Hope for Children with Inherited Blindness Disease
12 September 2005
A pioneering new Action Medical Research study, based at the Institute of Ophthalmology at University College, London, is hoping to prevent children from losing their sight.
Leber congential amurosis (LCA) is an inherited disease that causes total blindness or greatly impaired vision from birth.
Professor Cheetham and Dr van der Spuy will be working to understand LCA better with a view to developing therapy for this form of blindness, as well as providing a deeper insight into the way the eye works and develops.
This may, in turn, have a broader relevant to other forms of blindness and the development of new therapies.
The team believes that the key to the disease lies in proteins that are present within the eye and how they interact. The researchers are also particularly interested in the gene – AIPL1 – which is one of the causes of LCA.
Professor Cheetam said, “Unlike some of the other genes which cause LCA, we don’t know exactly what this APIL1 protein does.
“We know that it causes a severe form of the disease when it’s mutated, so it’s important to know what it does in the eye. We can tell from its similarity to other proteins that it is likely to act as a “molecular chaperone”, escorting proteins round the body and disposing of them if they start to malfunction.”
Knowing more about the role of ‘molecular chaperones’ could also have wider implications in the understanding of how other diseases develop, especially degenerative diseases like Alzheimer’s, where scientists have found that sufferers have accumulations of faulty proteins.
Andrew Proctor of Action Medical Research said, “This groundbreaking study is unique because as well as looking to find a cause for an inherited form of blindness, it may open much wider possibilities within the medical research community.
“This is part of the Action Medical Research Touching Tiny Lives campaigns to help mothers-to-be and their babies.
“More research is needed to ensure that all babies grow up to live healthy lives.
“Our Touching Tiny Lives Campaign is looking to raise £3m to fund vital projects whilst highlighting the urgent need for more research.”
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