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 provider...
Aug 15, 2024•37 min•Transcript available on Metacast 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 an...
Aug 08, 2024•43 min•Transcript available on Metacast 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 unl...
Aug 01, 2024•39 min•Transcript available on Metacast 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 y...
Jul 25, 2024•57 min•Transcript available on Metacast 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...
Jul 18, 2024•36 min•Transcript available on Metacast 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 considera...
Jul 11, 2024•43 min•Transcript available on Metacast 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.
Jul 04, 2024•43 min•Transcript available on Metacast 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 ...
Jun 27, 2024•53 min•Transcript available on Metacast 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...
Jun 20, 2024•45 min•Transcript available on Metacast 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 ...
Jun 06, 2024•40 min•Transcript available on Metacast 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 ...
May 30, 2024•42 min•Transcript available on Metacast 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 pa...
May 23, 2024•41 min•Transcript available on Metacast 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 ...
May 16, 2024•41 min•Transcript available on Metacast 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...
May 09, 2024•41 min•Transcript available on Metacast 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 ...
May 02, 2024•39 min•Transcript available on Metacast 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 ...
Apr 25, 2024•48 min•Transcript available on Metacast 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 mechan...
Apr 18, 2024•45 min•Transcript available on Metacast 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 y...
Apr 11, 2024•52 min•Transcript available on Metacast 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!
Apr 04, 2024•39 min•Transcript available on Metacast 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...
Mar 28, 2024•50 min•Transcript available on Metacast 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,...
Mar 21, 2024•39 min•Ep 127•Transcript available on Metacast 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.
Mar 14, 2024•40 min•Ep 126•Transcript available on Metacast 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...
Mar 07, 2024•45 min•Ep 125•Transcript available on Metacast 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 ...
Feb 29, 2024•42 min•Ep 124•Transcript available on Metacast 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 ap...
Feb 22, 2024•46 min•Ep 123•Transcript available on Metacast 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. Lis...
Feb 15, 2024•36 min•Ep 122•Transcript available on Metacast 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.
Feb 08, 2024•44 min•Ep 121•Transcript available on Metacast 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!
Feb 01, 2024•44 min•Ep 120•Transcript available on Metacast 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 n...
Jan 25, 2024•38 min•Ep 119•Transcript available on Metacast 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 wh...
Jan 18, 2024•43 min•Ep 118•Transcript available on Metacast 
