Scientists have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the eye's light-sensing retina and threatens vision.
Scientists have identified a gene responsible for some inherited retinal diseases , which are a group of disorders that damage the eye's light-sensing retina and threatens vision. Though IRDs affect more than 2 million people worldwide, each individual disease is rare, complicating efforts to identify enough people to study and conduct clinical trials to develop treatment.
"The patients in this study showed symptoms and features similar to other IRDs, but the cause of their condition was uncertain," said Bin Guan, Ph.D., chief of the Ophthalmic Genomics Laboratory at NIH's National Eye Institute and a senior author of the report."Now that we've identified the causative gene, we can study how the gene defect causes disease and, hopefully, develop treatment.
"These findings highlight the importance of providing genetic testing to our patients with retinal dystrophy, and the value of the clinic and lab working together to better understand retinal diseases," said co-senior author on the paper, Laryssa A. Huryn, M.D., an ophthalmologist at the NEI, part of the National Institutes of Health.gene, which encodes for a protein that is abundantly expressed in retina cells, including retinal pigment epithelium cells and photoreceptors.
Diseases And Conditions Gene Therapy Genes Personalized Medicine Birth Defects Medical Topics Muscular Dystrophy
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