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...
Jan 11, 2024•48 min•Ep 117•Transcript available on Metacast 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.
Jan 04, 2024•53 min•Ep 116•Transcript available on Metacast 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.
Dec 27, 2023•2 hr 35 min•Ep 115•Transcript available on Metacast 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 a...
Dec 21, 2023•1 hr 11 min•Ep 114•Transcript available on Metacast In this episode of The Genetics Podcast, we welcome Dr. Jason, founder and CEO of Empress Therapeutics, a Flagship Pioneering company.
Dec 07, 2023•45 min•Ep 113•Transcript available on Metacast 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 pr...
Nov 23, 2023•42 min•Ep 112•Transcript available on Metacast 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.
Nov 09, 2023•36 min•Ep 111•Transcript available on Metacast 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...
Oct 26, 2023•36 min•Ep 110•Transcript available on Metacast 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, th...
Oct 12, 2023•35 min•Ep 109•Transcript available on Metacast 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 Maestr...
Sep 28, 2023•36 min•Ep 108•Transcript available on Metacast 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.
Sep 14, 2023•29 min•Ep 107•Transcript available on Metacast 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 interp...
Aug 31, 2023•26 min•Ep 106•Transcript available on Metacast 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 o...
Aug 17, 2023•47 min•Transcript available on Metacast 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. ...
Aug 04, 2023•44 min•Transcript available on Metacast 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 g...
Jul 20, 2023•44 min•Transcript available on Metacast 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:...
Jul 06, 2023•38 min•Transcript available on Metacast 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 Int...
Jun 22, 2023•28 min•Transcript available on Metacast 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 technol...
Jun 08, 2023•44 min•Transcript available on Metacast 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...
May 25, 2023•45 min•Transcript available on Metacast 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 ...
May 11, 2023•39 min•Transcript available on Metacast 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 UKBio...
Apr 26, 2023•1 hr•Transcript available on Metacast 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 we...
Apr 13, 2023•51 min•Transcript available on Metacast 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...
Mar 31, 2023•39 min•Transcript available on Metacast “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 targe...
Mar 16, 2023•45 min•Transcript available on Metacast 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 t...
Jan 24, 2023•41 min•Transcript available on Metacast 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-manuf...
Jan 05, 2023•14 min•Transcript available on Metacast 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 celebratin...
Dec 24, 2022•2 hr 30 min•Transcript available on Metacast "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 treatment...
Dec 08, 2022•35 min•Transcript available on Metacast 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 he...
Nov 24, 2022•33 min•Transcript available on Metacast 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.
Nov 10, 2022•43 min•Transcript available on Metacast 
