EP 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

Om avsnittet

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.

Om avsnittet

Fler avsnitt

EP 257: Managing hereditary cancer risk and medical uncertainty with Marleah Dean Kruzel of the University of South Florida

EP 256: Cutting through the AI hype in drug discovery with Dave Hallett of Recursion

EP 255: Turning long-read sequencing into a routine part of clinical care with Danny Miller of the University of Washington

EP 254: Triangulating genetic evidence and dodging bias to pick winning drug targets with Brent Richards of 5 Prime Sciences

EP 253: The genetics of brain size, growth, and aging with Andrew Jackson of the University of Edinburgh

EP 252: The diagnosis that became a mission to cure rare disease: Advancing genetic medicine using AI with Stevie Ringel of Nome

EP 251: Cracking the delivery barrier in genetic medicine with Jagesh Shah of Mirai Bio

EP 250: Redefining rare disease realities with Sharon Terry of the Genetic Alliance [Re-run]

EP 249: Building the world's most detailed genetic map of inflammatory bowel disease with Carl Anderson of the Wellcome Sanger Institute

EP 248: The blood mutations rewriting cardiovascular risk: Clonal hematopoiesis and polygenic risk with Pradeep Natarajan of Massachusetts General Hospital