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Researcher | Research Overview

Our laboratory's long-term goal is to understand the genetic basis of human height and weight, as well as other polygenic traits and diseases. Most common human diseases and quantitative phenotypes (such as height and weight) are polygenic traits, influenced by multiple genetic and environmental factors. Our goals are to identify genetic factors influencing height, weight, and other polygenic traits, and to use these genetic discoveries to uncover novel human biology relevant to obesity and growth. 

We are also interested in how our understanding of human population genetics can inform genetic association studies, and vice versa. We study body mass index and other anthropometric measures of obesity because these are heritable, readily measured polygenic risk factors for a number of serious diseases, including diabetes and cancer. We study height, a classic polygenic trait, because of its relevance to human growth and development, and because it is the classical model for human polygenic traits. 

 Our lab also has projects related to other diseases, such as asthma and diabetic kidney disease, and quantitative traits, such as hemoglobin F levels (which modify the severity of sickle cell disease). We also embark on computational projects related to polygenic traits and population genetics. Our lab collaborates with the Broad Institute in many of these areas. Recently, our main focus has been to use genome-wide association data at millions of variants across the genome to identify new loci associated with obesity and height. We have successfully identified many novel associations between common genetic variants and both height and obesity. 

We plan to search for additional loci and to characterize further the loci we have helped to discover using genetic, computational and functional approaches. We are using next-generation sequencing technology to more fully characterize the effects of common and rare variants at these loci. To read more about our work, visit our lab website. 

Researcher | Research Background

Joel Hirschhorn is the Concordia Professor of Pediatrics and a Professor of Genetics at Harvard Medical School and Children's Hospital, Boston, where he directs the Center for Basic and Translational Obesity Research. He is also a Senior Associate Member and co-Director of the Metabolism Initiative at the Broad Institute. 

He received his AB summa cum laude in Biochemistry from Harvard College and his MD and PhD in genetics from Harvard Medical School. He subsequently completed an internship and residency in pediatrics, and a fellowship in endocrinology at Children's Hospital Boston. As a postdoctoral fellow with Eric Lander at the Whitehead Institute/MIT Center for Genome Research, he developed and implemented tools and methods to perform and interpret genetic association studies including genotyping technologies and analytic methods. 

He started his own laboratory at Children's Hospital Boston in 2001. In 2011, Dr. Hirschhorn was awarded the American Pediatric Society’s Norman J. Siegel New Member Outstanding Science Award and the Society for Pediatrics Research E. Mead Johnson Award.

Researcher | Publications