Jennifer L. Cohen

Jennifer L. Cohen, MD is an Associate Professor of Pediatrics in the Division of Medical Genetics. She has secondary appointments in Obstetrics and Gynecology and Molecular Genetics & Microbiology. She attended Yale College and then received her MD from the Icahn School of Medicine at Mount Sinai in NYC. She completed a combined residency program at the Children’s Hospital of Philadelphia in Pediatrics and Medical Genetics, before joining the faculty at Duke in 2019. Her research interests and expertise are in perinatal genetic medicine with a current focus on earlier diagnosis and management of rare genetic diseases. She is the physician lead for Pompe disease newborn screening in North Carolina and is actively involved in gene therapy clinical trials for lysosomal storage diseases. Dr. Cohen leads the Duke site for a clinical trial of prenatal enzyme replacement therapy for lysosomal storage diseases. Her long-time research interests and training have led her to pursue the study of in utero treatment for genetic diseases and to advance implementation of more rapid and comprehensive diagnostic testing in fetuses and critically ill infants.