Medical Research Case Study – Eye Disease

Sir Jules Thorn hoped that the funds available from his charitable trust would help people suffering from distressing medical conditions by aiding diagnosis and by assisting the search for new or improved treatments. The Trustees pursue those objectives through a range of grant programmes. Their support for work aimed at alleviating and treating eye disease provides a good example.

Since its formation in 1964 the Trust has made a substantial investment in funding research undertaken in UK universities. The investigation of eye disease has featured prominently among the many projects it has supported.

The research question
Does gene therapy offer a potential new way to treat inherited eye disease in young people? In 2001 the answer to that question was unknown, but Robin Ali and Adrian Thrasher, two young, very highly regarded scientists at University College London (UCL) had an original hypothesis which they wanted to test. Their difficulty was that it would need substantial funding but at that stage in their careers it was not easy for them to attract that scale of external support.

How the trust helped
A grant of £1 million was provided over 5 years to enable Ali and Thrasher to obtain the convincing data and to develop the technologies they would need to make a clinical trial possible. Their principals at UCL recognised that the Trust’s competition for The Sir Jules Thorn Award for Biomedical Research could provide just the opportunity which Ali and Thrasher required to take their studies forward to the next level. Their grant proposal to the Trust faced fierce competition from applications submitted by investigators at other top medical schools but it was selected after a rigorous assessment process. Independent experts from around the world gave their opinions, and the UCL team faced a challenging visit from the Trust’s experts for comprehensive discussions.

The outcome
The results were hugely encouraging. So much so that the UCL team was able to use the findings to help obtain a substantial new grant from the Department of Health to conduct the first clinical trial of gene therapy for the treatment of a particular form of childhood blindness caused by a gene abnormality which prevents normal function of the retina. No effective treatment exists. The trial, at Moorfields Eye Hospital, involved inserting healthy copies of the abnormal gene into the cells of the retina of patients. It established that the technique is safe, with no side effects, and can improve vision. The results featured prominently on the BBC national news. Having established the proof of principle, the work paves the way for the development of gene therapy approaches for a broad range of eye disorders.

The ground-breaking results demonstrated clearly the case for supporting talented young scientists with novel ideas for bringing therapeutic benefit to patients. The outcome was a perfect match with Sir Jules Thorn’s objective when he established the Trust.

In addition to funding medical research directly, the Trust seeks other opportunities to support the efforts of those engaged in both research and the care and treatment of patients with visual impairment. This has resulted in grants across a wide spectrum of related activities.

Moorfields Eye Hospital
Through its programme of medically related donations, the Trust contributed £750,000 to the appeal to build and equip the new six-storey Richard Desmond Children’s Eye Centre at Moorfields. Completed in 2006, the Centre provides a world-class facility ensuring that children receive the highest possible quality of care. It offers paediatric accident and emergency care, outpatient clinics, a day-case unit (which incorporates the busy Sir Jules Thorn Suite), overnight hostel accommodation for children and their families, and a floor dedicated to research into causes of childhood blindness. By being able to see many patients with relatively rare conditions, researchers are able to develop new and innovative treatments, as in the gene therapy case highlighted above.

Exciting stem cell research is also underway at Moorfields and could lead, for example, to a way of rescuing and regenerating the optic nerve in children who have suffered severe damage from glaucoma. Another Trust grant of £526,000, to create The Sir Jules Thorn Stem Cell Therapy Unit, will help ensure that the Hospital remains at the forefront of efforts to make stem cell regeneration of the eye and the restoration of vision, a reality.

Royal National Institute of the Blind
Through the medium of its small grants programme the Trust supports many national and local charities who provide services for people with sight loss. Although individual grants are modest, there are many charities whom the Trust has assisted over a number of years, such as the RNIB, where grants have been made regularly since 1981.