Accelerating research into rare disorders through patient collaboration

Research and development collaboration with Moorfields Eye Hospital and UCL exploring ways to accelerate rare disease research and improve healthcare.

The challenge

Information sharing in the NHS is difficult, and this is holding back science and healthcare. The opportunity is to take a new approach, using technology and data rights to empower patients to do the job themselves, at scale.

Project overview

A rare disease is one that affects less than 1 in 2,000 people, but when considered as a group these diseases are quite common. They affect about 1 in 20 people – globally that’s 350 million.

Most rare diseases are genetic, and therefore affect people throughout their whole lives and can be passed down through the generations. Many are deeply debilitating – for example leading to blindness.

So the case for investing in therapies and treatment is very strong. Until very recently it has been almost impossible to treat rare, genetic disease. Recent progress in science and technology, including artificial intelligence, has transformed this landscape, and there is now the potential to develop revolutionary precision genetic therapies for people with these diseases.

However, one of the main barriers scientists still face is access to large volumes of linked data, which they need to compare individuals’ genetic sequences and clinical histories to identify the patterns that emerge.

This data is hard to collect because for each individual patient the data that scientists need, such as OCT scans, has been generated in many different clinical and community settings over the course of a lifetime. It is not linked, and the NHS – let alone global health services – are unable to link it and share it with scientists.

This also presents a problem for specialist rare disease doctors, who need to see a full copy of a patient’s clinical biography ahead of an appointment. Amazingly, in rare diseases a system for this simply does not exist, and NHS efforts to create one have failed due to the logistics of dealing with patient consent.

The MyEyeSite project is looking at a new way to solve these problems, using rare eye disease as an initial area of focus. Its approach is to empower patients – who above all others have the right and the incentive – to collect, link and share their specialist rare disease data however they wish.

Future vision

The first phase, a feasibility study and prototype, is now complete.

The main areas of focus for this phase have been to research and understand the problem space, design and iterate potential solutions, and complete a market study into the long-term commercial/funding potential. With our colleagues at Moorfields and UCL, we engaged patients, doctors and researchers as collaborators, carried out extensive user research and collaborative design sprints, held two public patient days to garner wider input, worked with the RNIB to ensure accessibility, spoke at many events, and engaged with pharmaceutical companies to explore commercial interest.

The resulting MyEyeSite application design consists of a platform with interfaces (web or mobile) for patients to scan and manage their specialist medical and genetic data on a timeline, and to and share this data with doctors, research studies, family and friends, in a secure, systematic and structured way; and an interface for doctors to review data shared with them in this way. In the future interfaces will be provided for medical research studies to access data – with the right patient consent – to accelerate their work.

We then went on to develop a functional prototype of the application which is in the process of being tested by its different groups of target users, and once finalised will go into production development.

Impact & Recognition

• Journal of Medical Internet Research (JMIR) publication
• IoO Public and Patient Involvement & Engagement Award 2021
• Innovate UK funding award winner 2020
• HDRUK funding award winner 2019
• Film: Introducing MyEyeSite at the Macular Society Conference 2021
• Film: Laura and Alessia – how MyEyeSite came to be
• Film: MyEyeSite – an INSIGHT Exemplar
• Short films about MyEyeSite by NIHR Moorfields BRC
• Podcasts: Interview with Retina UK, BroadEye
• ARVO 2021 conference

Learn more

• Visit MyEyeSite at www.myeyesite.health
• Visit Moorfields Eye Hospital at moorfields.nhs.uk
• Visit UCL at www.ucl.ac.uk

Let’s talk

Digital health is a core sector for Loft. To talk to us about your project get in touch via [email protected].

Loft – Testimonial

“Working with Loft is transforming our ability to engage with patients around data, and empower them to think of their data as an asset that they can take control of, to improve their clinical care and the opportunities for research into their disorder.”

Professor Andrew Webster

Chair of Molecular Ophthalmology, UCL, and Consultant Ophthalmologist, Moorfields Eye Hospital