Hope for a new therapy

A pioneering new study by the charity Action Medical Research is aiming to find out how to prevent children losing their sight due to genetic disease.

Professor Cheetham, Dr Van Der Spuy and their team are studying Leber's congenital amaurosis (LCA), a disease that causes blindness or seriously impaired vision from birth, with a view to developing a therapy and providing a deeper insight into how the eye functions.

The team believes the key to LCA lies in the interaction of proteins in the eye. They are also interested in the gene AIPL1, one of the causes of LCA.

'Unlike some of the other genes which cause LCA, we don't know exactly what the APIL1 protein does,' said Cheetham.

'We know that it causes a severe form of the disease when it is mutated, so it's important to know what it does in the eye.'