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Posts tagged David Gamm

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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Nobel-Prize-Winning Stem-Cell Researcher Delivers Keynote at FFB-Funded Conference in Kyoto

Shinya Yamanaka, M.D., Ph.D.It was only 10 years ago that Shinya Yamanaka, M.D., Ph.D., discovered how to convert a person’s skin cells into stem cells by tweaking just four genes. The historical breakthrough landed Dr. Yamanaka the 2012 Nobel Prize in Physiology-Medicine, because it meant that patients could be their own stem-cell donors. Known as induced pluripotent stem cells (iPSC), they are now being used to develop powerful therapies and drug-screening tools including those for the retina.

To the delight of nearly 300 retinal researchers from around the world attending the FFB-funded RD2016 meeting, September 19-24 in Kyoto, Japan, Dr. Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD). The study met its main goal – safety – and he and his collaborator, Masayo Takahashi, M.D., Ph.D., are planning to treat additional patients in the near future.

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