Fight for Sight and Retina UK funded researchers identify new cause of inherited eye condition – retinitis pigmentosa

06 October 20

written by:

Róisín Treacy

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A blonde woman wearing glasses smiling at the camera.

Researchers funded in partnership by Fight for Sight and Retina UK have identified a new cause of the most common inherited eye condition, which will allow for work to begin on the development of potential treatments for the condition, in results published in the American Journal of Human Genetics on Monday (October 5th).

Retinitis pigmentosa is the term used for a group of closely related inherited eye conditions that affect the retina, the specialised light-sensitive tissue at the back of the eye. The condition, which causes degenerative sight loss and can eventually lead to blindness, affects around one in 4,000 people in the UK.

The research was led by Professor Alison Hardcastle at UCL Institute of Ophthalmology and her collaborator in The Netherlands, Dr Susanne Roosing. The team identified the new cause of dominant retinitis pigmentosa in 22 families, affecting over 300 individuals, which until now had remained unsolved for over 35 years. Most changes identified as the cause of retinal diseases affect the sequence of a gene, however in these families, researchers identified complex re-arrangements of the chromosome as the cause of the condition.

Professor Hardcastle’s team then used patient stem cells to investigate how complex re-arrangements of this part of the chromosome might lead to retinal degeneration. They found that the chromosome structure was altered so that a gene (GDPD1) which should be ignored by the retinal cells was instead ‘read’, leading to the malfunction.

Professor Hardcastle said: “This discovery represents a new mechanism of retinal disease, and new understanding of how alterations of the human genome can cause inherited conditions. We hope our discovery and new knowledge will now lead to many more similar discoveries. It was such a pleasure to work with our international collaborators, including researchers in Cape Town and Berlin.Now that we understand the genetic basis for the disease, we can start developing potential treatments to slow disease progression and preserve vision.”

Director of Research at Fight for Sight, Dr Neha Issar-Brown said: “Professor Hardcastle’s findings are incredibly important for the 22 families directly involved in this study, but they also demonstrate the potential for identifying other causes of inherited conditions - for eye research and beyond. This will undoubtedly help in the search for new treatments and cures for these eye conditions, which have lacked mechanistic understanding and therefore, treatment pathways. Professor Hardcastle’s work represents an important breakthrough and shows that more research is vital to find the causes, treatment and cures for sight loss now and in the future.”

Graphical abstract of the research project.
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