Dr. Nancy Spinner

Biography

Nancy B. Spinner, Ph.D., is a Professor in the Department of Pathology and Laboratory Medicine at the Perelman School of Medicine, University of Pennsylvania. Her research primarily focuses on human genetics, particularly in understanding congenital diseases such as Alagille syndrome and Biliary Atresia. Dr. Spinner's lab investigates the genetic factors that contribute to these diseases, employing techniques such as genome-wide association studies (GWAS), next-generation sequencing, and bioinformatics. She has a longstanding interest in the Notch signaling pathway and its implications in human disease, particularly how mutations in this pathway can affect clinical outcomes. In her current research, she aims to identify genetic modifiers of clinical variation in affected patients and collaborates with colleagues on projects testing applications of whole exome sequencing in pediatric disorders. Dr. Spinner has published extensively on these topics and is committed to advancing the understanding of the molecular basis of congenital diseases.

Research Interests