Photograph of Richard Spritz, MD

Richard Spritz, MD
Professor and Director, Human Medical Genetics and Genomics Program
University of Colorado School of Medicine

Research Presentation: “The Genetics of Vitiligo”
Monday March 20, 2017

Clinical Presentation: “Genetic Disorders of Pigmentation”
Tuesday, March 21, 2017

Speaker Bio

For three decades, principal efforts of the Spritz laboratory have been aimed towards identifying genes responsible for disorders of the skin, particularly pigmentation. These disorders have included albinism, piebaldism, Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and many others. For almost 20 years, we have focused on characterizing and discovering genes that underlie vitiligo, a common, complex autoimmune disease. Vitiligo is associated with a number of other autoimmune diseases, involving shared genetic underpinnings. After early candidate gene association studies and subsequent genetic linkage studies, major success has come from a number of genomewide association studies (GWAS) carried out in European-derived white, Indian-Pakistani, and Japanese vitiligo patients. To date, we have identified over 50 vitiligo susceptibility loci; for most we have identified the corresponding genes and key causal genetic variations, and we have carried out functional analyses to define the pathobiological mechanisms. The identified vitiligo genes encode a complex network of immunoregulatory proteins, apoptotic regulators, and melanocyte components that likely mediate both autoimmune triggering and targeting of melanocytes. These biological pathways provide a framework for understanding vitiligo pathobiology and offer important new drug targets for vitiligo treatment and prevention in genetically susceptible individuals.

Image and bio courtesy of Richard Spritz, MD

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