Will using AI to diagnose rare eye diseases lead to more equal access to research and treatments?
Dr Dayyanah Sumodhee and her research team specialise in using artificial intelligence (AI) to improve the diagnosis of inherited retinal diseases (IRDs). This technology can help speed up genetic diagnosis, ensuring patients access research opportunities and treatments earlier, regardless of where they live.
Dr Dayyanah Sumodhee
Role: Health Psychologist and Senior Research Fellow
Institution: University College London (UCL)
Project name: Evaluating AI-supported genetic diagnosis for inherited retinal diseases (Eye2Gene)
Project type: Seed Award
Project status: Completed
Inherited retinal diseases (IRDs) are one of the leading causes of blindness in the UK. While research opportunities and treatments are on the increase, patients often face significant delays before they can access them because a confirmed genetic diagnosis is required.
This diagnostic process can take time and varies depending on where patients live, contributing to inequalities in access to care and research opportunities.
A team at University College London, led by Dr Nikolas Pontikos, has developed Eye2Gene, an artificial intelligence tool designed to accelerate genetic diagnosis. By analysing retinal images, the technology can help identify a likely genetic cause of a patient’s condition, reducing waiting times and supporting early intervention.
With funding from Sight Research UK, Dr Sumodhee is leading a pilot study at Moorfields Eye Hospital in London to evaluate how well this technology works in a clinical setting. The study will help to assess both how accurately Eye2Gene performs and how patients feel about using AI as part of their diagnosis. The aim is to include up to 250 adults and children over the course of a year. Dr Sumodhee says:
“I’m very much looking forward to starting the data collection. Us researchers are often behind our laptops, but I love this part of my job because I’m with patients. It reminds us why we do what we do.”
If the evaluation shows that Eye2Gene is effective and well received by patients, it could be rolled out more widely across eye hospitals in the UK.
This could mean that patients are better informed about their condition much earlier, giving them improved access to research opportunities and targeted treatments. Dr Sumodhee explains:
“Not only will they be able to access research opportunities and targeted treatment, but also it will help them to feel less isolated. And I think that it will help to reduce the ‘postcode lottery’ situation that people currently face.”
