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Posts tagged gene

Foundation Invests $2.5 Million in Search for Elusive Retinal Disease Genes and Mutations

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Since the identification in 1989 of the first gene associated with an inherited retinal disease (IRD) – that gene was RHO, which when mutated, is a frequent cause of retinitis pigmentosa (RP) – genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.

The cumulative breakthroughs in IRD gene discovery over the past three decades are indeed impressive. It means that, today, about 65-70 percent of IRD patients will have their mutated gene identified when getting tested. However, it also means that the gene mutations for about one-third of patients are still not identified.
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Fighting Blindness Gets Sheepish

A sheep in tall grass.We all know from the nursery rhyme “Mary Had a Little Lamb” that “everywhere that Mary went, the lamb was sure to go.” But what if the lamb had a vision-robbing retinal disease, making it challenging to find Mary prancing around a sunlit meadow, or catching some rays on the Jersey Shore?
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