Speaker Profile
M.D., Consultant, Harvard Medical School; Chair, UDNF Board of Directors, UDNF
Biography
F. Sessions Cole is an advocate for the patient- and research-informed model of care developed by the Undiagnosed Diseases Network which has solved ~1,000 medical mysteries through team science over the last 11 years. As a neonatologist, he contributed in the 1990s to the discovery of the first monogenic cause of progressive, lethal respiratory failure in term infants (surfactant protein B deficiency) and its treatment with infant lung transplantation. Since then, he has participated in the diagnosis of multiple ultra-rare genetic diseases among undiagnosed individuals. His research focuses on using advanced computational genomic analysis and a variety of cell- and model organism-based platforms for functional characterization of pathogenic variants in infants, children, and adults with undiagnosed and ultra-rare conditions. He has also led efforts to develop prioritization of mechanism-based, patient-informed therapeutic strategies for ultra-rare conditions.
Session Abstract – PMWC 2027 Silicon Valley
Track Chair:
Ed Kim, City of Hope
PMWC Award Ceremony
• Mark Daly, Broad Institute / FinnGen
• Gordon Sanghera, Oxford Nanopore Technologies
The Data Factory: Integrating Millions of Genomes for Variant Interpretation
• Chair: Stephen Montgomery, Stanford University
• Carlos Bustamante, University of Oklahoma
• Mark Daly, Broad Institute
• Manuel Rivas, Stanford University
• Mark McCarthy, Genentech
• Nilah Ioannidis, UC Berkeley / UCSC
Keynote: Biobanks and the Road Ahead in Human Genetics
• Mark Daly, Broad Institute
Beyond the Read: Long-Read Sequencing in Clinical Variant Pipeline
• Chair: Kathleen Barnes, Galatea Bio
• Gordon Sanghera, Oxford Nanopore Technologies
• Hanlee Ji, Stanford
• Barrett Bready, Nabsys
DNA to Drug, Label & Coverage
• Chair: Razelle Kurzrock, Medical College of Wisconsin
• Edward Kim, City of Hope
• Slavé Petrovski, AstraZeneca
• Wei Zhou, Broad Institute
PMWC Award Ceremony
• Scott Gottlieb, New Enterprise Associates
Fireside Chat
• Lauren Silvis, Tempus
• Scott Gottlieb, New Enterprise Associates
25+ Years of the Human Genome: From Bench to Bedside to Beyond
• Chair: Ralph Snyderman, Duke University
• Craig Venter, J. Craig Venter Institute
• Brook Byers, KPCB
• Lee Hood, Phenome Health
