Meet our community: Bhavini Makwana
Bhavini was diagnosed with RP in 1997 aged 17. The consultant who confirmed her diagnosis told her that “there was no cure or treatment and she should prepare to go blind".
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Bhavini was diagnosed with RP in 1997 aged 17. The consultant who confirmed her diagnosis told her that “there was no cure or treatment and she should prepare to go blind".
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.
Various dates and locations available. Skydiving is an exhilarating experience, and you can do this while supporting our cause.
Russ was diagnosed with Choroideremia at the age of 11, after visiting caves in Spain and not being able to see anything.
Mark your special day, whilst fundraising for people with inherited sight loss.
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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.
Our community are the reason we are able to continue supporting those with inherited sight-loss conditions through research and practical support.
We are proud to launch our new Young Persons Project, which will play a significant role in providing impactful and timely support for young people with inherited sight loss and mental health challenges, across the UK.
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).