A strategy for identifying loss of function mutations that slow photoreceptor degeneration in vivo - Douglas Vollrath

A strategy for identifying loss of function mutations that slow photoreceptor degeneration in vivo

Douglas Vollrath

Associate Professor of Genetics

2015 Seed Grant: In vivo selection for gene mutations that counteract photoreceptor degeneration

Lead Researchers: Douglas Vollrath, Michael Bassik, Monte Winslow

Abstract

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.