Loftus Group

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Stacie Loftus, Ph.D.

Stacie Loftus
Associate Investigator
Genetic Disease Research Branch

B.S. California State University, 1990
Ph.D. University of California, Irvine, 1996

phone (301) 594-1752
fax (301) 402-2170
Building 49, Room 4A51
BETHESDA, MD 20892-4472

Selected Publications

Dr. Stacie Loftus is a member of the Genomics, Development and Disease Section and investigates how gene expression changes affect the function and survival of melanocyte cells. Melanocytes are cells that produce the melanin pigment visible in skin and hair coloration. In humans, these cells function to protect skin from damaging environmental stresses such as ultraviolet radiation exposure.

Melanocytes also can acquire DNA mutations during an individual's lifetime that give rise to melanoma, a highly lethal skin cancer with increasing incidence. Over 50 human genomic loci are associated with either pigmentation phenotypes or melanoma susceptibility. The majority of these loci correlate with non-coding genomic regions, underscoring that differences in DNA sequences located within melanocyte gene regulatory elements significantly contribute to melanocyte biology and disease. These alterations in non-coding DNA sequence can affect normal gene function, in addition to how much, when and where in the organism a melanocyte cell decides a gene product should be produced.

Dr. Loftus' research seeks to identify regulatory, non-coding DNA regions that control melanocyte gene expression. The laboratory utilizes whole genome-based sequencing technologies to identify interactions between regulatory proteins (transcription factors) and these DNA regions. They also investigate how these interactions change in melanocytes depending on a combination of factors, including an individual's unique DNA sequence, DNA mutations that arise in a cell over time or due to environmental exposure, and the signals that are present in a cell's surrounding micro-environment. This integrated approach is revealing how altered melanocyte gene expression contributes to melanoma disease progression and also is identifying relevant targets for therapeutic interventions.


Dr. Stacie Loftus received her B.S. in biochemistry from California State University, Long Beach, and her Ph.D. in biological chemistry from the University of California, Irvine School of Medicine.  As a graduate student in the laboratory of Dr. John Wasmuth, her dissertation detailed the identification of the gene responsible for the neural crest disorder, Treacher Collins syndrome.

Dr. Loftus came to the NIH as a postdoctoral fellow in 1996, to the National Center for Human Genome Research (NCHGR) to work as part of a collaborative team with laboratories in both NCHGR and NINDS that was focused on cloning the gene responsible for the neurodegenerative disorder Niemann-Pick disease, type C (NPC). NCHGR is now the National Human Genome Research Institute (NHGRI).

Following successful identification of the NPC1 gene, Dr. Loftus's postdoctoral work continued in the laboratory of William Pavan, Ph.D., where she integrated mouse developmental biology, gene expression profiling and genomics technologies in her work on melanocyte cell function and survival. In 2001, Dr. Loftus became an NHGRI associate investigator, where she is currently a member of the Genomics Development and Disease Section.

Her current research is focused on discovering how normal and disease melanocyte cell states establish distinct regulatory DNA landscapes, and also determining how the combination of both genetic variation within these regulatory regions and environmental cell signals alter gene expression and normal cell function.

Scientific Summary

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Last Updated: January 6, 2015