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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.
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.
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.
Dr Rachel Taylor is part of the UK Inherited Retinal Dystrophy Consortium (UKIRDC) team at the University of Manchester.
Jenny Dewing is a postdoctoral researcher working on a Retina UK-funded project with Dr Arjuna Ratnayaka at the University of Southampton.
Russ was diagnosed with Choroideremia at the age of 11, after visiting caves in Spain and not being able to see anything.
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.
My name is Mark Baxter and from an early age I was diagnosed with a deteriorating retinal eye condition called retinitis pigmentosa or RP for short, which will slowly lead to blindness.
Simon talks about his experience of genetic testing and counselling.
