Researchers Find Potential New Gene Therapy for Blinding Disease (National Institutes of Health)

UF researchers Dr. Alfred Lewin and Dr. William Hauswirth, in collaboration with UPenn researchers, reported a gene therapy that may slow or prevent vision loss in people with a genetic blinding condition called autosomal dominant retinitis pigmentosa (AdRP).

Scientists funded by the National Eye Institute (NEI) report a novel gene therapy that halts vision loss in a canine model of a blinding condition called autosomal dominant retinitis pigmentosa (adRP). The strategy could one day be used to slow or prevent vision loss in people with the disease. NEI is part of the National Institutes of Health.

“We’ve developed and shown proof-of-concept for a gene therapy for one of the most common forms of retinitis pigmentosa,” said William Beltran, D.V.M., Ph.D., of the University of Pennsylvania School of Veterinary Medicine, Philadelphia, a lead author of the study, which appears online today in the Proceedings of the National Academy of Sciences.

Retinitis pigmentosa refers to a group of rare genetic disorders that damage light-sensing cells in the retina known as photoreceptors. Rod photoreceptor cells enable vision in low light and require a protein called rhodopsin for their light-sensing ability. People with adRP caused by mutations in the rhodopsin gene usually have one good copy of the gene and a second, mutated copy that codes for an abnormal rhodopsin protein. The abnormal rhodopsin is often toxic, slowly killing the rod cells. As the photoreceptors die, vision deteriorates over years or decades. Scientists have identified more than 150 rhodopsin mutations that cause adRP, challenging efforts to develop effective therapies.

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