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Soumya Raychaudhuri, MD, PhD; Richard Sherwood, PhD; and Shamil Sunyaev, PhD, of the Department of Medicine, were awarded funding through the Impact of Genomic Variation on Function (IGVF) Consortium, which is supported by the National Human Genome Research Institute within the National Institutes of Health. This project brings groups with international reputations in functional genomics, genetics, and model systems together to discern the effects of human genetic variation on molecular function and disease. This funding supports Raychaudhuri and Sunyaev’s research focused on predicting the impact of genetic variants, genes and pathways on human disease, and Sherwood’s research aimed at comprehensively characterizing variants underlying heart and blood diseases using CRISPR-mediated base editing.
More broadly, Raychaudhuri has contributed to the understanding of the genetic basis of rheumatoid arthritis and other immune-mediated diseases, and in defining the effect of variant functions on T cells. Sunyaev has researched genetic variation, including the effects of mutations and allelic variants, as well as the relationship between genotype and phenotype. Sherwood’s lab aims to predict how changes in genomic sequences alter genotypes and phenotypes and how to alter genomic function to ameliorate complex disease phenotypes.
The IGVF Consortium provides funding to scientists who are developing a framework for understating how genomic variants affect genome function and how these effects shape phenotypes. All three of these scientists are collaborating with colleagues from different institutions, including Massachusetts General Hospital, Harvard School of Public Health, Broad Institute, and Massachusetts Institute of Technology to utilize emerging experimental and computational genomic approaches to build a catalog of the impact of genomic variants on genome function and expression.
