JAX professor receives grant from National Eye Institute to study diseases of retinal pigment epithelium

The National Eye Institute has awarded Jackson Laboratory Professor Patsy Nishina, Ph.D., and Associate Professor Gregory Carter, Ph.D., a four-year grant totaling $2,414,304 to study diseases of the retinal pigment epithelium (RPE), with the goal of identifying druggable targets for age-related macular degeneration (AMD) and other heritable retinal diseases.

The RPE is a single layer of cells lining the back of the retina that is vital to the functioning of the retinal photoreceptor cells, and thus vision itself. Nishina says, "Disruption of the RPE can lead to severe vision impairment and loss. Many heritable retinal diseases, including AMD, have origins or contributions from the RPE."

AMD causes damage to the macula, a small spot in the central retina and the part of the eye needed for sharp, vision of objects in the light. According to the National Eye Institute, age-related macular degeneration affects more than 1.75 million Americans, a number that is expected to increase to almost 3 million by 2020 due to the aging of the U.S. population.

Currently there are no effective cures for AMD or the vast majority of RPE-related diseases. Previous studies have shown that mouse models of inherited RPE-driven disease often share similar disease features. By examining these models, which bear mutations in cell-adhesion and extracellular matrix molecules, and using computational tools that the Carter lab is developing, the research team hopes to discover some potential molecular pathways that could be druggable targets.

"Identifying druggable targets that participate during the pre-symptomatic stage of the disease is particularly important," Nishina says, "to enable development of therapies that can prevent, delay onset or decrease the severity of RPE-associated diseases irrespective of the initial cause of the disease."

The lab will study mouse models of inherited RPE-driven disease, collecting and analyzing extensive genetic and physiological data throughout disease progression. They will then examine other mouse models with mutations involved in cell-adhesion and extracellular matrix molecules for signs of RPE diseases. All data and mouse models from the project will be available to the research community.