Look Forward – Summer 2022 – Issue 177
We’re all still buzzing from our recent conferences. We do hope you enjoyed them as much as we did. If you weren’t able to join us, then you can watch or listen to the recordings on our website.
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Exciting developments for new treatment research
In recent years there has, understandably, been a lot of excitement around cutting-edge therapies that target the specific genetic faults underlying inherited sight loss.
Collective support from Sight Loss Charities
The cost-of-living crisis is having a major impact on the lives of blind and partially sighted people. Many people are becoming increasingly concerned about how they will make ends meet. Sight Loss Charities have come together as between us we can offer help and support.
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.
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.
A blog from the research coal face
Jing Yu is a bioinformatician with the Eye Research Group at Oxford University, and is part of the UK Inherited Retinal Dystrophy Consortium (UKIRDC) team, funded by a Retina UK grant.
Drugs for cancer and alcoholism show promise for RP
With all the interest in exciting gene and cell therapies for inherited sight loss, it’s easy to forget that more traditional drugs can also hold promise.