Marina DiStefano, PhD, FACMG

Marina DiStefano is the Director of Clinical Genomic Operations at Broad Clinical Labs. A board-certified Clinical Molecular Geneticist with a Ph. D. from UMass Chan Medical School and a fellowship at Harvard Medical School, she is an expert in gene and variant curation, exome/genome analysis, and population screening programs.

Outside of her core responsibilities, she contributes to the broader scientific community. She recently completed a three-year term on the American Society of Human Genetics (ASHG) program committee, which is responsible for the scientific content of the societys annual meeting, and actively presents educational workshops at conferences.

She directs the ClinGen Broad Biocuration Core, where she manages a team of nine and provides expert framework support to 15 different gene and variant curation expert panels.