
Genetics and gene therapy
When we talk about gene therapy we are usually referring to use of a harmless virus, called a vector, to deliver a normal copy of a defective gene into the cells of the eye.
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When we talk about gene therapy we are usually referring to use of a harmless virus, called a vector, to deliver a normal copy of a defective gene into the cells of the eye.
In 2014 we funded an exciting new collaborative project. The UK Inherited Retinal Dystrophy Consortium (UKIRDC) Project brought together the four largest research groups in the UK specialising in inherited retinal diseases (IRDs).
Researchers who received funding from Retina UK have carried out experimental gene therapy that is reported to have led to ‘life changing improvements’ to sight for four children with inherited sight loss.
Emily Kearney is mum to four boys, aged four to 13, two of whom are living with an inherited sight loss condition.
Aged 20, James was diagnosed with retinitis pigmentosa at a routine eye appointment in September 2015 and registered partially sighted, just prior to buying his first car and taking his driving test.
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With a significant proportion of inherited retinal conditions being caused by unidentified genetic faults, and many families unable to get clear results from genetic tests in clinic, the project set out to solve previously undiagnosable cases and discover more of the genes and mutations that are associated with sight loss.
Retina UK has invested more than £16million into cutting-edge research since the charity was founded in 1976.
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