Ciliopathies and Photoreceptor Function

West Virginia University, Morgantown WV

Investigators

Linked publications & trials

Abstract

PROJECT SUMMARY/ABSTRACT The long term goals of our research are to identify the need for Bardet-Biedl Syndrome (BBS) proteins in photoreceptor cells. The goal of this proposal is to explore the role for BBS8 in photoreceptors using unique animal models. Our study will focus on the need for BBS in photoreceptor survival and test if BBS is actively needed for the maintenance of photoreceptor function. Our proposed studies are aligned with the Retinal Diseases Program of the NEI to: 1) identify the genes involved in both inherited and retinal degenerative diseases (including RP), 2) determine the pathophysiological mechanisms underlying these mutations, and 3) determine new potential therapeutic strategies for treatment such as gene transfer, tissue and cell transplantation, growth factor therapy, and pharmacological intervention. Our proposed studies have clinical implications, as gene therapy for BBS is partially effective, and a better understanding of the requirement for BBS in photoreceptor function is needed to move this field forward.