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Research into inherited retinal conditions is one of the key objectives of Retina UK.
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Research into inherited retinal conditions is one of the key objectives of Retina UK.
These are some of the most commonly asked questions about genetic testing and counselling.
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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.
Elena Piotter, a PhD student working in Robert MacLaren’s group in the Nuffield Laboratory of Ophthalmology at the University of Oxford, is currently researching DNA and RNA base editing tools aiming to correct pathogenic mutations in ABCA4.
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.
Our amazing volunteers are diverse in age, background and ethnicity. The one thing they have in common is that they are all living with, or directly affected by, an inherited sight loss condition.
Graeme's son is living with retinitis pigmentosa and he has decided to take on an extreme challenge - running 250km across the Sahara Desert, with 6 stages, varying in length from 21km to 82 km, over 7 days.