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
Davos of Precision Medicine
PMWC 2027 Program
January 27–29, 2027 · Santa Clara Convention Center
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