Genetic Disease Research Branch
Get Email Updates
Sign up for all the latest from NHGRI.

William J. Pavan, Ph.D.

William J. Pavan
Senior Investigator
Genetic Disease Research Branch

Genomics, Development and Disease Section

Intramural Training Office

B.S. University of Massachusetts, 1985
Ph.D. Johns Hopkins School of Medicine, 1991

phone (301) 496-7584
fax (301) 402-2170
Building 49, Room 4A82
BETHESDA, MD 20892-4472

Selected Publications

2013 Pigment Cell Development Workshop

2007 Pigment Cell Development Workshop

2004 Pigment Cell Development Workshop

Greener Pastures: Exploring the Genetics of Pigmentation

Melanocyte Project

Dr. William Pavan heads the Genomics, Development and Disease Section (GDDS), which uses genomic tools and genetic manipulation of model systems to unravel genome function and to dissect gene regulatory pathways in development and disease. This section integrates data gathered from basic science research with clinical information from human patients to: 1) identify pathways that regulate development, 2) understand how alterations in these pathways lead to disease states, and 3) develop paradigms for therapeutic interventions.

The group's research efforts focus on two primary areas: the genetics of pigmentation and pigmentation-associated diseases, and the underlying genetics that affect the lysosomal storage disease Niemann-Pick disease, Type C (NPC). The GDDS has discovered critical genetic components needed for normal development and/or postnatal homeostasis in 20 mouse mutant strains, with over half of these being instructive in studying orthologous human diseases (where ortholog refers to a common genetic effect in two different species). These included discovering that mutations of the HMG-box transcription factor SOX10 result in neural crest stem cell defects in mice that accurately model enteric nervous system deficiencies of Hirschsprung (HSCR) disease and melanocyte deficiencies of Waardenburg (WS) syndrome, and discovery that the underlying molecular defect in NPC was in the protein NPC1.

Subsequently the group has used a wide variety of technologies to explore SOX10's relationship to other HSCR and WS disease genes and examine the roles of SOX10 in melanocyte stem cell biology and melanoma. The GDDS also participates in broad collaborative efforts focused on NPC, working to discover candidate therapeutic compounds via high-throughput screens, and to identify biomarkers and bioassays as well as evaluate compounds in NPC disease patients.


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, Ph.D., 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.

Scientific Summary

Top of page

Last Updated: January 6, 2015