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.
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New Gene Insertion Therapy for Stargard Disease in Development
SalioGen Developing Novel Gene Insertion Therapy for Stargardt disease.
New mechanism of disease discovered for Retinitis Pigmentosa
The team have found the cause of disease in the first ever family tree drawn up at Moorfields Eye Hospital over 35 years ago, which had remained unsolved until now.
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.
Autoimmune Retinopathy
Autoimmune diseases are quite distinct from inherited retinal dystrophies.
Completed Research Project Outcomes
The following projects were being funded by Retina UK and have recently come to an end.
Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
Webinar: “Mini-Retina” – the future of restored vision
Mini-retinas are essentially mini eyeballs in a dish. They contain all of the cell types in the human retina and we can perform many experiments on these to figure out the missing pieces in the puzzle.
Research round-up, spring 2023
Progress towards treatments for inherited retinal conditions continues to gather pace and there’s been lots going on in the last few months, with more and more approaches being explored. This round-up gives a flavour of the variety of developments, including plenty that are not specific to a particular genetic fault.
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.