Celebrating our Centres - Moorfields

This week, we hear from our colleagues at the NIHR BioResource Centre Moorfields in London about their rare and common eye disorders research. We also celebrate examples of recent progress and find out about the outcomes from a successful patient and public co-development project.

Moorfields team (clockwise from top left male): Andrew W, Vidhi B, Toks A (top of stairs), Aadil K, Juliana P, Nana B

The NIHR BioResource Centre Moorfields is a specialised clinical and research centre that focuses on patients and families with rare inherited eye conditions, as well as common blinding conditions such as age-related macular disease, primary open angle glaucoma and diabetic retinopathy.

The Moorfields Centre combines the internationally recognised excellence across Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, a partnership that is ranked number one in the world for ophthalmology research.

This partnership also hosts the NIHR Moorfields Biomedical Research Centre (BRC), which aims to change lives across the UK and the world by preserving sight and driving equity through innovation, particularly for those with the greatest need.

photo close up of OCT machine
OCT machine

The work of the NIHR BioResource Centre Moorfields has contributed to advances into the causes and treatment of blinding eye conditions, including the development of gene therapies, targeted therapeutics, prosthetic devices and cellular therapies. Moorfields is the only organ-specific NIHR BioResource in operation. It has supported the recruitment of almost 3,000 patients with eye disorders (over 1,200 patients with rare eye disorders and over 1,700 patients with common eye disorders into the research tissue bank).

Rare Eye Diseases

Genetic disorders are rare, but together they affect one in 25 children in the UK and contribute to more than 60% of blindness among infants worldwide. The Moorfields Centre recruit patients into research studies investigating rare eye diseases, many of which are inherited and have no current treatment.

The genes that cause these disorders are well known compared to other branches of medicine but there is still much to understand. Approximately 60% of families are diagnosed with the present genetic testing pipeline, but many more are found through research. The growing cohort of consenting patients and families to the NIHR BioResource is improving our ability to understand these conditions and allows increasing numbers of trials of treatments to prevent visual loss in affected patients.

We are grateful to the many thousands of willing patients and family members that have already contributed to this powerful resource.

Common Eye Disorders

The NIHR BioResource Centre Moorfields is also currently recruiting patients with common eye diseases, predominately glaucoma, age-related macular degeneration and diabetic retinopathy. Unlike rare diseases, common diseases can have complex genetic causes. Rather than one rare genetic mutation causing disease on its own, it is the cumulative effect of many common genetic variants that results in a higher chance of disease.

The Centre is focussed on linking the recruited patients’ genetic data to their hospital outcome data, so prediction tools can be built which helps to assess the risk of these diseases and predict individual response to treatments. In the future, this will allow increased treatment personalisation for patients with common eye disease.

Celebrating progress

photo of female optician and child patient

With dramatic progress over the last 20 years, gene therapies for inherited diseases of the retina are transforming the outlook for affected young people. Here are two examples of our impact:

Gene supplementation therapy in infants

Leber congenital amaurosis-4 (LCA4) is a rare inherited disease of the retina owing to genetic deficiency of the photoreceptor protein called AIPL1. It results in severe sight impairment from birth with and rapidly progresses in infancy. In the absence of any therapy or clinical trial, the team treated four affected infants with gene therapy to compensate for the AIPL1 deficiency, by using technology to deliver genetic material into cells. Early assessments indicate that the treatment appears to be safe and has improved eyesight in these babies.

Gene therapy to treat young people with inherited retinal diseases

The team were the first in the world to achieve efficient delivery of genes to the retina and show that this improved the structure and functional activity of poorly functioning retinal cells. Since that, the world’s first clinical trial of gene therapy for inherited eye disease was completed, targeting a retinal disorder caused by deficiency of the RPE65 gene. The results of this pioneering trial, which included 15 adults and children (aged 6 to 23 years) with severely impaired sight, showed that gene therapy could improve eyesight for as long as three years after a single dose.

Patient and public involvement and engagement

Gene.Vision website

In response to patients’ feedback on a lack of reliable information on rare genetic eye disorders, an accessible (for deaf and blind people), open access educational website called Gene Vision (www.gene.vision) was developed. The site shares up-to-date condition-specific information, as well as information on current research and clinical trials with patients, their families, carers and healthcare professionals.

The site has over 220,000 new users and 400,000 page views from over 200 countries (one third from the USA and 21% from UK), with over 3,500 new users per week. This engagement and reach has demonstrated a need for such a resource to continue to exist and support patients with difficult diagnoses. 

Get in touch with the team

To get in touch with team at NIHR BioResource Centre Moorfields, please email moorfields.bioresource@nhs.net.

photo of Moorfields Eye Hospital building street view
Moorfields Eye Hospital

Interested in volunteering with the BioResource?

If you are interested in volunteering with the BioResource to be part of future research we support, whether or not you have a health condition, we’d love to hear from you.

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