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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.
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).
Retina UK is delighted that the Scottish Medicines Consortium (SMC) has accepted the gene therapy Luxturna (voretigene neparvovec) for ongoing use by the NHS in Scotland.
Genes exist inside all the cells that make up your body. They contain genetic code (DNA) and provide instructions for constructing proteins, which are the building blocks of our bodies and perform a huge variety of roles.
Your doctor or genetic counsellor will spend some time asking about other people in your family to try to work out the way in which your particular faulty gene has been passed down through the generations – this is referred to as the inheritance pattern.
The cover of this edition celebrates the success of our amazing London Marathon team. Together they have raised more than £43,000.
Biotechnology company MeiraGTx has announced encouraging news from its phase 1/2 clinical trial of botaretigene sparoparvovec (previously known as AAV-RPGR), a gene therapy aimed at X-linked retinitis pigmentosa caused by faults in the RPGR gene.
The following questions are often asked by people contacting Retina UK.
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.
“All the promising research makes you feel like there is light at the end of that very dark tunnel after all.”
