Joel Hirschhorn
Department of Genetics
Children's Hospital
Enders 561
300 Longwood Avenue
Boston, MA 02115
Tel: (617) 919-2129
Email: joelh@broadinstitute.org
Web Page: The Hirschhorn Lab Page
In people, most common diseases and quantitative phenotypes are polygenic traits, influenced by multiple genetic and environmental factors. Our laboratory’s long-term goal is to understand the genetic basis of human complex traits and common diseases, particularly obesity and height. We study obesity because it is a heritable and readily measured risk factor for a number of serious diseases including diabetes; we study stature because of its relevance to human growth and development, and also because it is a classic polygenic trait. We also are interested in how genetic ancestry and human evolutionary history can influence genetic studies of polygenic traits. We collaborate closely with groups at the Broad Institute in each of these areas. Althoguh our main focus on obesity and height, although the lab also has projects related to other diseases (asthma) and traits (timing of puberty).
Recently, the main focus in the lab has been to use genome-wide association data at hundreds of thousands of variants across the genome to identify new loci associated with obesity and height. We have successfully identified novel associations between common genetic variants and both height and obesity. We plan to continue to search for new loci that influence obesity and height, and also to characterize further the loci we have helped to discover. We plan to use next generation sequencing technology to more fully characterize the effects of common and rare variants at these loci. We will also use expression data and other functional approaches to understand better the effects of associated variants at these loci.
References:
- Lohmueller, KE, Pearce, CL, Pike, M, Lander, ES, and Hirschhorn, JN (2003). Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genet. 33:177-82.
- Hirschhorn JN, Daly MJ (2005). Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet. 6:95-108.
- Campbell, CD, Ogburn, EO, Lunetta, KL, Lyon, HN, Freedman, ML, Groop, LC, Altshuler, D, Ardlie, KG and Hirschhorn, JN (2005). Demonstrating stratification in a European-American population. Nature Genet. 37:868-72.
- Lettre G et al. (2008). Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genet. 40:584-91.
- Willer, Speliotes, Loos, Li et al. (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genet. 41:25-34.
BBS webpage updated 12/02/2009