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Posts tagged Stephen Daiger

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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Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance

Stephen Daiger, Ph.D. and colleague Lori Sullivan, Ph.D.Inherited retinal diseases are difficult to understand merely because they’re so rare and diverse. More than 250 genes, when mutated, can cause them, yet collectively, they affect only 200,000 people in the United States.

Their widely varying impact on vision adds to the challenge. For example, the youngest sibling in a family may be nearly blind from retinitis pigmentosa (RP), while his or her older brother or sister with the same RP gene mutation can have near normal vision.

But as FFB-funded retinal geneticist Stephen Daiger, Ph.D., discussed at the RD2016 meeting in Kyoto, Japan, the complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging. Dr. Daiger was one of nearly 300 retinal researchers who gathered September 19-24, 2016, for the world’s largest conference focused exclusively on retinal degenerative diseases. The conference was supported in-part by FFB.
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