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Posts tagged DNA

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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FFB Funding Helps Retinal Genetics Lab Secure $2 Million Investment

This is a great story of how the Foundation Fighting Blindness (FFB) provided timely funding of $155,000 to help my lab at the University of California, San Diego (UCSD), leverage a $2 million retinal-gene discovery project.

What is very rewarding for me is that FFB’s support helped us find the retinal-disease gene mutation in 33 families, who were otherwise left without a clear diagnosis. Now these families are better able to understand their prognosis and which clinical trials and future therapies may be most relevant to them.
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First Patient Treated in XLRP Gene Therapy Clinical Trial

The surgical team prepares to inject the virus into the back of the eye of the patient A 29-year-old British man is the first person to be treated in a gene therapy clinical trial for X-linked retinitis pigmentosa (XLRP). Robert MacLaren, MD, the lead investigator for the trial taking place at the Oxford Eye Hospital in the United Kingdom, says the patient is doing well and has gone home. The trial is being run by Nightstar, a biopharmaceutical company in the U.K. developing therapies for inherited retinal diseases. As many as 24 patients will be enrolled in the 12-month trial.

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ARVO 2015 Highlight: A Cut-and-Paste Approach to Fixing Retinal-Disease Genes

gene editingI just returned from the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO), the world’s largest eye-research conference, held this year in Denver. It attracted more than 11,000 scientists and physicians, including many of the 187 retinal researchers funded by the Foundation. The FFB science team and I worked feverishly to learn as much as possible about the latest news from the retinal-research front. It was truly exhilarating—albeit, at times, overwhelming.
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