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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.

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.

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• Retinitis pigmentosa

“All the promising research makes you feel like there is light at the end of that very dark tunnel after all.”

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Biotechnology company ProQR has announced encouraging results from its early analysis of the phase 1/2 trial of QR-421a, an innovative approach to treating sight loss caused by mutations in a particular section of the USH2A gene.

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• Usher syndrome

Researchers who received funding from Retina UK have carried out experimental gene therapy that is reported to have led to ‘life changing improvements’ to sight for four children with inherited sight loss.

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• Leber congenital amaurosis (LCA)

Giving a regular monthly or quarterly donation of any amount is a wonderful way to help Retina UK support the inherited sight loss community.

Early 2020 marked an important milestone for the Retina UK community, when the first person with an inherited retinal condition received NHS treatment to potentially slow or even stop the progression of their sight loss.

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Be a souper-star and raise funds whilst having lunch for #TeamRetinaUK

Our monthly e-Newsletter featuring the latest updates from Retina UK.

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