Eye2Gene Validation in a Clinical Setting
Research type
Research Study
Full title
Eye2Gene Validation in a Clinical Setting
IRAS ID
360690
Contact name
Nikolas Pontikos
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
2 years, 0 months, 30 days
Research summary
What is the background to the problem?
Inherited retinal disease, which are caused by genetic defects in DNA, are a leading cause of blindness in children and working age adults in the UK.
It is really important to identify the genetic cause of these conditions in order to manage and treat them properly. However, despite recent advances in genetic testing, many individuals have yet to receive a diagnosis.
Recognising this unmet need, we have developed Eye2Gene, an AI able to identify the most likely inherited retinal disease directly from a retinal scan in a way which is convenient for patients, cost-effective and gives immediate results.
What is the goal of your proposed research?
The goal of our research is to evaluate how well Eye2Gene works in the real world when used in a busy eye clinic such as the one at Moorfields Eye Hospital.
We want to find out whether Eye2Gene is well received by doctors and patients and what is its impact on doctor practise and on the patient journey.Why does it matter to patients?
It is important for patients to get early genetic diagnosis so they can access special gene-targeted treatments. Other benefits include family planning, reduced health anxiety and improved care.
It will also motivate pharma companies to invest more into novel gene therapy treatments if they are more potential patients that have a known genetic diagnosis and that can therefore be treated.
REC name
London - Hampstead Research Ethics Committee
REC reference
25/LO/0841
Date of REC Opinion
5 Jan 2026
REC opinion
Further Information Favourable Opinion