treatments for this condition. Dimitar sheds light on the pioneering role of non-invasive biomarkers and comments on the potential impacts of the Maestro study. Join us as we dive into the world of liver disease and drug development, touching upon the breakthroughs, challenges, and ethical considerations of clinical trials. For anyone interested in liver health
14 Sep
28 min 43 secEP 107: Integrating Genomics and Individualised Medicine into the Mayo Clinic Healthcare System with Dr. Konstantinos Lazaridis
In this episode of The Genetics Podcast, we welcome Dr. Konstantinos Lazaridis, the Executive Director of the Center for Individualized Medicine at the Mayo Clinic. Tune in to learn about the impacts of genomics and individualised medicine on rare liver diseases and advanced cancers . Discover how the Mayo Clinic actively uses genomic testing, precision medicine, and environmental interventions to improve patient outcomes.
31 Aug
26 min 29 secEp 106: The Colliding World of Rare and Common Disease Genetics with Caroline Wright, Professor of Genomic Medicine at Exeter University
In this episode, Patrick welcomes Caroline Wright, a leading expert in genomic medicine and Professor of Genomic Medicine at Exeter University. Listen in as they delve into the world of rare diseases, discussing the challenges in diagnosis, uses of population cohorts and, the potential of newborn screening. Caroline shares her excitement about new technologies in genomics and emphasises the importance of data sharing. Discover the significance of genetic variants and the need for cautious interpretation.
17 Aug
47 min 29 secEP105: Warren Huff, CEO and Chairman of Reata Pharmaceuticals, shares perspectives on provocative biology and the development of treatments for rare diseases
In this episode, Patrick welcomes J. Warren Huff, CEO and Chairman of Reata Pharmaceuticals. Reata is known for innovating small-molecule therapies for severe and life-threatening diseases. Listen in as Warren walks us through their approach of partnering with Universities to find scientific discoveries that could become the next generation of therapies, and Reata’s recent success developing a groundbreaking new treatment for Friedreich’s Ataxia (FA), thanks to close collaboration with patient organizations and novel use of natural history data to accelerate their clinical development. 0:00 The beginnings of Reata 2:40 Partnering with universities for breakthroughs in research 5:30 Implications of cancer
04 Aug
43 min 49 secEP104: Assessing the clinical utility of Polygenic Risk Scores in cancer screening with Professor Clare Turnbull
Join Patrick Short and Professor Clare Turnbull, Professor in Translational Cancer Genetics at the Institute of Cancer Research, as they discuss polygenic risk scores and their application in healthcare. Delve into the complexities of predicting disease, the challenges of screening programs, and the potential impact of integrating genomics into healthcare systems. Discover the limitations and potential of polygenic risk scores and gain valuable insights into the future of personalized medicine. 0:00 Intro 1:00 Clare’s path to becoming a clinical geneticist and her research in uncovering genetic links to cancer 3:20 How do Polygenic Risk Scores help to predict disease, particularly
20 Jul
43 min 33 secEP103: Gene Writing with Tessera Therapeutics CEO, Dr. Mike Severino
In this episode, Patrick is joined by Dr. Mike Severino, CEO of Tessera Therapeutics and CEO-Partner of Flagship Pioneering. Join us as Mike walks us through Tessera’s approach to treating genetic diseases by rewriting bases, exons, or even whole genes with a novel approach called Gene Writing. 0:00 Intro 1:00 What prompted you to join Flagship Pioneering? 3:32 How is Flagship able to innovate and invent novel therapies in ways that Big Pharma companies may find difficult? 5:00 Introduction to gene writing and the role of Tessera Therapeutics 8:22 The current limitations and challenges of gene writing 10:22 Gene knockouts
06 Jul
37 min 36 secEP102: Dr. Marco Schmidt, founder and Chief Scientific Officer of BioTx.ai, on how to use artificial intelligence and machine learning in genomics research
0:00 Intro 0:45 The founding of BioTx.ai 4:35 How do algorithms for ‘causal inference’ work? 6:30 Modeling gene interactions for genetic disorders 8:35 How to predict gene interactions 10:30 What happens after identifying a potential gene variant or interaction? 14:35 How can you use machine learning to determine causal relationships between gene variants and disease? 17:30 Deconvoluting genes and traits, and their impacts on effect size 19:20 Key ingredients in determining causal relationships: data and computational power 21:10 Limitations of using machine learning to find genetic determinants of rare diseases 24:30 Predicting clinical outcomes with Biotx.ai 28:05 Machine learning enhances
22 Jun
28 min 26 secEP101: Fostering international progress towards personalised medicine with Dr. Bettina Lundgren, CEO of the Danish National Genome Center
Join Patrick in welcoming Dr. Bettina Lundgren, CEO of the Danish National Genome Center. Bettina is spearheading the development of personalised medicine in Denmark with a focus on integrating genome sequencing directly into the healthcare system. She is dedicated to fostering international collaboration in research and healthcare delivery. Tune in to learn about the one of the leading national scale genomics initiatives, and Bettina’s r insights on the future of personalised medicine! 0:00 Intro 0:56 Bettina’s path to genomics 1:47 Aspirations of the Danish National Genome Center 4:18 Comparing the Danish National Genome Center to other global genomics programs 8:10
08 Jun
43 min 32 secEP100: Decoding DNA and engineering biology: perspectives on the future of genomics with Dr. Matthew Hurles, Director of the Wellcome Sanger Institute.
In this milestone episode, we welcome Dr Matthew Hurles, geneticist and pioneer in the field of human genomics. Dr Hurles has dedicated his career to unravelling the secrets hidden within our DNA, as well as harnessing cutting-edge research to revolutionise our understanding of genetic disorders, human evolution, and the potential for personalised healthcare. Join Patrick and Matt as they delve into the frontiers of genomic science, from the implications of newborn screenings to emerging technologies and the transforming role of researchers. 0:00 Intro 1:55 Genetics in the ’90s compared to genetics today 4:30 Work-life balance in science 8:00 Deciphering Developmental
25 May
45 min 12 secEP99: Exploring the frontiers of cancer research with Dr. Harold E Varmus
Join us for EP99 of The Genetics Podcast as Patrick dives into the extraordinary career and work of Dr. Harold E Varmus, a Nobel laureate scientist, former director of the National Institutes of Health, president of Memorial Sloan Kettering Cancer Centre, and director of the National Cancer Institute. Join Patrick and Harold as they navigate the complex landscape of cancer, from advancements that have revolutionized the field to diversity in cancer research and the Polyethnic-1000 Genome Project. This compelling episode is punctuated by Harold’s personal reflections, and invaluable learnings from his career. 1:27 Why a Beowulf quote made its way
11 May
38 min 37 secEP 98: Cancer, ageing, and somatic mutation variation across mammals with Alex Cagan (Wellcome Sanger Institute)
In this episode, Patrick is joined by Alex Cagan, a Postdoctoral Fellow in the Cancer, Ageing and Somatic Mutation programme at the Wellcome Sanger Institute, specialising in evolutionary processes in somatic tissue. Tune in as Alex walks us through a fascinating new study, years in the making, looking at somatic mutation rates across 16 mammalian species, spanning 30-fold in lifespan and around 40,000-fold in body mass. This work sheds light on fundamental questions in cancer and ageing across the tree of life. 0:00 Intro 6:00 Collaborating with the London Zoo, and the challenges of sourcing tissue from long-living animals 9:06
26 Apr
60 min 17 secEP 97: Proteomics deep dive with Cindy Lawley (Olink)
In this episode, Patrick is joined by Cindy Lawley, Senior Director of Population Health at Olink Proteomics and co-host of the Proteomics in Proximity podcast. Cindy has worked with major population genomics programs, including the UK Biobank, to bring together proteomics, genomics, and deep phenotyping using the Olink platform. Olink is one of the most promising proteomics technologies on the market, and the platform has been used in >1,000 publications, including landmark work in the UKBiobank to integrate genomics and proteomics. The largest Olink assay currently covers around 3,000 proteins, and the scale continues to grow, while costs are decreasing,
13 Apr
51 min 05 secEP 96: CEO of Montai Health, Margo Georgiadis, talks the intersection of nature and AI
Food is medicine. And leveraging its power to heal isn’t a new concept. In fact, roughly 50% of all small-molecule medicines are derived from nature. But what if we could use AI to better understand the biology of the millions of molecules humans already consume? What if we could then apply this information to identify new treatments for chronic diseases? This week, we’re welcoming the CEO of Montai Health, Margo Georgiadis, to the podcast to discuss their AI platform that uses literature and wet lab experiments to analyse “the most privileged chemistry on Earth” to find new treatments for chronic
31 Mar
38 min 56 secEP 95: Resharing Eric Topol on how Machine Learning & AI can Contribute to the Future of Healthcare
Progress in AI is accelerating, and the potential in healthcare and precision medicine is enormous. In 2019, we had the pleasure of speaking with Dr Eric Topol, author of ‘The Patient Will See You Now’ and ‘Deep Medicine’. Eric has had an incredible career which has been largely focused on researching cardiovascular disease and heart attacks, both of which he worked on in the Cleveland Clinic and Scripps Institute. Now, we’re reposting the interview as the conversation is more relevant than ever. Join Patrick and Eric as they discuss wireless medicine and the role of artificial intelligence and machine learning
16 Mar
44 min 52 secEP 94: Alnylam’s Dr Paul Nioi on how genetics is used in drug target discovery
“We’re pioneering the ability to detect genetic disease earlier, and actually intervene in a way that is going to help those patients.” In this jam-packed 45-minute episode, we’re joined by Dr Paul Nioi, Vice President of Discovery and Translational Research at Alnylam Pharmaceuticals and Chair of the Founders Board for Our Future Health. Join Patrick and Paul as they expose the two major reasons that 90% of clinical drug development fails, and why many believe that embedding genetics into target discovery and validation can increase the success rate of trials by 2-5 times. They also deep-dive into: the evolution of
24 Jan
41 min 20 secEP 93: International Perspectives on Access to Genetic Testing in ALS
Access to genetic testing for patients with genetic diseases, such as ALS, can vary dramatically based on country and postcode. For an ALS patient considering genetic testing in Canada, the reality of their federally-funded healthcare system is a far cry from the general perception. In the US, genetic testing access and cost varies widely between community healthcare settings, and academic research centers. And in the UK, accessibility to genetic testing can be a simple matter of geography. In this webinar, Paul Wicks leads the discussion with Professor Ammar Al-Chalabi, Dr Patrick Short and Kristina Salmon on international perspectives on genetic
05 Jan
13 min 41 secEP 92: Four Predictions for 2023
From changing drug pricing legislation to AI breakthroughs, in the first episode of The Genetics Podcast for 2023, Patrick makes four predictions for the biggest stories of 2023. We will check in at the end of the year to see how he did! For those interested in doing further reading, any resources mentioned during the podcast are linked below. https://www.wsj.com/articles/the-inflation-reduction-act-killing-potential-cures-pharmaceutical-companies-treatment-patients-drugs-prescriptions-ira-manufacturers-1166750829
24 Dec
89 min 46 secEP 91: 2022 Genetics Round-up with Dr Veera Rajagopal
If there’s one genetics podcast episode to listen to this year, it’s this one. In the final episode of The Genetics Podcast for 2022, we’re joined by Dr Veera Rajagopal, who is known as the ‘GWAS storyteller’ on Twitter for his prolific threads breaking down the latest findings in genetics. Join Patrick and Veera as they review the most exciting stories in genetics this year, from the impact the bubonic plague has had on human evolution and our modern day lives, to looking forward and celebrating more diverse, representative populations in genetics research. For those interested in doing further reading,
08 Dec
35 min 17 secEP 90: Patient-centric drug development in ALS with Ronald van der Geest, Chief Development Officer of Treeway
"If someone tells you it’s not possible, then it’s interesting" according to Treeway Chief Development Officer Ronald van der Geest. Founded in 2012 by two ALS patients who refuse to take their diagnoses lying down, Treeway develops novel treatments for ALS, Alzheimer's disease, and other neurodegenerative diseases. Join Patrick and Ronald in our latest podcast episode as they explore Treeway’s roots, the four major disciplines required for successful development of novel treatments, discuss the landscape of ALS treatment options in 2022, and celebrate the power of a small group of people, smart design and resilience.
24 Nov
33 min 22 secEP 89: Baroness Nicola Blackwood on the UK's leading role in delivering 'genomic healthcare for everyone'
This week Patrick is joined by Baroness Nicola Blackwood, the first female MP for Oxford. She was elected by MPs of all parties to Chair the Commons Science and Technology Select Committee. Baroness Blackwood remains the youngest-ever select committee chair in British history and the only woman to have held that position. Nicola is chair of Genomics England and has been a champion for genomics and the life sciences in UK policy. This episode covers the past, present, and future of genomics in healthcare in the UK and some of the exciting initiatives on the horizon, including whole genome sequencing
10 Nov
42 min 30 secEP 88: Precision oncology: how Next Generation Sequencing (NGS) is powering care today and the treatments of the future with Christine Ward (Takeda) and Geoff Oxnard (Foundation Medicine)
In this episode, guests Christine Ward, VP and Head of Oncology and Cell Therapy Precision & Translational Medicine at Takeda and Geoff Oxnard, Thoracic Oncologist and VP of Foundation Medicine talk to Patrick about Next Generation Sequencing (NGS) in precision oncology. Also covered are the impact of large-scale genetic datasets on patient diagnosis, data consortiums enabling pioneering discoveries, and the recent partnership between Takeda and Foundation Medicine.
27 Oct
49 min 46 secEP 87: Representation Matters: Why equitable access and community engagement are critical in genetic research
This episode, our Partnerships Lead, Lindsey Wahlstrom-Edwards dove into the importance of representation in genetic research, covering the techniques used by leading organisations to make research more accessible and representative. Lindsey is joined by Listen to speakers Natasha Ratcliffe of COUCH Health, Del Smith of Acclinate and Ebony Scott of Lupus Research Alliance to learn how to make sure your precision medicine study is inclusive by design.
13 Oct
36 min 59 secEP 86: Heidi Rehm PhD, Chief Genomics Officer at Massachusetts General Hospital on curating and collaborating genomic datasets to guide the future of diagnostic and clinical research
This week, Patrick speaks to Heidi Rehm, Chief Genomics Officer at Massachusetts General Hospital. Heidi is a leader in defining standards for the interpretation of sequence variants and is a principal investigator for Clinical Genome Resource, otherwise known as ClinGen. ClinGen provides free and publicly accessible resources to support gene and variant interpretation. Heidi also co-leads the Matchmaker Exchange, aiding gene discovery for rare diseases.
29 Sep
33 min 55 secEP 85: Dr Jessica Kissinger on large-scale parasite genomics and the power of multi-omic data
Dr Jessica Kissinger and her collaborators run some of the world's largest databases of multi-omic data from eukaryotic parasites. In this episode, we explore major findings in the field and Dr Kissinger's vision of large-scale interoperable datasets driving novel discoveries. Plus, Dr Kissinger shares her recent and personal experience of diagnosis with a rare disease, Ehlers-Danlos Syndrome, that puts everything into perspective.
01 Sep
34 min 50 secEP 84: Mark Kotter, CEO, and Founder of bit.bio, on creating every cell type and kickstarting a cell therapy revolution
Doctors have been transplanting organs for decades, but can we transplant reprogrammed stem cells to rejuvenate the human body? This week Patrick discusses transcriptional reprogramming, and bit.bio's opti-ox technology that has the potential to create every cell type and help kickstart a cell therapy revolution. With Mark Kotter Ph.D., neurosurgeon, and CEO and Founder of bit.bio.
11 Aug
45 min 10 secEP 83: Daphne Koller, Founder & CEO of Insitro - Integrating machine learning and biology at scale to reimagine drug discovery
About this Episode: This week’s guest, Daphne Koller, is the Founder and CEO of Insitro - a company shifting the paradigm of new drug discovery using predictive models. Patrick and Daphne talk about why she founded Insitro, how to create unified datasets, and the importance of being realistic about drug discovery.
13 Jul
45 min 39 secEP 82: Lessons from the world's largest genomic datasets with Daniel MacArthur, Director of the Centre for Population Genomics.
This week’s guest, Daniel MacArthur, is the Director of the Centre for Population Genomics at the Garvan Institute of Medical Research and Murdoch Children's Research Institute. Daniel and Patrick discuss the impact of large-scale genetic datasets on patient diagnosis and treating genetic subtypes of disease, the power of big data and consortiums to enable pioneering discoveries, and give advice for early career researchers thinking about the dichotomy between industry and academia.
29 Jun
42 min 38 secEP 81: Cracking the druggable genome with Dietrich Stephan, Founder and CEO of NeuBase Therapeutics
This week Patrick is joined by Dietrich Stephan, Founder and CEO of NeuBase Therapeutics. They discuss how to overcome the challenges of ’un-druggable’ diseases, how Neubase is cracking the druggable genome using its scalable technology, and how biotech companies are innovating to secure the investment needed to accelerate precision medicine during a challenging period for the industry.
15 Jun
24 min 39 secEP 80: Rare disease genomics and the 'near-coding' genome with Nicky Whiffin, Group Leader at the Wellcome Centre for Human Genetics
From decoding the genetics of rare disease using computational methods, to understanding the non-coding and 'near-coding' genome, this week Patrick is joined by Nicky Whiffin, Group Leader at the Wellcome Centre for Human Genetics and Sir Henry Dale Fellow at the University of Oxford. They discuss what it's like to create a brand new research group and the potential impact of whole genome sequencing on diagnosis rates.
01 Jun
30 min 24 secEP 79: The Unknown Causes of Kidney Disease Project with Michael Spigler, Vice President of Patient Support and Education at American Kidney Fund
In this week’s episode Patrick is joined by Michael Spigler, Vice President of Patient Support and Education at American Kidney Fund. They discuss how making genetic testing mainstream could significantly improve patient outcomes, why black Americans are four times more likely to experience chronic kidney failure, and what can be done to reduce the number of patients needing dialysis.
18 May
45 min 49 secEP 78: From datasets to front-line healthcare; polygenic risk scores and genomic prediction with Prof Sir Peter Donnelly, CEO of Genomics PLC
This week Patrick is joined by Sir Peter Donnelly, CEO of Genomics PLC and Professor of Statistical Science at the University of Oxford. They discuss how to get from data to implementation in the clinic, the challenges of polygenic risk scores including prediction across different ethnic backgrounds, and the role of genomics in drug discovery.
04 May
36 min 30 secEP 77: The journey to novel gene therapies for hearing loss and balance disorders with Laurence Reid, CEO at Decibel Therapeutics
This week’s guest is Laurence Reid, CEO at Decibel Therapeutics. He talks to Patrick about the journey to deliver novel gene therapies to patients with genetic hearing loss and balance disorders, the future of tackling hearing issues at birth, and his experience learning about the field of inner-ear biology and taking up the role of CEO at Decibel.
20 Apr
41 min 16 secEP 76: The UK Biobank Whole Genome Sequencing Project: building the future of genomics research with Dr Mark Effingham, Dr Kári Stefánsson and Professor Marylyn Ritchie
This week Patrick is joined by three pioneering guests united by one ground-breaking project: the UK BioBank’s Whole Genome Sequencing Project. Dr Mark Effingham, Deputy CEO of UK Biobank; Dr Kári Stefánsson, Founder and CEO of deCODE Genetics, and Professor Marylyn Ritchie, University of Pennsylvania, discuss the goals of the collaboration, it’s challenges, and the potential it has to change the future of genomics research.
06 Apr
40 min 58 secEP 75: Participant engagement in genomics research, with Nathalie Kingston, Director of the NIHR BioResource
This week’s guest is Nathalie Kingston, Director of the NIHR BioResource. She talks to Patrick about how the scale of the BioResource has grown dramatically over the last nine years, her most exciting moments as Director to date, and how the BioResource is using Sano's technology to accelerate and support its research programmes.
19 Dec
52 min 40 secEP 74: Biggest breakthroughs of 2021 with Personalized Medicine Podcast host, Oleksandr Yagensky
In the last episode of the year, Patrick joins forces with the host of the Personalized Medicine Podcast, Oleksandr Yagensky, to discuss six of the biggest and most exciting breakthroughs in genetics research in 2021. They talk about developments including cancer testing in healthy people, newborn genetic screening, AI and machine learning, stem cells, and more.
24 Nov
37 min 11 secEP 73: Ochre Bio: Building an in-silico liver model and addressing the impact and challenges of developing new treatments
In this week’s episode Patrick speaks to Quin Wills and Jack O’ Meara, Co-Founders of Ochre Bio, about their founding story, why in-silico discoveries could be the road to faster and lower cost liver therapeutics, and the need for prioritising preventative measures against disease as the average human lifetime gets longer.
10 Nov
32 min 25 secEP72: The DecodeME team on the challenges facing myalgic encephalomyelitis and chronic fatigue syndrome patients and the future of personalised treatments
In this week’s episode Patrick speaks to Sonya Chowdhury, Chris Ponting and Andy Devereux-Cooke from the DecodeME project, the world’s largest genetic myalgic encephalomyelitis (ME) and chronic fatigue syndrome study. They discuss the symptoms of ME, the challenges facing ME and chronic fatigue patients, the issues surrounding funding and the future of personalised treatments.
29 Oct
36 min 34 secEP 71: Chief Medical Officer at LyGenesis, Professor Paulo Fontes, on the future of organ transplants
This week’s guest, Paulo Fontes, is a Professor of Surgery and Chief Medical Officer at LyGenesis, an organ regeneration technology platform with a current focus on liver regeneration for patients with end stage liver disease. He talks to Patrick about how our lymph nodes can act as a 'bioreactor' to regrow functioning organs, how liver cells could be used in multiple transplants, and shares his thoughts on the future of organ transplants.
14 Oct
40 min 05 secEP 70: The University of Oxford's Professor Cecilia Lindgren: understanding complex disease through big data and team science
In this week’s episode Patrick speaks to Director of the Big Data Institute at University of Oxford, Professor Cecilia Lindgren, about her biggest eureka moment, the power of collaboration and consortiums across academia and industry to grow genetic sample sizes and accelerate research, and the importance of best practice standards to enable genetic research to scale successfully.
24 Sep
40 min 41 secEP 69: Chief Scientific Officer at Parkinson's Foundation, Dr James Beck, and Dr Ignacio Mata, Professor at the Cleveland Clinic, on the genetics of Parkinson’s disease and the future of precision treatments
What is the role of genetics in Parkinson’s disease? From the impact of variants in the LRRK2 gene, to the need to expand PD research in diverse populations to aid the development of new medicines, this week’s guests, Dr Ignacio Mata and Dr James Beck, talk to Patrick about the history, and future, of precision medicine development in Parkinson’s disease.
01 Sep
36 min 53 secEP 68: Dr Patrick Short features on GIANT’s Healthy Innovators Podcast and discusses the path to creating a successful startup in genomic medicine
In this special episode we’re sharing Patrick’s guest appearance on GIANT’s Healthy Innovators Podcast. He talks to the podcast’s host, Barry Shrier, about the need to accelerate the development of new treatment options, how personalised medicine is changing the future of healthcare and what it takes to create a successful startup in the genomic medicine landscape.
18 Aug
36 min 17 secEP 67: Dr Anna Lewis from the Edmond J. Safra Center for Ethics at Harvard, on the biggest ethical questions in DNA sequencing and editing
As more and more people get their DNA sequenced, through health care initiatives, biobanks and direct-to-consumer testing, an array of ethical questions arise. From how results are shared with research participants, to the ambiguities surrounding gene editing, Patrick and this week’s guest, Dr Anna Lewis, Research Associate at the Edmond J. Safra Center for Ethics at Harvard, dive deep into the big questions surrounding genetics and medicine.
04 Aug
46 min 00 secEP 66: Professor David Strain, Senior Clinical Lecturer at the University of Exeter Medical School, on the emergence of Long COVID, its impact and how research is vital for supporting patients
For many Long COVID patients the debilitating long-term symptoms they experience emerged after what, at first, appeared to be a mild COVID-19 infection. Professor David Strain, Senior Clinical Lecturer at University of Exeter Medical School and Honorary Consultant in Medicine, speaks to Patrick about the patterns he saw emerge while working on the frontline of the pandemic. From the first time David attended a meeting about COVID-19, at a 3am webinar broadcast from China, to working with Sano to help identify the genetic markers of Long COVID, they discuss the still emerging impact of the condition, from the first use
30 Jun
42 min 19 secEP 65: Dr Patrick Short guest features on The G Word podcast and discusses the power of translational research with CEO of Genomics England, Chris Wigley
In this special episode we’re sharing Patrick’s guest appearance on Genomics England’s new podcast, The G Word. Patrick speaks to Chris Wigley, CEO of Genomics England, about his work on the Deciphering Developmental Disorders (DDD) project during his PhD and how his career has focused on the power of translation research to directly impact on and improve people’s lives.
23 Jun
33 min 36 secPrecision Pioneers EP 8: Chief Medical Officer at ESCAPE Bio, Dr Carrolee Barlow, on developing precision medicines for genetic forms of Parkinson’s disease
How can precision medicine techniques be used to develop potential new treatments for genetic Parkinson’s disease? In the latest episode of our Precision Pioneers miniseries, Patrick speaks to Dr Carrolee Barlow, Chief Medical Officer at ESCAPE Bio, about the challenges of accessing genetic testing for Parkinson’s patients, how genetically guided treatments could help patients with the LRRK2 gene, and how new technologies such as wearable devices could help catch Parkinson’s cases at an earlier stage.
07 Jun
46 min 07 secPrecision Pioneers EP 7: Dr Vineeta Agarwala on investing in the future of precision medicine at the a16z bio fund
Can the speed and success of COVID-19 trials teach us how to run other trials 5x faster going forward? Can polygenic risk scores be effectively integrated into healthcare systems? Why do 'unique datasets' hold the key to future drug discovery? And why is there a disparity between precision medicine development in cancer and all other disease areas? Dr Vineeta Agarwala, General Partner at the Andreessen Horowitz Bio Fund, answers all these questions and more as she discusses the future of biotech and genomic medicine with Patrick.
19 May
48 min 22 secPrecision Pioneers EP 6: Chief Medical Officer at ASC Therapeutics, Oscar Segurado, on the break-through application of CRISPR gene editing to treat haemophilia
What have gene editing and gene therapies got to do with rockets and satellites? Oscar Segurado, Chief Medical Officer at ASC Therapeutics, explains in the sixth episode of our precision pioneers miniseries. Oscar joins Patrick to discuss the future of precision medicine and how CRISPR gene editing technology can be applied to treat haemophilia.
05 May
34 min 28 secPrecision Pioneers EP 5: Alnylam's Josh Friedman on developing precision medicines for the 'silent killer' NASH/NAFLD
On this episode of the podcast, Patrick is joined by Josh Friedman, Senior Director of Research at Alnylam Pharmaceuticals. Alnylam works on the discovery and development of RNA interference therapeutics; treatments for genetic diseases which work by ‘switching off’ the specific genes associated with a given condition. In this fifth episode of our precision pioneers miniseries, we explore how RNA interference can be applied to treat common and rare genetic diseases, and dive deep into the genetics of non-alcoholic fatty liver disease and NASH.
21 Apr
49 min 21 secPrecision Pioneers EP 4: Geneticist and Harvard professor, Robert Green on accelerating implementation of genomic medicine
On this episode of the podcast Patrick is joined by Robert Green, a geneticist, Professor of Medicine at Harvard, and Director of the Preventive Genomics Clinic at Brigham Health, whose work centers around accelerating evidence based implementation of genomic medicine. Through the Genomes2People research programme, Robert has led numerous randomised control trials of genetic sequencing in adults and newborns. Patrick and Robert discuss topics including testing for common complex disease risks in healthy adults, genetic testing for newborns, and what major barriers need to be overcome to realise the full potential of personalised medicine.
07 Apr
57 min 06 secPrecision Pioneers EP 3: CEO of Faze Medicines, Phil Vickers on 'Running toward challenges' in precision medicine development
Continuing with our mini series of Precision Pioneers, Patrick is joined by Phil Vickers, President and CEO at Faze Medicines. Phil discusses his career, including his time with companies such as Merck and Shire Pharmaceuticals. Topics discussed include: The differences between drug development in common and rare disease The unique and patient-centric approach to rare disease research at Shire How genomics has impacted drug development in the past 20 years How to balance affordability of new medicines with company profitability and continued R&D investment The role of 'platforms' in drug development, including both technology platforms and 'knowledge' platforms
25 Mar
55 min 31 secPrecision Pioneers EP 2 : Aristea Therapeutics CMO Nihar Bhakta on developing precision medicines for both common and rare diseases
This week Patrick talks to Nihar Bhakta as part of our series of ‘Precision Pioneers’. Dr Bhakta is the Chief Medical Officer at Aristea Therapeutics, a clinical-stage drug development company developing novel therapies to treat serious inflammatory diseases. Dr Bhakta specialises in precision medicine and in this episode they focus on his work developing precision medicines for both common and rare diseases. This is the second episode in a mini-series on ‘Precision Pioneers’ - stay tuned for more episodes in this area and find previous episodes by searching for The Genetics Podcast on any podcast provider.
03 Mar
51 min 07 secPrecision Pioneers EP 1: Variant Bio CSO Kaja Wasik on the power of human genetic diversity in drug development
This week Patrick is joined by Dr Kaja Wasik, CSO and co-founder of Variant Bio. Prior to Variant Bio, Kaja co-founded Gencove, a spin-out from the New York Genome Center and an innovator in low-pass whole genome sequencing and imputation. In this episode Patrick and Kaja discuss Variant Bio's approach to using human genetic data for novel drug development and their model for engaging deeply with communities who donate genetic samples and offer a share in the companies revenues. This is the first episode in a mini-series on 'Precision Pioneers' - stay tuned for more episodes in this area.
17 Feb
52 min 34 secEP 56: The business of start ups with Jason Mellad, CEO of Start Codon
On this episode, Patrick is joined by Jason Mellad, CEO and Co-Founder at Start Codon, a healthcare startup accelerator that helps develop healthcare startups. Patrick and Jason discuss how Start Codon identifies new technologies and businesses that have a potential to make an impact, Jason's approach to mentorship, diversity and inclusion, and even The LAB, a science-themed cocktail bar in Cambridge that Jason co-owns.
03 Feb
35 min 21 secEP 55: The Girl With MS talks about her journey with Multiple Sclerosis and advocacy
This week we talk to ‘The Girl With MS’, Caroline Craven. A Multiple Sclerosis patient advocate, Caroline has written thousands of blog posts about her journey with the condition to help others manage MS as well. They discuss options for treatment, what it’s like being a patient advocate in this space for over 10 years, and the importance of a good neurologist.
20 Jan
41 min 30 secEp 54: Genetic testing, breaking down stigma, and supporting people with Familial ALS with Daniel Barvin
In this episode of the Genetics Podcast we’re joined by Daniel Barvin, an ALS advocate whose family is affected by Familial ALS. Daniel has a genetic variant in the gene called C9orf72 that predisposes him to develop this neurodegenerative disease, and he talks about his experience getting genetic testing and decision with his wife to undergo IVF and pre-implantation genetic diagnosis to ensure that their child did not inherit the genetic variant. Daniel joins Patrick to discuss the lack of availability of genetic testing in ALS, how to make genetic testing more accessible, breaking down stigmas in hereditary disease, and
14 Jan
41 min 37 secEP 53: Predictions and trends to watch for the year ahead with Jane Theaker, Phillip Beer, and Jason Mellad
This first episode of 2021 sees host Patrick Short talk to three insightful guests about their predictions for research and medicine in the year ahead. In this compilation episode, Patrick talks to Jane Theaker, Phillip Beer and Jason Mellad, each experts in their field. Our guests are: Jane Theaker, the CEO of Kinomica Limited, a company at the fore of precision medicine that’s providing disruptive cell signalling technology. Jason Mellad, the CEO and Co-Founder of Start Codon a healthcare accelerator working to seed-fund truly disruptive healthcare start ups. Our final guest is Phillip Beer, a Physician scientist with expertise in
09 Dec
39 min 18 secEP 52: Population-scale viral sequencing with Dr Jeff Barrett, Lead Statistical Geneticist for COG-UK
On this episode of the podcast Patrick is joined by returning guest Dr Jeff Barrett. Jeff is the the lead statistical geneticist for The COVID-19 Genomics UK Consortium (COG-UK). Patrick and Jeff discuss COG-UK's sequencing operation that is tracking viral spread around the UK, how to identify super spreader events from virus data, what is known about re-infection from COVID19, and results from the vaccine trials and what the next year may hold.
26 Nov
48 min 10 secEP 51: 20-year study of 55,000 Canadians: Alberta's Tomorrow Project with Dr Jennifer Vena
On this episode of the podcast Patrick is joined by Dr Jennifer Vena the Scientific Director of Alberta’s Tomorrow Project. Although Jennifer joined ‘ATP’ in 2018, the project itself has been running for over twenty years with research plans that extend through the next fifty years. Patrick and Jennifer discuss the history of the ‘ATP’, its goals for the future, and the role Covid will continue to play including with research studies that are not directly associated with the disease.
11 Nov
45 min 31 secEP 50: Dr Barry Singer, the MS doctor who is using technology to connect with patients and scale his impact
Dr Barry Singer is a neurologist who specialises in multiple sclerosis, he is also the host of MS Living Well, a podcast that deals with living with multiple sclerosis. In 2007 Dr Singer created the website MS living well as a resource centre for patients looking to find information about the disease. In this episode, Patrick and Dr Singer talk about how advancements in technology have not only produced advancements from a scientific perspective but also in the doctor patient relationship. For example, Dr Singer reaches thousands of patients through his website, blog, and podcasts providing high-quality information to everyone,
29 Oct
45 min 29 secEP 49: Genomics in education and the social sciences with Dr Daphne Martschenko
Patrick interviews Dr Daphne Martschenko, a postdoctoral research fellow at Stanford University. Daphne’s work has focused on genomics and the American education system. She has published extensively in scholarly journals and mainstream outlets on the topic of education inequity, particularly among young people of color. Patrick and Daphne discuss the history of IQ testing, how genome-wide association analysis and polygenic risk scores are being applied to education, and the ethical issues surrounding gene editing technologies.
14 Oct
51 min 02 secEP 48: Tipping the Balance on Ulcerative Colitis with Seb Tucknott
Seb Tucknott is an author and patient advocate who was diagnosed with Ulcerative Colitis in 2008. In 2015 he founded IBD relief, an online community of others with the condition that also provides resources. Seb joins the podcast to discuss how to view the healthcare system from an outsider's perspective, making lifestyle changes, and his 2019 book 'Tipping the Balance'.
30 Sep
40 min 30 secEP 47: HDR-UK CEO Caroline Cake: Making the UK a world leader in health data science
Chief Executive Officer of Health Data Research UK Caroline Cake joins Patrick to talk about accelerating medical research through health data science. The two discuss the potential for research and innovation as well as the complexities of issues like patient privacy. Caroline gives Patrick some insight into the history and goals of HDR UK, one of the world’s top institutions for health data science.
16 Sep
38 min 04 secEP 46: Rebel Cell: Kat Arney's new book on Cancer, Evolution, and the Science of Life
Kat Arney returns to the podcast to discuss her new book ‘Rebel Cell’, which takes an evolutionary look at cancer. Kat talks about the book beginning as an idea while working on her PhD at Cancer Research UK to spending the last few years researching, conducting interviews and undertaking the book writing process. Patrick and Kat also discuss the narrative of a ‘war on cancer’ and the messaging of ‘beating cancer’ rather than managing it. You can find more information about 'Rebel Cell' and buy it here: https://www.rebelcellbook.com/
02 Sep
23 min 22 secEP 45 Steff Di Pardo on Ankylosing Spondylitis and Instagram as a support network for health communities
This week we talk to Steff Di Pardo, a patient advocate and writer who has Ankylosing Spondylitis - which is a chronic autoimmune disease. She talks about the long road to diagnosis, how she started opening up about her condition to friends and family on Facebook, and her decision to bring her refreshing honesty to a wider audience with her blog, Totally Chronic. Steff Di Pardo opens up about her experiences with how her chronic condition has impacted her mental health, being a part of online support networks (on platforms like Instagram) and her new book ‘Just Breathe’ which features
19 Aug
39 min 28 secEP 44 Bringing preventive health to 8 billion people: Peter Würtz from Nightingale Health on their pioneering blood testing platform
We talk to Peter about Nightingale Health's work with the UK Biobank, including recent research that shows their blood test could be used predict severe COVID19 well before onset of symptoms. The company's vision includes not just population-scale research like the UKBiobank, but creating a system that is focused on prevention and early detection rather than treatment.
05 Aug
43 min 23 secEP 43 Diversity in clinical research and COVID19's impact on people with immune conditions with Dr Sonya Abraham.
Sonya Abraham is a clinical senior lecturer in rheumatology and a research physician at Imperial College London. We talk to her about BAME representation in clinical research and about her rheumatology research, including the role of the microbiome, and what COVID19 researchers can learn from existing rheumatology research. We talk about why diversity is important in clinical trials, and the COVID19 pandemic's impact in the BAME community. We also discuss with Sonya how people with immune conditions, like Ankylosing Spondylitis, Lupus, Rheumatoid Arthritis, and others are at greater risk from COVID19, and uncertainties around the impact of common drugs on
29 Jul
33 min 51 secEP 42 Tapoka Mkandawire on the gut microbiome, neglected tropical diseases, and the power of citizen science
Tapoka Mkandawire is a PhD student in parasitology & genomics at the Wellcome Sanger Institute. She studies neglected tropical diseases, which affect hundreds of millions of people worldwide but aren't that well known in the UK. Tapoka talks about what’s causing the reducing rates of these diseases, and what role the gut microbiome plays in parasite life-cycle. From researchers who self-infect themselves with whipworms, to citizen science projects, and the crucial role the gut microbiome plays in everyone’s life.
25 Jul
50 min 27 secEP 41 Keith McArthur, the rare disease dad who is re-writing the rules in order to find a cure for his son - Live Podcast
Keith McArthur is one of the parents re-writing the rules for research in rare disease. Keith is CEO of the CureGRIN foundation, a non-profit backed by the Chan-Zuckerberg Initiative. Keith and his co-founder Denise Rehner believe that patients hold the power to accelerate research and drive progress, and that a cure for GRIN Disorders is possible. Keith is also the host of the podcast Unlocking Bryson's Brain, an award-winning podcast covering the Keith and Laura McArthur's search for the key that could unlock their son Bryson’s brain. Over 8 episodes, the podcast covers, Bryson's birth and diagnosis, gene editing technology
23 Jul
34 min 58 secEP 40 Professor Sir Rory Collins on the origins and future of the UKBiobank
Professor Sir Rory Collins, Founder and Chief Executive of the UK Biobank, talks to us this week about the origins of this world-changing project that has catalysed a wave of new discoveries in large part by levelling playing field in data access. In this inspiring conversation Professor Sir Rory Collins describes the 'if you build it, they will come' attitude of the UKBiobank, and how he believes the biggest impact from the UKBiobank is still to come. The conversation finishes with details on their COVID-19 work, which has involved not just members from the original 500,000 strong UKBiobank cohort, but
09 Jul
41 min 56 secEp 39 How hundreds of scientists from 50 nations are collaborating on Slack to study genetics & COVID19 with Dr Andrea Ganna
Andrea Ganna has been leading COVID19HG, a worldwide effort to understand the role that our genetics plays in COVID-19 infection and severity. In this episode, we discuss some of the group's findings so far and the origins of this initiative, which has now attracted hundreds of researchers from over 50 nations. Do you enjoy our podcasts? Would you like the chance to listen to them live and ask your own questions to our guest? Next week we're hosting our first ever live podcast, and we're taking registrations now! Find out more here: https://zoom.us/webinar/register/WN_sC0VSsigQhecZ75loF5HSw
30 Jun
38 min 45 secEP 38: Big Data in genomics - why we need 'the cloud' and AI to make sense of it all with Dr Maria Chatzou Dunford
Genomic data, is big data - so how do we actually make sense of this huge amount of data? And why should we use 'the cloud’ to store and analyse it? We discuss how the cloud enables faster, safer, and less expensive genomic data analysis, and what the future could look like when AI is used to analyse the vast amount of human genetic data being generated. In this episode, we talk to Dr Maria Chatzou Dunford, CEO and Co-Founder of LifeBit, a company that wants to democratise analysis of genetic big data. Lifebit's platform allows researchers to analyse existing
10 Jun
44 min 21 secEP 37: The future of medical research post COVID
This episode covers some of the dramatic changes in the field of medical research as a result of COVID19 making it unsafe for people to visit medical research facilities, and medical professional's time and efforts being redirected to fighting the new virus. The guests on the podcast are Paul Wicks, a digital health consultant and scientific advisor to Sano Genetics as well as several other digital health companies. Paul was previously the VP of Innovation at PatientsLikeMe, one of the worlds largest patient social networks and one of the first large-scale platforms for patients to share knowledge and connect with
27 May
25 min 18 secEP 36: Genomics England CEO Chris Wigley & Clinical Lead Richard Scott: sequencing 35,000 people with COVID19, the future of genomic medicine, and why patients are their 'north star'
Why do some people have a severe response to COVID-19, and others seem to have no symptoms at all? Is the answer in our genes? This week we talk to Chris Wigley, the CEO of Genomics England and Interim SRO for Data-NHSX, and Dr Richard Scott, the clinical lead for rare disease at Genomics England and consultant clinical geneticist at Great Ormond Street. Genomics England has led the UK into a new world of medicine with genetic sequencing, and it’s only just starting. Today, we’re focusing on the recently announced large scale human genome sequencing project launched by Genomics England
13 May
39 min 56 secEP 35: 8 weeks in - what it’s like to have COVID-19 with Adelina Chalmers
This week we talk about COVID19 and what it’s really like to have the virus. Talking to Adelina Chalmers, who first started experiencing symptoms 8 weeks ago - and was admitted to the hospital 6 weeks ago - talks about how it has been mis-sold as being just like the flu. Adelina is a podcaster and runs a consultancy called ‘The Geek Whisperer’ which helps engineers and their managers communicate with each other. Going through day by day symptoms, Adelina tells us how symptoms are non linear, and how it got worse just as it seemed like she was getting
29 Apr
28 min 28 secEP 34: 1 in 70 million - conversation with rare disease advocate David Rose
What’s it like having a disease so rare, you’re misdiagnosed? Or you’re the only one in the whole of the UK to have it? David Rose is a rare disease advocate, an ambassador for Great Ormond Street Hospital, and part of the team at Rare Revolution magazine, an online magazine dedicated to rare disease patients and their voices. He’s the only known person in the UK to have occipital horn syndrome and he tells us what it’s like to live with a rare disease - and why we should all be more aware of rare disease as a whole. David
15 Apr
48 min 18 secEP 33: Kat Arney on cancer research, epigenetics, and helping launch the ZOE app in the COVID19 crisis
How do you go from a cell to a baby? This question fixated Kat Arney at the beginning of her career, and pushed her towards epigenetics ‘before it was cool’. From travelling the globe asking how genes work, to her upcoming book ‘Rebel Cell’, she discusses the world of genetics. This week, Patrick talks to Kat Arney - a geneticist and science writer demystifies genetics on her fortnightly Genetics Unzipped podcast. They discuss the difference between the male and female response to coronavirus and her work on the COVID19 tracking ZOE app.
01 Apr
44 min 55 secEP 32: DNA sequencing to find our roots and solve cold cases, the ethics of DNA databases with Debbie Kennett
Through combining genealogy with DNA testing, more can be discovered about family relationships - making it a powerful tool for reuniting families, and even solving cold cases. This week, Patrick interviews Debbie Kennett - a genetic genealogist at the forefront of the field. Debbie started her search in the early 2000s on a personal mission to learn more about her maiden name (Cruwys) using genealogical tools. From there, her interest in genetic genealogy has grown and she explains this innovative new method to match people. They discuss the rise of DNA databases, how Facebook is a way to find lost
20 Mar
46 min 44 secEP 31: COVID-19 - the human response to the virus, and what the future may hold with Columbia University Virologist Dr Angela Rasmussen
In this week’s bonus episode we talk to Dr Angela Rasmussen (@angie_rasmussen), a Virologist at Columbia University. She answers top questions surrounding COVID-19 and what this outbreak could mean for our future. Does genetics or blood type may affect the virus? How does the virus actually work and how do we test for it? Get a fuller picture of the virus, what we know so far, and how we can prevent this happening again.
17 Mar
40 min 40 secEP 30: Patient powered research networks - the future of medical research with Jillian Hastings Ward
Today, Jillian Hastings Ward is a leader in the 100,000 genomes project, but she and her family started off as one of the first families whose DNA was sequenced by the project in 2015. She talks to Patrick about her son, Sam, who was one of the first children in the world to be diagnosed with a rare genetic disorder due to a fault in the GRIN1 gene. They discuss Jillian's vision for the future of 'patient-powered research networks' and the CureGRIN Foundation, which has received funding from the Chan Zuckerberg Initiative.
05 Mar
36 min 54 secEP 29: Is breath testing the new frontier in preventive medicine? Conversation with Billy Boyle, Founder and CEO of Owlstone Medical
Early detection for diseases like cancer is important to everyone, but Owlstone Medical is leading the pack by creating a breathalyser that aims to diagnose diseases in the ultimate non-invasive test. Their ground-breaking technology is completely painless and uses breath - not blood - for early detection and diagnosis of disease. Patrick talks to Billy Boyle in this episode about his role as CEO at Owlstone Medical and the reasons behind his drive towards early diagnosis. From cancer detection to the effects of air pollution, the potential future uses for this amazing technology seems unlimited while also removing the fear
19 Feb
60 min 12 secEP 28: Drug repurposing for rare disease and the future of health with Dr Bruce Bloom (CCO of Healx) and Dr Mike Tranfaglia (CSO of FRAXA)
In this double-bill episode, Patrick talks to two key rare disease researchers in the field: Dr Bruce Bloom, the CCO of Healx, and Dr Mike Tranfaglia, CSO of FRAXA. In this episode both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing.
06 Feb
35 min 06 secEP 27: From Big Data to New Medicines with Dr Jeff Barrett, CSO of Genomics PLC
Patrick interviews Dr Jeff Barrett from Genomics PLC about how genetic data can be used for drug discovery and the future of precision medicine. In this episode, Dr Barrett talks about going beyond genes to understand how they affect particular genetic risks and conditions. They also discuss the closeness of the genetics community and the sharing spirit when it comes to research.
23 Jan
45 min 57 secEP 26: Dr Matt Might: Ultra-rare disease advocate, precision medicine researcher, and Obama advisor
Patrick interviews Dr Matt Might, whose personal and professional life has brought him all the way to advising Obama and setting up his own institute. In this exciting episode, Matt discusses how he went from a computer scientist to becoming significantly involved in rare disease research, despite a lack of academic background in biology.
24 Dec
36 min 53 secEP 25: Ethics of DNA Marketplaces and Data Sharing with Dr Mahsa Shabani
Patrick talks to Dr Mahsa Shabani, a researcher at the Centre for Biomedical Ethics and Law, University of Leuven. From the golden state killer to blockchain, they discuss the latest ethical issues in genetics. They look at data sharing and involvement of patients in genomics research, and talk about Dr Shabani’s most recent paper, which looks at the ethical concerns with motivations for those who want to make their data available for research. Asking if people are choosing to share their data for financial reasons, is this ethical?
06 Dec
43 min 43 secEP 24: Diagnosis to clinical trial in 6 weeks with Gemma Stunt
Dr Patrick Short talks to Gemma Stunt about her son Bertie’s diagnosis of Duchenne muscular dystrophy, how to get involved in clinical trials and what life is really like with a currently ‘incurable’ genetic condition.
21 Nov
34 min 34 secEP 23: Microbiome in birth and health with Dr Yan Shao
Our guest this week is Dr Yan Shao from The Wellcome Sanger Institute, a non-profit British genomics and genetics research institute. In this episode, Dr Shao discusses the findings from his most recent study; where he and his team found significant differences in the microbiomes of newborn babies depending on delivery method.
29 Oct
60 min 51 secEP 22: Behind every data point is a person with Dr Paul Wicks
Get to know a little bit more about our new scientific advisor Dr Paul Wicks. Paul has dedicated much of his career to patient-centric research and building patient communities, particularly in rare disease. Paul has spent 17 years in the digital health and online community space, 13 of which were spent as a senior leader at PatientsLikeMe.
08 Oct
38 min 46 secEP 21: The Genetics of Alzheimer's with Dash Genomics and HealthLytix
This week on our podcast, we speak to Xing Xu from Dash Genomics and Renee George from HealthLytix about Alzheimer's disease. Dash Genomics has partnered with HealthLytix to produce a new model that helps you understand your individual risk of Alzheimer's disease. All you have to do is upload your DNA data from a consumer DNA test like Ancestry.com or 23andme. They then use research from two major universities to estimate your personalised risk for the condition.
04 Oct
46 min 02 secEP 20: Ring Chromosome 20 Syndrome with Allison Watson
In this episode Patrick Short speaks with Allison Watson the co-founder and secretary of Ring20 Research and Support UK patient organisation and the co-chair of EpiCARE’s patient advisory group. Allison discusses the Ring Chromosome 20 syndrome and the work of Ring20 Research and Support UK.
25 Sep
30 min 52 secEP 19: Dr Patrick Short Discusses the Personalised Genomics Industry
This episode was originally recorded for CUTalks, the podcast of the Cambridge University Technology & Enterprise club. In this podcast, CEO and Co-founder Dr Patrick Short discusses the personalised genomics industry, as well as his journey from PhD to founder and some important lessons he learnt along the way.
19 Sep
36 min 03 secEP 18: Elin Haf Davies: How Aparito Uses Wearables & Mobile Apps to Run Patient-Centric Clinical Trials
Our guest this week is Elin Haf Davies, who is the CEO of Aparito - a technology company that focuses on patient-generated health data. Elin is also an inspirational speaker, trans-atlantic rower and pediatric nurse. In this episode we discuss clinical trials, the use of technology in patient-centric studies and the work of Aparito.
10 Sep
24 min 59 secEP 17: Genetics News (September 2019)
Last week, the shocking story that sick migrants undergoing lifesaving care can now be deported hit the NY times - but what effect will it have on clinical trials in America? Find out in this episode of our podcast, where we discuss the top four genetic news stories from September 2019. Also featured in this episode: A 500,000 genome wide study into the genetics of homosexuality, the FDA getting stricter on pharmacogenomic tests and new epigenetic signatures in Alzheimers.
06 Sep
67 min 45 secEP 16 Policy Development and Patient Engagement for Rare Disease with Alistair Kent
This week on our podcast, we speak to Alastair Kent, a world leader in policy development and patient engagement for rare disease. In this episode, we discuss how research is changing in rare conditions and what part DNA sequencing and data sharing are playing in this.
23 Aug
34 min 12 secEP 15 DNA Today host Kira Dineen discusses Genetic Counselling
This week on our podcast we speak to Kira Dineen, a genetic counsellor in training and host of DNA Today. We ask Kira what she’s learned from more than 200 hours of conversation with leading doctors and researchers in genetics, as well as some questions about genetic counselling and her experience. This is part one of a special two-part episode. The other half of the podcast will be featured on DNA Today so make sure you head over to DNA Today for the rest!
21 Aug
29 min 39 secEP 14 Genetics News
In this episode, we cover the latest genetics news stories including; 1) 23andMe’s plan to start collecting health data 2) New research that’s sounding alarm bells about the accuracy of genotyping tests 3) The largest-ever study of genetics and PTSD 4) A new $160 million round of funding for a SanFrancisco-based company working on the early detection of cancer 5) A breakthrough cure for another rare disease, amyloidosis, that’s just been approved in the UK
13 Aug
34 min 01 secEP 13 How Eurocentricity is holding genetics back with Dr. Alicia Martin
Dr. Alicia Martin, a researcher at the Massachusets General Hospital and the Broad Institute of MIT and Harvard, discusses the issues surrounding Eurocentricity in genetics studies.
06 Aug
10 min 55 secEP 12 Q&A: Quora's Top Genetics Questions
Dr Patrick Short answers the top genetic questions on quora. Which include: 1) How reliable is the DNA testing offered by sites like Ancestry.com or 23andMe? 2) Does DNA testing for diet and fitness really work? 3) Does 23andMe provide accurate results for people of Indian heritage? 4) How much of the genome does 23andMe sequence? Can their data be used to study disease? 5) How seriously would you take the DNA ancestry and health reports from a place like 23andMe?
31 Jul
12 min 37 secEP 11 Neil Bennett, Director of Research at Action Duchenne
We recently held an event bringing together charities and patient registries to help them take the next step in doing genetic research. One of our speakers was Neil Bennett, the Director of Research at Action Duchenne and he discussed how they set up a patient registry as well as their approach to the challenges and opportunities in doing genetic research. Action Duchenne was formed in 2001 and was the first national charity dedicated to supporting those living with Duchenne Muscular Dystrophy.
23 Jul
38 min 23 secEP 10 Eric Topol on how Machine Learning & AI can Contribute to the Future of Healthcare
We had the pleasure of speaking with Dr Eric Topol, author of ‘The Patient Will See You Now’ and ‘Deep Medicine’. Eric has had an incredible career which has been largely focused on researching cardiovascular disease and heart attacks, both of which he worked on in the Cleveland Clinic and Scripps Institute. In this episode, we discuss wireless medicine and the role of artificial intelligence and machine learning in medicine and healthcare.
16 Jul
35 min 45 secEP 9 Conversation with Gencove CEO & Human Genetics Researcher Joe Pickrell
Human Genetics Researcher Joe Pickrell is the CEO of Gencove who offer low-pass sequencing technology which is both cost-efficient and provides highly accurate variant calls across the whole genome. Having trained as a statistical geneticist, Joe discusses his early work with Jonathan Pritchard, developer of Structure and his work at the New York Genome Center to reduce the cost of whole-genome sequencing using computational methods such as imputation. This interesting discussion covers a range of topics from low-pass sequencing to eQTL to the ways in which modern humans are still evolving.
09 Jul
17 min 34 secEP 8 Dr Sonya Abraham on biologics, arthritis and the gut microbiome
Sano Genetics CEO Dr Patrick Short interviews Dr Sonya Abraham, a researcher at Imperial College, London who looks at different conditions like arthritis and psoriasis to discuss biological therapies (or biologics) and how the gut microbiome affects these treatments.
02 Jul
28 min 32 secEP 7 Impute.me creator Lasse Folkersen discusses his passion project
Lasse Folkersen discusses how he started impute.me as a passion project, out of sheer curiosity to understand his own genes and to help others with the same intention and as a result, he has now sequenced his entire living family. We discuss impute.me’s stance on data privacy where users data is automatically deleted after 14 days as well as the smart way impute.me keeps costs down and keep the platform running solely from donations.
18 Jun
26 min 19 secEP 6 The Phlebotomist Depicts a Dystopian Future Governed by DNA Testing
The Phlebotomist is a play written by Ella Road which imagines a future where your genetic rating influences every aspect of your life and is determined through a single blood test. We spoke with Ella to find out about her inspiration and the cross overs between modern day genetic testing and The Phlebotomist. The radio adaptation of The Phlebotomist is available now in the UK on BBC iPlayer.
11 Jun
26 min 25 secEP 5 Could Weed Killer Cure This Rare Disease (Alkaptonuria)?
We talk to Nick Sireau (co-founder of Findacure and chairman of the AKU society) about his two sons, who were both born with Alkaptonuria which is an ultra-rare genetic condition that causes the bone's surface to turn black and corrode. Nick has worked tirelessly to help establish a new clinical trial, exploring whether a chemical originally used as a weed killer could provide a treatment for this debilitating condition. So far the signs are very positive, but Nick is currently awaiting the final results which will be disclosed in September.
30 May
27 min 04 secEP 4 The Genetics of Depression
Dr Cathryn Lewis is a highly regarded Professor of Genetic Epidemiology and Statistics at King's College London. Previously in her career Dr Lewis significantly contributed to research on the breast cancer genes BRA1 and BRCA2. She now leads the Statistical Genetics Unit at Kings College London. Dr Lewis joins us for this episode to discuss her latest research and the link between genetics and depression.
17 May
29 min 45 secEP 3 A Diet Which Helps You Fit in Your Genes
Dr Giles Yeo is a geneticist at the University of Cambridge, a public speaker, TV presenter and the brilliant author behind Gene Eating. We sit down to speak with Giles about how our genetics influence our diet and our behaviour towards food.
08 May
32 min 07 secEP 2 What One Man Learnt From Over 300 DNA Tests
Is Craig one of the most thoroughly DNA tested people on the planet? Quite possibly, but one thing's for sure, his company (dnatestingchoice.com) know a thing or two about a good DNA test. This fascinating discussion with Craig Macpherson explores the start of direct to consumer DNA testing, why these companies are so successful. As well as his thoughts on ancestry testing, current practices around data privacy and the future of genetic testing.
03 May
2 min 23 secEP 1: Introducing...The Genetics Podcast!
Welcome to The Genetics Podcast! Since 2019, we've been interviewing researchers, entrepreneurs, scientists, and experts in the field of genetics, including leaders in the field like Dr Eric Topol, Dr Daphne Koller, Dr Robert Green, Sir Rory Collins. Some of the topics that have been covered in the podcast include the latest developments in genetic research, ethical considerations in genetics, the impact of genetics on personalized medicine, and more. This podcast is for scientists, entrepreneurs, business leaders, and anyone else who wants to go deep into the latest in genomics and precision medicine.
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