The overall goal of our research program is to understand the molecular mechanisms that control skin and hair morphogenesis and differentiation by studying the manner in which these processes are perturbed in human skin diseases. My lab utilizes a classical genetic approach to the study of inherited skin and hair disorders in humans and mice, by identifying disease phenotypes and the corresponding defective proteins that characterize the disease. Our work generally begins by selecting a disorder of interest, followed by gene discovery, and finally functional studies relating novel proteins to basic questions in epidermal and developmental biology, such as cell-cell adhesion, basement membrane zone biology, epidermal differentiation and keratinization, hair follicle morphogenesis and cycling, and most recently, skin immunobiology.
Our most recent work is focused on defining the genetic basis of polygenic disorders, such as alopecia areata, using genomewide approaches. Our philosophy revolves around the hypothesis that the elucidation of the gene responsible for a disease phenotype is a key initial step in understanding disease pathogenesis and eventually in the development of novel genetic and/or cellular therapies for skin and hair diseases. This strategy has been successfully applied to alopecia areata in our group over the past several years, yielding transformative progress in the field. The Aim of this P50 grant entitled Alopecia Areata Center of Research Translation (AACORT) grant is to leverage our recent findings on the genetic basis of alopecia areata, preclinical studies in animal models, and innovative clinical trials into a comprehensive translational research center in AA that will lead to new treatments for patients with a vast unmet need.