Jennifer L. Cohen

Jennifer L. Cohen, MD is an Associate Professor of Pediatrics and Molecular Genetics and Microbiology at Duke University School of Medicine, specializing in perinatal genetic medicine within the Division of Medical Genetics. Her expertise focuses on early diagnosis and management of rare genetic diseases, particularly lysosomal storage disorders.

Her educational background includes:

• MD from Icahn School of Medicine at Mount Sinai (2015)
• Combined Residency in Pediatrics and Medical Genetics at Children's Hospital of Philadelphia (2015-2019)

Dr. Cohen's research centers on implementing in utero treatments for lysosomal storage diseases and rapid genomic diagnostics for critically ill neonates. She actively develops clinical frameworks for treatable fetal findings and translational gene therapies, bridging laboratory science with bedside care to improve outcomes for infants with rare genetic conditions.

Analysis of her recent publications (2023-2025) reveals a dominant focus on fetal/neonatal genetic interventions, with recurring themes in lysosomal storage disease therapeutics, cortical malformation diagnostics, and precision prenatal care. Her work consistently emphasizes multidisciplinary collaboration across genetics, neurology, and obstetrics to advance treatable conditions in utero.

Dr. Cohen directs multiple high-impact research initiatives including NIH-funded development of early genetic therapy candidate identification (2024-2029), Lilly-sponsored Gaucher disease enzyme replacement trials (2023-2026), and UCSF-supported in utero therapy studies for lysosomal disorders (2022-2026). She leads Duke's Pompe disease gene therapy program and contributes to national efforts through ClinGen Variant Curation and NORD Center of Excellence working groups.