Joel Hirschhorn, MD, PhD

Dr. Hirschhorn is the Chief of Endocrinology and 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, hypermobile Ehlers Danlos syndrome, sickle cell disease, and disorders of sex development. In addition to using human genetics, the laboratory develops and applies computational and experimental methods, integrating genetics, metabolomics and other genome-wide data. The goals are to translate genetic findings into underlying biology and to provide actionable insights to guide therapeutics and preventive measures. The lab also uses genetic data to gain insights into human evolution. He continues to see patients, doing inpatient and outpatient clinical work in pediatric endocrinology.

Dr. Hirschhorn received his A.B. summa cum laude in biochemistry from Harvard College in 1986 and his MD-PhD (in genetics, with Fred Winston) from Harvard Medical School in 1995. 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. Dr. Hirschhorn has received multiple awards, including the Society for Pediatric Research E. Mead Johnson Award, recently served as the President of the Society for Pediatric Research, and is a member of the National Academy of Medicine.