Breakthrough BBS10 treatment marks major milestone
Catherine L’Estrange, aged 11 from London has become the first individual in the UK to receive an investigative gene therapy treatment for retinal dystrophy associated with the BBS10 gene.
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Catherine L’Estrange, aged 11 from London has become the first individual in the UK to receive an investigative gene therapy treatment for retinal dystrophy associated with the BBS10 gene.
The team have found the cause of disease in the first ever family tree drawn up at Moorfields Eye Hospital over 35 years ago, which had remained unsolved until now.
Jing Yu is a bioinformatician with the Eye Research Group at Oxford University, and is part of the UK Inherited Retinal Dystrophy Consortium (UKIRDC) team, funded by a Retina UK grant.
UK researchers have discovered that passing a weak electrical current between electrodes on a person’s scalp may lead to a reduction in frequency of the visual hallucinations experienced by some people living with sight loss.
We recently received an update on the latest research into Charles Bonnet Syndrome from Dr Jasleen Jolly as part of a Retina UK podcast about visual hallucinations.
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.
Inherited retinal dystrophies (IRDs) are the leading cause of blindness in working-age people in the UK, and children as young as eighteen-months are regularly diagnosed.
Our community is informed and knowledgeable about current research projects into the cause(s) of and treatments for these conditions.
Despite the knock-on effects of the pandemic, there’s been a lot going on this year in the world of research! Here are snapshots of a few stories that have appeared in the Research News section of our website in 2022.
A recently published study has provided the first molecular map of the mutation-specific changes that occur in the retina which lead to Congenital Stationary Night Blindness.