Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
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SB-007 update: dose-expansion portion of SpliceBio’s phase 1/2 trial underway with first participant dosed at Oxford
SpliceBio has begun the dose-expansion portion of their phase 1/2 clinical trial of SB-007, a dual adeno-associated viral vector gene therapy for Stargardt disease.
SparingVision completes dosing in PRODYGY trial of SPVNO6 for retinitis pigmentosa.
SparingVision have announced this week that they have dosed all participants in their phase 1/2 PRODYGY clinical trial for SPVN06, a gene agnostic therapy aimed at slowing disease progression in Retinitis Pigmentosa (RP).
Trusts and Foundations
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.
Charities demand increase in benefits
Charities representing blind and partially sighted people are urging the UK Government to increase benefits in line with inflation rather than wages, when a decision is made at the end of the month.
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.
Positive early findings from ProQR trial of USH2A therapy
Biotechnology company ProQR has announced encouraging results from its early analysis of the phase 1/2 trial of QR-421a, an innovative approach to treating sight loss caused by mutations in a particular section of the USH2A gene.
A genetic diagnosis for RP can give rise to unexpected surprises
James Birtley is a Retina UK supporter and volunteer who is living with retinitis pigmentosa. He is also a scientist with a particular interest in the structure of proteins, the complex molecules that form the building blocks of our bodies.
Research news round-up – Spring 2024
A round-up of the latest research into inherited retinal conditions - February 2024.
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.