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Funding paves the way for achromatopsia
A research project funded by Retina UK helped pave the way to a new gene therapy that has recently produced encouraging results in two young people with achromatopsia, a condition that causes complete colour-blindness and poor overall vision from birth.
x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
Gene Therapy improves functional measures in XLRP
Beacon Therapeutics announced positive results from their phase 2 gene therapy trial for X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene.
Significantly worse vision found in female carriers of X-linked RP and Choroideremia
It was previously believed that female carriers of X-linked inherited retinal diseases (IRDs) like X-linked retinitis pigmentosa (RP and Choroideremia) remained unaffected by sight loss.
Disappointing news from ProQR clinical trial for LCA10
ProQR has published the top-line results from its Phase 2/3 “Illuminate” trial of the RNA therapy sepofarsen for Leber congenital amaurosis type 10 caused by a specific mutation in the CEP290 gene.
Antabuse moves into clinical trial for people with RP
Disulfiram (Antabuse), FDA-approved for deterring alcohol, is in a phase 1 trial at the University of Washington to improve vision in retinitis pigmentosa.
Brain stimulation may reduce hallucinations
UK researchers have discovered that passing a weak electrical current between electrodes on a person’s scalp may lead to a reduction in frequency of the visual hallucinations experienced by some people living with sight loss.
Research news round-up – Spring 2024
A round-up of the latest research into inherited retinal conditions - February 2024.
Autosomal dominant inheritance
Autosomal dominant inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that only one faulty copy is needed to cause sight loss.