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Week In Review: CRISPR Start, RP First, 50-Year Case

Discussion in 'General Discussion' started by In Love With Medicine, Feb 6, 2020.

  1. In Love With Medicine

    In Love With Medicine Golden Member

    Jan 18, 2020
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    A weekly roundup of ophthalmic news from around the web.
    • Editas Medicine is “making history” with their in vivo CRISPR genome-editing trial, the company’s CEO said during a recent healthcare conference. Enrollment has begun for the early-phase trial that will test a single subretinal injection of EDIT-101 in patients with Leber congenital amaurosis 10. They expect the first patient dosing to take place in the first quarter of 2020. Editas Medicine
    • The FDA awarded a rare pediatric disease designation to a first-in-class investigational treatment for retinitis pigmentosa (RP), according to an announcement by ProQR. Their RNA-based oligonucleotide therapy targets diseases caused by mutations in the USH2A gene. The company hopes that the intravitreal treatment will address vision loss associated with Usher syndrome type 2 and nonsyndromic retinitis pigmentosa. ProQR
    • Meanwhile, in other RP news, researchers report the first known example of juvenile Oguchi disease progressing to retinitis pigmentosa. The patient—now a 77-year-old man—was diagnosed with Oguchi disease with Mizuo-Nakamura phenomenon way back in 1966. Incredibly, investigators were able to recover his fundus images from that time, which showed the disease’s hallmark metallic sheen on the posterior pole but with no signs of retinal degeneration. The side-by-side comparison of the past and present images (shown above) appears in the January 2020 issue of the Academy’s flagship journal. Ophthalmology
    • After more than 40 years of failed attempts, scientists have uncovered the structure of one of the eye’s “guardian angel” proteins: the αA-crystallin protein. Their discovery revealed that αA-crystallin plays an active role in protecting other proteins from oxidation on top of its more well-known function in maintaining lens transparency. Lead author Professor Sevil Weinkauf of Technical University of Munich hopes that this discovery will spawn further research in developing therapies for cataract prevention. Technical University of Munich, Nature Structural & Molecular Biology.



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