Scientists from the University of Leeds have discovered six new forms of inherited blindness, each one resulting from mutations in a different gene important in eye development and vision.
The research, carried out by experts from the University’s School of Medicine focuses on identifying new genes which, when mutated, cause these blinding disorders.
Pinpointing the exact cause gives clinicians the ability to offer their patients more information about how their condition will progress, what risk there is to relatives, and in some cases can point to specific treatment.
A grant from the National Eye Research Centre, together with funding from other sources, supported a team led by Professor Chris Inglehearn, Dr Manir Ali and Dr Carmel Toomes. They studied local families, particularly from the West Yorkshire Pakistani community where such conditions are common, in order to track down the genes involved.
Using DNA technology, they sequenced every gene in patients from families in which multiple members were blind from birth due to conditions such as Leber’s congenital amaurosis, cone-rod dystrophy or global defects of eye development.
The National Eye Research Centre is now fundraising to support the Leeds team on the next steps in the research, in which the greater knowledge gained is used to screen patients on a larger scale, developing and testing new methods to reduce cost and bring closer a time when such tests are available to all patients and their families on the NHS.
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