Grant: Operating Grant

Retinitis pigmentosa (RP) is an inherited disorder in which the light detecting cells of the retina progressively die. Eventually, people with RP may become completely blind. A key challenge to tackling RP is the diversity of genetic changes that are linked to the disease. Unlike other inherited disorders which are often caused by a single genetic change, RP can result from any one of hundreds of different mutations in several different genes. Does this mean RP is really a hundred different diseases, just one, or several? More specifically, do we need a hundred different treatments for these patients, just one, or several? To answer these questions, we will characterize several strategically chosen genetic mutations that cause different types of retinitis pigmentosa, in order to clarify the mechanisms of disease. These studies will provide valuable information about the progress of retinal degeneration, and help us to better understand how we might design treatments for this disease.