Selected recent publications
Abreu AP*, Dauber A* et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013; 368:2467-75.
Locke AE*, Kahali B*, Berndt SI*, Justice AE*, Pers TH* et al. Genetic studies of body mass index yield new insights for obesity biology. Nature 2015; 518:197–206.
Pers TH et al. Biological interpretation of genome-wide association studies using predicted gene function. Nature Comm. 2015; 6:5890.
Marouli E*, Graff M*, Medina-Gomez C*, Lo KS*, Wood AR*, Kjaer TR*, Fine RS*, Lu Y* et al. Rare and low-frequency coding variants alter human adult height. Nature 2017; 542:186-190.
Hsu YH, et al. PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data. PLoS Comput Biol. 2019;15:e1006734.
Joel Hirschhorn, M.D., Ph.D.
Joel Hirschhorn is an institute member of the Broad Institute, and the Concordia Professor of Pediatrics and Professor of Genetics at Boston Children’s Hospital and Harvard Medical School. Together with Vamsi Mootha and Jose Florez, he directs the Broad Institute’s Metabolism Program. He has been affiliated with the Broad since its inception, and his lab works closely with collaborators at the Broad on many genetic, genomic, and computational projects.
Hirschhorn’s research focuses on using human genetics and genomics to identify genes that influence common diseases and quantitative traits, including obesity and height. He has been a thought leader in this area of genetics, helping establish standards for performing and interpreting genetic association studies. Hirschhorn was an early advocate of collaboration, meta-analysis, and stringent statistical thresholds, which were essential elements of many recent discoveries in human genetics. He continues to lead a large international consortium (GIANT) that has discovered almost all of the common genetic variants that are known to influence human height and weight. His laboratory develops and implements novel computational methods to gain biological insights from human genetic data, and also studies the genetics of diabetic kidney disease.
Hirschhorn received his A.B. summa cum laude in biochemistry from Harvard College and later earned his M.D. and Ph.D. in genetics from Harvard Medical School. As a graduate student, he employed yeast genetics to study chromatin structure and transcription with Fred Winston. He completed his postdoctoral training with Eric Lander at the Whitehead Institute/MIT Center for Genome Research, where he developed tools to interpret genetic association studies including genotyping technologies and analytic methods. He started his own laboratory at Boston Children's Hospital in 2001. In 2011, Hirschhorn was awarded the Society for Pediatric Research E. Mead Johnson Award, the most prestigious honor in pediatric research. He is an elected member of the National Academy of Medicine.