Researchers in the Department of Ophthalmology and Visual Sciences at the University of Iowa Roy J. and Lucille A. Carver College of Medicine have received a five-year, $1.6 million grant from the Foundation Fighting Blindness.
The funding will support the Research Center for the Study of Retinal Degeneration, which is part of the UI Institute for Vision Research. Edwin Stone, MD, PhD, the Seamans-Hauser Chair in Molecular Ophthalmology, director of the UI Institute for Vision Research and a Howard Hughes Medical Institute investigator, is the principal investigator for the grant.
Stone and colleagues will focus on identifying new causes of inherited retinal disease and exploring the mechanism and course of the diseases.
"In order to develop a new treatment, and prove that it works, we need to understand the cause of the disease, as well as its behavior over time, at the molecular, cell, tissue, animal and human levels," Stone explained. "This funding from the Foundation Fighting Blindness will allow us to vigorously pursue our overall mission of finding cures for blindness through basic and clinical research."
Stone will lead researchers seeking to identify new genes involved in inherited eye diseases. Using a variety of DNA genotyping technologies, the team will look for new photoreceptor degeneration associated genes. This type of cell damage occurs in eye conditions ranging from the most common human retinal disease -- age-related macular degeneration (AMD) -- to extremely rare conditions that affect only a few thousand people worldwide, such as Leber Congenital Amaurosis.
Budd Tucker, PhD, UI assistant professor of ophthalmology and visual sciences, will lead a team focused on the use of induced pluripotent stem cells to model and treat inherited retinal disease. Induced pluripotent stem cells (iPSC) are stem cells generated from a patient's own cells (usually skin cells). These immature cells can be coaxed to develop into retinal tissue allowing researchers to examine at a molecular and cellular level how a patient's genetic mutation affect the retina.
Stephen Russell, MD, UI professor of ophthalmology and visual sciences who holds the Dina J. Schrage Professorship in Macular Degeneration Research, will lead a group analyzing the eyes of patients with AMD, matching physical and functional features of the eyes with genetic patterns obtained from the patients' DNA. The research aims to identify areas of the genome that may hold specific genes that cause AMD or influence the severity of the disease.
"We anticipate that the interdisciplinary, translational studies funded by this grant will continue to advance our understanding and treatments of both common and rare retinal diseases," Stone said.