Michael Marks
CHOP Research Institute

Tales from the Dark Side: Cellular Mechanisms Underlying Syndromic Albinism

Dr. Marks is a cell biologist who studies the molecular mechanisms underlying the formation and maturation of melanosomes, the organelles within retinal pigment epithelia and other eye pigment cells (and skin melanocytes) in which melanin pigments are synthesized and stored. Defects in these mechanisms result in various forms of oculocutaneous albinism that can be either non-syndromic (i.e. limited to pigment cells) or syndromic (i.e. affect organelle maturation in other cellular systems). Dr. Marks will outline his studies over the past 20 years studying the products of the genes that are defective in the Hermansky-Pudlak syndromes, a form of syndromic albinism that also affects the function of blood platelets, lung epithelia, and the immune system.