Dr. Hirschhorn is the Concordia Professor of Pediatrics and Professor of Genetics at Boston Children’s Hospital/Harvard Medical School and an Institute Member of the Broad Institute. His research focuses on genetic variation that influences human diseases and quantitative traits. He leads 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. Other areas studied by the lab include diabetic kidney disease, Ehlers-Danlos syndrome (hypermobile type), sickle cell disease, and disorders of sex development. In addition to using human genetics, the laboratory applies computational and experimental methods, integrating genetics, metabolomics and other genome-wide data, to translate genetic findings into underlying biology. The lab also uses genetic data to gain insights into human evolution.
Dr. Hirschhorn received his A.B. summa cum laude in biochemistry from Harvard College and his MD and PhD in genetics from Harvard Medical School. He completed a pediatric endocrinology fellowship at Boston Children’s Hospital and postdoctoral training with Eric Lander at the Whitehead/MIT Center for Genome Research. He directs the Center for Basic and Translational Obesity Research at Boston Children’s Hospital and co-directs the Broad Metabolism Program. Dr. Hirschhorn has published over 250 papers and received multiple awards, including the Society for Pediatrics Research E. Mead Johnson Award.