Building a photoreceptor: Defining RPGR's role in disc morphogenesis

Retinitis Pigmentosa (RP) is an inherited eye condition that causes death of the light-sensing photoreceptor cells at the back of the eye, causing blindness. Mutations in several genes cause RP, which has no treatment. Mutations in one particular gene, RPGR, causes 20% of all cases and results in a particularly severe form of disease. The reason no treatment exists for RPGR-related disease is that we don't know the function of RPGR in the light-sensing photoreceptor cells. Previous work by myself (and others) suggests it helps to regulate the inner skeleton of the photoreceptor cells. If we knew exactly what role it played, we might be able to design treatments for the disease. My work focuses on attempting to fully uncover RPGR's function in the photoreceptor. I hope one day this will lead to us correcting the errors that lead to photoreceptor death, thus preventing visual loss in this devastating disease.