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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 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.
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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 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. -
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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 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 disorders, the role of RAB32 in Parkinson's disease (PD), insights into monogenic conditions like systemic lupus erythematosus, and new perspectives on Alzheimer's genetics. Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera.
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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 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. -
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.
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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 sustainable model for bringing genomic medicine into primary care. -
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 Electronic Health Records. -
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. -
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 exciting discussion!
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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 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!
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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 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
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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 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!
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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 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!
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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 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!
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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 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 by FiercePharma, where he was listed among the top 8 most famous geneticists in human history. All to say, you won’t want to miss this episode with a genetics superstar!
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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 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!
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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 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 forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera.
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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 developments for those with neurodegenerative conditions, you will want to listen to this episode!
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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 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 for prediction and prevention of PD.
You won’t want to miss this insightful episode featuring two of the preeminent experts in Parkinson’s disease and precision medicine. -
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!
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