Stacie Loftus Email & Phone Number

My current research is focused on understanding how DNA alterations in the human genome impact underlying cellular processes of melanocyte cell lineage. Melanocyte cells are specialized cells that produce melanin pigment. The melanin pigment produced by melanocytes results in the variation in hair color, skin color and pigmentation pattern observed across evolutionarily diverse animal species. In humans, melanocytes function to protect skin from damaging environmental stresses such as ultraviolet radiation exposure (UVR). Melanocytes also can acquire somatic DNA mutations during an individual's lifetime that give rise to melanoma, a highly lethal skin cancer with increasing incidence. My research integrates the identification of epigenetic modifications that mark the melanocyte regulatory genomic landscape with regulatory protein and transcription factor chromatin-binding domains, thus defining groups of non-coding DNA sequences utilized in the control of melanocyte gene expression. This work has led to a more comprehensive understanding of normal in skin pigmentation variation across diverse populations, and to the identification of a hallmark gene expression signatures of metastatic melanoma under reduced oxygen concentrations (hypoxia) correlated with clinical disease progression. My current research focuses on identifying missing genetic heritability observed in Oculocutaneous Albinism (OCA), a recessive disorder characterized by loss or reduction of pigmentation in the skin, hair and eyes. OCA individuals are at higher risk for UV-induced skin cancers and vision related defects, including chiasm misrouting of their optical tracts, foveal hypoplasia, reduced pigmentation of the retinal pigmented epithelium and iris and reduced visual acuity. Ultimately, increasing our knowledge of how gene expression is regulated will contribute to our ability to predict both an individual's inherent disease risks and their potential to respond to therapeutic interventions when diseases arise.