Robert Bauer, PhD
November 12 @ 11:00 am – 12:00 pm
Genome to Mechanism: Biological Insights from Human Cardiometabolic Genetics
Human genetics has proven remarkably powerful for discovering genomic loci associated with cardiometabolic disease. However, the translation of these genetic findings into biological mechanisms has greatly lagged behind discovery. This seminar presents recent mechanistic insights on two such loci. The first is the 19q13 locus, which associates with plasma cholesterol, triglycerides, obesity, and type 2 diabetes, and Dr. Bauer will discuss findings linking the transcription factor C/EBPα to hepatic LDL-C clearance, visceral adiposity, and glycemic traits. The second is the 15q25 locus and the metalloproteinase ADAMTS7, where new findings illuminate how this enzyme promotes atherogenesis by regulating smooth muscle cell foam cell formation. Together, these studies underscore the potential of human genetic discovery to reveal unexpected biological mechanisms underlying cardiometabolic disease
Florence Irving Assistant Professor of Medical Sciences, Cardiometabolic Genomics Program, Div. of Cardiology, Dept. of Medicine, Columbia University Irving Medical Center, New York, NY