Jennifer Cohen, MD

Dr. Jennifer L. Cohen is an Associate Professor of Pediatrics in the Division of Medical Genetics at Duke University. Her research program focuses on advancing early identification and treatment of genetic diseases through genomic epidemiology, precision medicine, and translational therapeutics. Her work spans from population-level interventions (newborn screening implementation) to cutting-edge therapeutic development (in utero enzyme replacement therapy and gene therapy clinical trials). Dr. Cohen’s research is hypothesis-driven, centered on the premise that earlier genetic diagnosis and treatment will improve outcomes for children with genetic diseases. Her landmark work includes publication of the first successful in utero enzyme replacement therapy for infantile Pompe disease (New England Journal of Medicine), implementation of rapid genome sequencing in critically ill neonates, and publication of a treatable fetal findings gene list.