Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
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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.
Sepul Bio begins clinical trial of ultevursen for USH2A-associated RP
Sepul Bio begins clinical trial of ultevursen for USH2A-associated RP
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.
Limiting side effects from Luxturna treatment
Researchers discovered a method to reduce Luxturna injection-related inflammation, improving safety and potentially preventing chorioretinal atrophy.
Autoimmune Retinopathy
Autoimmune diseases are quite distinct from inherited retinal dystrophies.