Results from three studies conducted by researchers at the National Eye Institute (NEI), part of the National Institutes of Health (NIH), have recently been reported including two retina-related programs and the identification of a pediatric disorder called COMMAD.
NEI researchers have reportedly found silencing a gene called Nrl in mice prevents the loss of cells from degenerative diseases of the retina, which could lead to novel therapies for preventing vision loss from human diseases such as retinitis pigmentosa.
For their study, the researchers reportedly used a new genome editing technology called CRISPR (clustered regularly interspaced short palindromic repeats) to remove the Nrl gene in mouse models of retinal degeneration, causing rod degeneration to be prevented or slowed.
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Researchers from NEI also recently found the breast cancer drug tamoxifen appears to protect light-sensitive cells in the eye from degeneration. According to scientists, the drug prevented immune cells from removing injured photoreceptors, suggesting tamoxifen might work for the treatment of age-related macular degeneration (AMD) and retinitis pigmentosa.
The study was recently published in the Journal of Neuroscience.
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And NEI scientists have reportedly identified the genetic underpinnings of a rare disorder that causes children to be born with blindness, deafness, albinism and fragile bones. Called COMMAD, the syndrome affects children who inherit two mutations of a gene — one from each parent — each of whom is deaf due to another rare, genetic disorder called Waardenburg syndrome 2A.
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Source: National Eye Institute