From genetics to biology of human height, obesity, and other polygenic traits

Joel Hirschhorn MD, PhD, Boston Children's Hospital, Broad Institute, Harvard Medical School, Division of Endocrinology, Department of Pediatrics

Dr. Hirschhorn's research focuses on genetic variation that influences human diseases and quantitative traits. The goals are to discover associated variants and to use multiple methods to translate genetic discoveries into actionable biological insights to guide therapeutics and preventive measures. He chairs the GIANT consortium, which has discovered many of the common and low frequency variants known to be associated with anthropometric traits, including measures of obesity and height, and recently mapped nearly all the regions of the genome that contain common height-associated variants. Other areas studied by the lab include metabolomics and the relationships with genetics, diet, and cardiometabolic disease, and the genetics of other disorders including diabetic kidney disease and hypermobile Ehlers Danlos syndrome.