Autosomal recessive inheritance
Autosomal recessive inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that both copies need to be faulty to cause sight loss
Search
Search results
Sirius clinical trial – Exon 13 mutation of USH2A
Prof Mariya Moosajee at Moorfields Eye Hospital has asked us to share the message below about the clinical trial she is running. This trial is for a treatment that targets a particular section of the USH2A gene.
New website aims to increase understanding of genetics
High quality information on genetic testing and counselling for families affected by inherited sight loss is now available in one place thanks to the launch of an innovative new website, Unlock Genetics.
A new approach to treating inherited sight loss
A new approach to treating inherited sight loss
ProQR announces agreement with Laboratoires Théa for inherited retinal disease programmes
Biotechnology company ProQR has announced that two of its RNA therapy development programmes for inherited sight loss are being acquired by Laboratoires Théa, a company specialising in eye care products.
First clinical trial participant receives CRISPR-based therapy
An American living with Leber congenital amaurosis 10 (LCA10) has become the first clinical trial participant in the world to receive a CRISPR gene editing treatment in vivo (inside the body).
Research round-up, spring 2023
Progress towards treatments for inherited retinal conditions continues to gather pace and there’s been lots going on in the last few months, with more and more approaches being explored. This round-up gives a flavour of the variety of developments, including plenty that are not specific to a particular genetic fault.
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.
Stem cells
Stem cells are a special type of cell, which under the right conditions can be encouraged to grow into any other type of cell in the body, including retinal cells (rods, cones and retinal pigment epithelial cells).
Genetics and gene therapy
When we talk about gene therapy we are usually referring to use of a harmless virus, called a vector, to deliver a normal copy of a defective gene into the cells of the eye.