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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).
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 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.
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.
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.
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.
Luxturna, a gene therapy, is only for the treatment of Leber congenital amaurosis type 2 (LCA2) and severe early-onset RP caused by mutations in a specific gene called RPE65.
