x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
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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.
Potential drug targets identified for RP
A recently published study has described numerous disease mechanisms that appear to be common across different types of inherited sight loss, suggesting that there is significant potential for drug treatments that could work regardless of the underlying causative gene.
Meet a researcher: Hassina Zeriri
It’s not very often that we come across a researcher working on a project inspired by their own lived experience of a sight loss condition.
SB-007 update: dose-expansion portion of SpliceBio’s phase 1/2 trial underway with first participant dosed at Oxford
SpliceBio has begun the dose-expansion portion of their phase 1/2 clinical trial of SB-007, a dual adeno-associated viral vector gene therapy for Stargardt disease.
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.
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.
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.
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.
Slowing sight loss in stargardts: Ocugen’s gene therapy trial offers promising early results
Ocugen’s gene therapy candidate, OCU410ST, is an experimental treatment designed to slow vision loss in Stargardt disease, an inherited retinal disease (IRD) with no approved therapies currently.