William Pavan

Background

About William Pavan

Dr. William Pavan received his B.S. in Animal Science from the University of Massachusetts, Amherst and his Ph.D. in Physiology from the Johns Hopkins School of Medicine, Baltimore. He completed his post-doctoral fellowship in the laboratory of Shirley Tilghman at Princeton University in which he studied the developmental genetics of mouse coat color pigmentation. Subsequently, Dr. Pavan joined NHGRI in 1994, when he began a research program focused on using genomic tools and genetic manipulation of model systems to decipher genome function and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the development and diseases of melanocytes, the cells responsible for pigmentation of skin and hair, and the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science research with clinical information from human patients, Dr. Pavan works to identify developmental pathways that regulate development, discover the alterations in these pathways that lead to disease, and develop paradigms for therapeutic interventions. Dr. Pavan’s group first discovered the neural crest cell transcription factor SOX10, which is associated with Waardenburg Syndrome IV and with human melanoma, and also identified the lysosomal transmembrane protein, NPC1, whose mutation results in Niemann-Pick disease, type C1. Alongside directing his group’s research, Dr. Pavan serves as the Director of the NHGRI Intramural Training Office (ITO), where he oversees the career development of approximately 150 postdoctoral fellows, graduate students and pre-doctoral fellows as well as 40 summer students. In this capacity, he affords trainees numerous avenues for career development and enhancement, providing the support and guidance necessary to create high quality scientific leaders for the future.