A strategy for identifying loss of function mutations that slow photoreceptor degeneration in vivo
Associate Professor of Genetics
Mendelian forms of photoreceptor degeneration arise from mutation of any one of hundreds of different genes. We hypothesize that these diverse proximate causes converge on a limited number of deleterious cellular pathways. If so, interdicting one or more of these pathways could provide a more general approach to slowing photoreceptor degeneration, as compared to therapies aimed at replacement of individual defective genes. We have devised a strategy to identify loss of function mutations that slow photoreceptor degeneration in a mouse model of retinitis pigmentosa. We will report our progress toward achieving the goal of performing a global screen in live mice.