
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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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.
In recent years there has, understandably, been a lot of excitement around cutting-edge therapies that target the specific genetic faults underlying inherited sight loss.
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.
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.
Our Keynote speaker will be Mr Kanmin Xue. Mr Xue is a Consultant Vitreo-retinal Surgeon at the John Radcliffe Hospital and Wellcome Trust clinician scientist fellow at the University of Oxford where he leads the Retinal Disease and Repair Group.
Mini-retinas are essentially mini eyeballs in a dish. They contain all of the cell types in the human retina and we can perform many experiments on these to figure out the missing pieces in the puzzle.
Genetic testing and counselling services are usually coordinated through a main hospital where the eye clinic or clinical service is based; some also have clinics in local hospitals across the service’s area.
Come along to our Open Day at our headquarters and hear all about our upcoming 50th anniversary and our vital work.
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.
Alex Pitts from British Blind Sport talks about the benefits of sport and physical activity and the BBS Have a Go Days and Active at Home programme.