Overview
Jennifer Cohen, MD is an Assistant Professor of Pediatrics in the Division of Medical Genetics. 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 actively involved in the Pompe disease gene therapy trials at Duke. Her long-time research interests and training have led her to pursue the study of in utero treatment for lysosomal storage diseases and to pursue implementation of more rapid and comprehensive neonatal diagnostic testing in critically ill infants.
Current Appointments & Affiliations
Recent Publications
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Journal Article NPJ Genom Med · March 1, 2024 CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous ... Full text Link to item CiteIntrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
Journal Article Prenat Diagn · December 2023 Lysosomal storage disorders (LSDs) are a group of monogenic condition, with many characterized by an enzyme deficiency leading to the accumulation of an undegraded substrate within the lysosomes. For those LSDs, postnatal enzyme replacement therapy (ERT) r ... Full text Link to item CiteNovel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Journal Article Am J Med Genet A · November 2023 Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abn ... Full text Link to item CiteRecent Grants
Developing strategies to identify candidate individuals for early genetic therapies
ResearchPrincipal Investigator · Awarded by National Institutes of Health · 2024 - 2029Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases
ResearchPrincipal Investigator · Awarded by University of California - San Francisco · 2022 - 2026An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients with Peripheral Manifestations of Gaucher Disease
Clinical TrialPrincipal Investigator · Awarded by Lilly USA, LLC · 2023 - 2025View All Grants