Our goal is to understand how naturally occurring human genetic variation protects (or predisposes) some people to cardiovascular and metabolic disease—the leading cause of death in the world—and to use that information to develop therapies that can protect the entire population from disease. Our strategy is to identify patients, families, and cohorts with disease; to use genetic techniques such as genome-wide association studies and exome sequencing to identify novel DNA variants and genes linked to disease; to use human cell-based models and mouse models to understand how the DNA variants affect gene and protein function; and to use these mechanistic insights to begin the process of developing new therapies that will benefit patients and populations.

In particular, we are interested in using human pluripotent stem cells to create human-derived tissues, containing specific DNA variants, as genetic disease models in which environmental and epigenetic influences have been minimized.