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Nancy Spinner, PhD

Director, Clinical CytoGenomics Laboratory

Professor of Pathology and Genetics, Perelman School of Medicine at the University of Pennsylvania

Dr. Spinner's interests are in identifying and understanding genes that contribute to congenital disease. A primary focus of her lab has been to understand the etiology of Alagille syndrome, which affects the liver heart, skeleton, eye face, vasculature and kidney. Her research team identified Jagged1 mutations as the cause of this disorder in 1997. Since then the team has been working to improve diagnostics, define the clinical variability and identify factors that contribute to this variability, and understand how the mutations cause clinical features of this disorder.

Jagged1 mutations have also been implicated in the etiology of biliary atresia and isolated cardiac defects, and Dr. Spinner is now studying how mutations in one gene can cause these varied phenotypes. Jagged1 is a member of the notch signaling pathway, and Dr. Spinner is investigating the role of other genes in this pathway in causing human disease.

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