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Claussnitzer Lab

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. The Claussnitzer Laboratory specializes in converting GWAS-associated genetic risk loci for metabolic diseases and traits into functions (Variants-to-Function, V2F). GWAS dissection is a layered problem, and the Claussnitzer lab has worked towards a five-step model to address key questions for GWAS dissection applicable to any human phenotype or disease. Using both computational and experimental approaches, the framework involves (1) identifying the causal variant, (2) pinpointing which gene regulators are impacted by the variant, (3) finding the downstream target gene(s), (4) determining the relevant tissue and cell types, and (5) identifying the cellular and organismal pathways and functions altered by the variant.


Primary Investigators

Institute Member, Broad Institute
Assistant Professor and Director of the Biology of Aging Program, BIDMC and HMS