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Genetic testing: an essential topic for discussion with the IRD community

As Luxturna reaches the clinic and other gene-specific therapies for inherited retinal disease get closer to the end of the development pipeline, it is becoming ever more important that affected families can access a genetic diagnosis, potentially opening up choices around treatment and clinical trial participation.

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Your generous support allows Retina UK to fund the work of leading scientists who are increasing understanding of inherited sight loss and moving us closer to treatments.

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Podcast: What is the UKIRDC and why does it exist?

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.

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Genetic testing

Genetic testing, usually via a blood sample, is used to try and identify which gene contains the fault that is causing an individual’s sight loss.

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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.