The $249,000 federal Project Grant award from the National Institute of Child Health and Human Development (NICHD), under CFDA Program 93.865 Child Health and Human Development Extramural Research, aims to identify novel noncoding mechanisms of disease associated with developmental disorders. The award supports research led by Dr. Chelsea Lowther at the Icahn School of Medicine at Mount Sinai to: (1) define candidate long-range positional effect loci and develop models to predict the pathogenicity of noncoding structural variants; (2) determine the impact of topologically associated domain disruption on gene expression; and (3) elucidate the diagnostic value of identifying pathogenic long-range positional effects in developmental disorders. This project will expand Dr. Lowther's expertise in advanced statistical modeling and functional genomics, supported by a mentorship team of leaders in computational, statistical, and functional genomics. The research outcomes seek to enhance understanding of how disruption of three-dimensional genome organization can contribute to the genetic architecture of developmental disorders.
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