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
We are also interested in how our understanding of human
population genetics can inform genetic association studies, and vice
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
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
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.
About Joel Hirschhorn
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.