Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com
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EP 172: Racial health disparities in genetic testing and breast cancer treatment with Dr. Versha Pleasant of University of Michigan
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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 i…
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EP 171: The past, present, and future of long-read sequencing with Jonathon Hill of Wasatch Biolabs
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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 Biol…
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EP 170: Pan-European collaboration and dementia research with Angela Bradshaw, from Alzheimer Europe
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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 p…
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EP 169: Common variants in rare neurological diseases with Hilary Martin of the Wellcome Sanger Institute
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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 …
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EP 168: A world-first in RNA medicines with Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences
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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 the…
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EP 167: Research Roundup with Dr. Veera: Wrapping up 2024 in four pioneering papers
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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 disco…
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EP 166: Developing targeted therapies for ALS with Eric Green from Trace Neuroscience, Maze Therapeutics, and Stanford University
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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 biotech…
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EP 165: Harnessing CRISPR and RNA editing to transform healthcare with Dr. Ness Bermingham
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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…
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EP 164: Groundbreaking advances in MMR-deficient rectal cancer, liquid biopsies, and precision oncology with Dr. Luis Diaz
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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 episod…
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EP 163: The intersection of loss and genetic insight with Susan Liebman of University of Nevada
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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-r…
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EP 162: The genetics of isolated communities with Professor Jim Wilson of the University of Edinburgh
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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…
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EP 161: How large language models can help build immunotherapies with Michelle Teng of Etcembly Ltd.
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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 …
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EP 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
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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…
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EP 159: Engineering macrophages to tackle rare disease with Noam Baumatz of Noga Therapeutics
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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.…
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EP 158: Research Roundup with Dr Veera: Discoveries in neurogenetics, evolution, cardiac arrhythmias, and more!
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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.…
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EP 157: Bridging genomics, business, and equity in healthcare access with Mark Taylor of LGC Group
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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 underrepresent…
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EP 156: The Genetics Podcast In-Person Event!
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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!By Sano Genetics
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EP 155: Adeno-associated virus as a delivery vector for genetic eye disease treatment, with Paul Wille of Abeona Therapeutics
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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…
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EP 154: Pioneering early disease detection through wearable devices and regular monitoring with Dr. Mike Snyder
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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…
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EP 153: How genomics is re-writing the taxonomy of disease with Lon Cardon, President and CEO of The Jackson Laboratory
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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 taxo…
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EP 152: Unlocking the secrets of gene regulation with Nadav Ahituv, Director of the Institute of Human Genetics at UCSF
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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 evolu…
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EP 151: Understanding cell ageing and its role in disease with Marco Quarta Co-founder and CEO of Rubedo Life Sciences
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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 n…
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EP 150: Cracking the biological code of aging with Martin Borch Jensen, Co-Founder and Chief Scientific Officer at Gordian Biotechnology
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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 bi…
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EP 149: Sequencing 33 million samples to support the UK’s COVID-19 response with Tony Cox, CEO of UK Biocentre
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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 r…
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EP 148: Advancing veteran health through the Million Veteran Program with Dr. Mike Gaziano, professor of medicine at Harvard Medical School
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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, militar…
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EP 147: From research to delivering precision medicine in the clinic with Scott Weiss, Professor of Medicine at Harvard University
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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 lar…
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EP 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
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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 po…
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EP 145: Navigating rare disease drug development regulations with Daniel O’Connor
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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 dise…
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EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's
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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 episo…
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EP 143: Harnessing human data in drug development with Jakob Steinfeldt, Co-Founder and Chief Scientific Officer at Pheiron
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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 revoluti…
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EP 142: From genome to bedside: How genetics is transforming modern medical practice with Dr. Andrea Gropman
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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 c…
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EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University
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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 sustain…
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EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre
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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, …
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EP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering
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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 b…
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EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken
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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 reconstruc…
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EP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research
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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 i…
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EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson
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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 awarenes…
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EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm
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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 no…
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EP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today
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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 podcastin…
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EP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern
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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 Lo…
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EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church
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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 IARP…
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EP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens
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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 San…
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EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal
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51:56
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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 episo…
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EP 129: Patient advocacy for genetic ALS and FTD with Jean Swidler, Executive Director of End the Legacy
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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 dev…
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EP 128: Parkinson’s disease and precision medicine with Drs. James Beck and Ignacio Mata
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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 di…
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EP 127: Insights into precision medicine, fatty liver disease, and minimally invasive diagnostic tools with Dr. Mazen Noureddin
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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 testin…
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EP 126: Patient-led research for ultra-rare disease drug development with Julia Taravella, Executive Director of Rare Trait Hope Fund
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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 t…
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EP 125: The future of UK Clinical Trial Policy: Innovation, integration, and game-changing legislation with Lord James O’Shaughnessy
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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 e…
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EP 124: How ReCode Therapeutics is pioneering tissue specific delivery of gene therapies for Primary Ciliary Dyskinesia with John Matthews
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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 Sa…
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EP 123: The ethics of newborn genome screening: Actionable insights and beyond with Holly Peay, Senior Research Scientist at the Research Triangle Institute
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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. T…
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