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6.24.2014

Bascom Palmer Eye Institute Researchers Receive $2.82 Million to Study Blinding Disease

Physician-scientists at Bascom Palmer Eye Institute at the University of Miami Miller School of Medicine have received a five-year $2.82 million grant from the National Eye Institute of the National Institutes of Health to study retinitis pigmentosa (RP). RP is a group of inherited eye diseases that cause progressive vision loss and blindness due to degeneration of the retina, the layer of light-sensitive tissue at the back of the eye. It affects about 1 in 4,000 people in the United States.

Rong Wen, M.D., Ph.D., and Byron Lam, M.D., professors of ophthalmology at Bascom Palmer, in collaboration with biochemist Ziqiang Guan, Ph.D., a research associate professor at Duke University Medical School, received the grant to specifically study DHDDS (dehydrodolichyl diphosphate synthase)-associated retinitis pigmentosa.

These investigators have focused their research on this disease for the past three years. The team identified a key marker in blood and urine that can identify people who carry genetic mutations responsible for RP. A simple diagnostic test using these markers will help in developing treatments for RP caused by DHDDS mutations.

”With this grant, our team of investigators will accelerate the work to gain a better insight into the disease mechanism, which should pave the way for the development of specific treatments,” says Wen.

The first mutation in the DHDDS gene was identified in patients with retinitis pigmentosa in 2011 by scientists at the Miller School, including Wen and Lam from Bascom Palmer Eye Institute; Drs. Stephan Zuchner and Margaret A. Pericak-Vance of the John P. Hussman Institute for Human Genomics; and Dr. Julia Dallman of the Department of Biology.

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