UCL Institute of Ophthalmology


Eye2Gene wins Artificial Intelligence in Health and Care Award

18 June 2021

Eye2Gene is a decision support system (DSS) to democratise and accelerate the genetic diagnosis of inherited retinal disease by using AI on retinal scans. It was designed by UCL IoO and the Moorfields Ophthalmic Reading Centre.

AI award

On 16 June 2021 the Department of Health and Social Care announced the 38 winners of round two of the Artificial Intelligence in Health & Care Award, which include the three year £1.3M Eye2Gene Phase 2 project led by Dr Nikolas Pontikos. Dr Pontikos is a group leader at UCL IoO who specialises in developing decision support systems for rare diseases.

The AI Award is making £140 million available over four years to accelerate the testing and evaluation of artificial intelligence technologies which meet the aims set out in the NHS Long Term Plan. This is one of the NHS AI Lab programmes, led by NHSX. The competitive award scheme is run by the Accelerated Access Collaborative (AAC) in partnership with the National Institute for Health Research (NIHR). The Award aims to increase the impact of AI-driven technologies to help solve clinical and operational challenges across the NHS and care settings. It will speed up the most promising technologies through the regulatory process by building an evidence base to demonstrate the effectiveness and safety of AI-driven technologies in health and social care.

Eye2Gene explores the use of AI to determine which genetic condition is causing a patient’s inherited retinal disease, by examining eye scans. With more than 300 possible genetic causes, requiring differing management or treatment options, swift diagnosis is crucial.

The Eye2Gene technology has been developed at UCL and Moorfields, and will be validated at Oxford and Liverpool University Hospitals, as well as the Tokyo Medical Centre in Japan.

Dr Pontikos said:

As more gene-targeted treatments are being developed for inherited retinal diseases and genetic testing is becoming more widely available in the UK, a decision support system to democratise and accelerate the genetic diagnosis of inherited retinal disease will help us identify safely and efficiently patients that are eligible for existing treatments or clinical trials.

The Moorfields Ophthalmic Reading Centre is part of the partnership between Moorfields Eye Hospital and the UCL Institute of Ophthalmology. It was established to provide high quality, standardised, unbiased image grading for clinical trials and other research projects in ophthalmology.


Further reading