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In Utero ERT Webinar
Title: In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases
Summary: Dr. Cohen will provide an overview of the importance of early treatment in lysosomal storage diseases, the principles, and methods behind in utero therapy, and will present data from the first patient with infantile onset Pompe disease treated with in utero enzyme replacement therapy.

Bio: Jennifer L. Cohen, MD is an Assistant Professor of Pediatrics in the Division of Medical Genetics at Duke University. 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.

Note: The webinar cannot be recorded since the research data in unpublished, Jennifer's collaborators have requested that it not be recorded.

Sep 16, 2022 01:00 PM in Central Time (US and Canada)

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Speakers

Jennifer L. Cohen, MD
Assistant Professor of Pediatrics in the Division of Medical Genetics @Duke University
Jennifer L. Cohen, MD is an Assistant Professor of Pediatrics in the Division of Medical Genetics at Duke University. 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.