Member of the TAC; Boston Childrenâ€™s Hospital/Broad Institute, Endocrinology
Joel Hirschhorn is a human geneticist and, as of 7/2018, Division Chief of Endocrinology at BCH. Â He has extensiveÂ experience in performing human genetic and computational studies. His group uses genetics to identify and understand the causal biology of polygenic diseases and traits. His main areas of focus relate toÂ endocrinology, including two major unmet medical needs (obesity and diabetic kidney disease) and height, which is the classical model polygenic trait and has provided invaluable generalÂ insights into the genetics of human disease. He has developed and implemented novel methods to gain insights into normal and disease biology and into recent human evolution. Â He was an early leader in shaping the design of GWAS, showing that meta-analysis of genetic association studiesÂ with stringent statistical thresholds would be a successful route to robust genetic associations. He organized and continues to lead the GIANT consortium, which has discovered nearly allÂ of the common variants known to be associated with measures of obesity and height and is assembling genetic results from millions of individuals. His lab developed powerful new computational methods to identify causal genes and biological mechanismsÂ from GWAS results.Â His lab is using functional data, including single cell expression data, to generate and test biological hypotheses about the function of genes emerging from genetic studies. His group has also combined diverse data sets and approaches, including population genetics, to gain novel insights into human evolution and the geneticÂ architecture of human biology. Â He is now performing genetic studies of rarer variation in large populations and individual families, including analysis of whole exome and genome sequencing data. His lab has discovered and characterized pathogenic genes and variants that are responsible for single gene disorders related to pediatric endocrine phenotypes,Â including syndromic short stature and precocious puberty.