HomeResearchIntramural ResearchResearch Branches at NHGRIGenetic Disease Branch Pavan Lab

William J. Pavan, Ph.D. Senior Investigator Genetic Disease Research Branch Head Mouse Embryology Section B.S. University of Massachusetts, 1985 Ph.D. Johns Hopkins School of Medicine, 1991 (301) 496-7584 (301) 402-2170 bpavan@nhgri.nih.gov Building 49, Room 4A82 49 Convent Drive, MSC 4472 Bethesda, MD 20892-4472 Selected Publications 2004 Pigment Cell Development Workshop Melanocyte Project

My developmental genetics laboratory focuses on the mechanisms that regulate mammalian development and the alterations in these processes that result in human disease. Our research uses a combination of embryology, positional cloning, transgenesis and microarray technologies to elucidate the etiology of neural crest development and disease.

Neural crest cells originate early in vertebrate development, migrate along specific pathways throughout the developing embryo, and differentiate into a wide variety of cell types, including the pigment cells in the skin (melanocytes) and the neurons of the peripheral nervous system. By studying the neural crest as a model system, we can address several basic developmental events: the migration of embryonic cells along defined paths in the embryo; the determination of stem cells and their commitment to different lineages; and the differentiation of precursor cells into specific cell types.

Alterations in the development of the neural crest result in an array of human diseases, including piebaldism; albinism; Waardenburg syndrome; melanoma; cleft lip and palate; Hirschsprung's disease; and neuroblastoma. In the mouse, mutations in over 40 loci result in neural crest cell developmental abnormalities. Several of these mouse mutants model human neural crest-related diseases. For instance, the dominant megacolon mouse exhibits defects in the neural crest-derived melanocytes, resulting in white spotted coats, and defects in the peripheral neurons, resulting in megacolon of the digestive tract. Hirschsprung's disease, a heritable human disease, also results in megacolon, due to a deficiency of neural crest in the colon. Our current research uses several of these mouse mutants in order to identify the genes involved in neural crest development.

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Last Updated: June 2004