GWAS of metabolic diseases and traits in humans have identified hundreds of associations with specific genomic loci. The vast majority of these loci are noncoding, and they presumably influence disease risk by altering functional properties of gene regulatory elements and thereby affecting gene expression, which eventually manifests in cellular and organismal phenotypes relevant to the studied disease. However, discovering the biological processes influenced by these loci remains a major challenge.
Institute Member, Broad Institute
Assistant Professor and Director of the Biology of Aging Program, BIDMC and HMS