Aavantgarde Bio Ush1B study at Moorfields
Aavantgarde Bio Ush1B study at Moorfields
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Funding paves the way for achromatopsia
A research project funded by Retina UK helped pave the way to a new gene therapy that has recently produced encouraging results in two young people with achromatopsia, a condition that causes complete colour-blindness and poor overall vision from birth.
Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
Brain stimulation may reduce hallucinations
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.
Gene Therapy improves functional measures in XLRP
Beacon Therapeutics announced positive results from their phase 2 gene therapy trial for X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene.
Significantly worse vision found in female carriers of X-linked RP and Choroideremia
It was previously believed that female carriers of X-linked inherited retinal diseases (IRDs) like X-linked retinitis pigmentosa (RP and Choroideremia) remained unaffected by sight loss.
Potential drug targets identified for RP
A recently published study has described numerous disease mechanisms that appear to be common across different types of inherited sight loss, suggesting that there is significant potential for drug treatments that could work regardless of the underlying causative gene.
Meet a researcher: Hassina Zeriri
It’s not very often that we come across a researcher working on a project inspired by their own lived experience of a sight loss condition.