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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About Unlock Genetics
The aim of the site is to increase the level of awareness and understanding of genetic testing and genetic counselling among people living with inherited retinal dystrophies, empowering them to make fully informed decisions about their lives, healthcare and family planning.
Inheritance patterns
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.
x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
Meet our volunteers: Joe Rizzo-Naudi
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.
ProQR announces suspension of LCA10 and USH2A clinical trials
Biotechnology company ProQR has announced that its clinical trials of sepofarsen for Leber congenital amaurosis type 10 and ultevursen for USH2A-mediated retinitis pigmentosa will be wound down with immediate effect.
Retina UK-funded discovery leads to $2.5 award for further research
A discovery made as part of research funded by Retina UK has led to a prestigious award of $2.5 million, enabling scientists to undertake more in-depth investigations and work towards a treatment for a particular type of retinitis pigmentosa.
Exciting developments for new treatment research
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.
jCyte update
In spring 2021, the US company jCyte announced detailed results from their successful phase 2b clinical trial of jCell, a stem cell-based treatment for RP.
A fond farewell and a warm welcome
After more than 10 years of service as Chair of the Board of Trustees, Don Grocott has retired.