HomeResearchIntramural ResearchResearch Branches at NHGRIGenetic Disease Branch Loftus Lab

Stacie Loftus, Ph.D. Associate Investigator Genetic Disease Research Branch B.S. California State University, 1990 Ph.D. University of California, 1996 (301) 594-1752 (301) 402-2170 sloftus@nhgri.nih.gov Building 49, Room 4A66 49 Convent Drive, MSC 4470 Bethesda, MD 20892-4470 Selected Publications

My research uses a functional genomics approach to explore the cellular processes of neural crest development. My work centers on understanding what factors are required for neural crest cell lineage specification, migration and proliferation during mammalian development.

During development, neural crest precursor cells migrate along defined pathways in the embryo. In the trunk, these neural crest cells differentiate into melanocytes and cells of the peripheral nervous system. In the developing cranial region, neural crest cells contribute to additional cell types, including cartilage and bone, giving rise to the upper and lower jaw and inner and outer ear. Alterations in genes important for neural crest development result in human disorders such as Waardenburg Syndrome, albinism, cleft lip and palate, and melanoma.

Three transcription factor genes, SOX10, PAX3, and MITF, are known to be important during the development of neural crest cells. When mutated, each gene gives rise to phenotypes characteristic of Waardenburg syndrome, which can include defects in melanocyte development, the peripheral nervous system and craniofacial anomalies. We are currently identifying downstream target genes for these transcription factors, using cDNA microarray expression profiling and bioinformatic analysis of gene promoter sequences. In addition, we are evaluating neural crest genes in the context of three mouse mutant strains - dominant megacolon, microphthalmia and splotch - which are models for Waardenburg Syndrome.

Top of page

Last Reviewed: October 2004