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.
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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.
Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
Sirius clinical trial – Exon 13 mutation of USH2A
Prof Mariya Moosajee at Moorfields Eye Hospital has asked us to share the message below about the clinical trial she is running. This trial is for a treatment that targets a particular section of the USH2A gene.
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.
Study of substances in blood suggests choroideremia is not just an isolated eye disease
Choroideremia is a rare genetic condition resulting in progressive sight loss in men.
Phase 3 clinical trial has been given approval by FDA
The FDA has given Ocugen permission to start their phase 3 gene therapy clinical trial for retinitis pigmentosa (RP).
Johnson & Johnson gene therapy update – What happens now?
The latest research news from Retina UK.
Research grants
Retina UK aims not only to progress research along established threads, but to stimulate new thinking, encourage innovative approaches and nurture original ideas.
Meet a Researcher: Stéphanie Cornelis and Mubeen Khan
The project aims to develop a cost effective method of examining the entire ABCA4 gene to look for variations that might cause disease.