Cracking AMD’s genetic code – rare gene identified

Scientists working on the genetics of age-related macular degeneration (AMD – the commonest cause of blindness in Europe and North America) have identified a new rare gene variant that predisposes people to the condition.

Professor John Yates, Prof Tony Moore and Dr Valentina Cipriani from the National Institute of Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology were part of an international group of researchers involved in the a study of over 2,000 patients with the disorder.  The researchers sequenced DNA from 10 regions of the genome that had been previously linked to AMD and identified two rare variants in the complement factor 3 (C3) gene that are associated with an increased risk of developing the condition.

In an earlier study in collaboration with Cambridge University, Professors Yates and Moore, were the first to identify the role of the C3 gene in the predisposition to AMD.  The findings of the current multicentre study confirm the key importance of C3 and the role of the complement system and inflammation in general in the pathogenesis of AMD.

Explaining the significance of the discovery to the understanding of the genetics of AMD and how it will contribute to the development of treatment, Professor Moore said:

“The results of this study highlight the importance of international collaboration in identifying the remaining genetic variants that predispose people to AMD.  The identification of these genes requires access to very large numbers of patients with AMD which would not be available from a single centre.  The results demonstrate the importance of abnormal immune function in AMD and should eventually lead to new treatments for AMD which target the complement pathway.’

A total of 50 researchers based in over 30 international institutions worked on the study which was supported by funding from a number of organisations including the National Eye Institute and National Human Genome Research Institute in the United States and in the United Kingdom.  the Medical Research Council and the National Institute of Health Research (NIHR)


Notes to editors

NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology is a partnership between Moorfields Eye Hospital NHS Foundation Trust and the UCL Institute of Ophthalmology. Established in April 2007, its purpose is to conduct 'translational research' that is designed to take advances in basic medical research from the laboratory to the clinic, enabling patients to benefit more quickly from new scientific breakthroughs. Our centre is currently one of 12 biomedical research centres that were awarded in 2007 to NHS/university partnerships with an outstanding international reputation for medical research and expertise, and experience of translating that research into the clinical setting. For further information, please visit

Moorfields Eye Hospital NHS Foundation Trust is one of the world’s leading eye hospitals, providing expertise in clinical care, research and education. We have provided excellence in eye care for more than 200 years and we continue to be at the forefront of new breakthroughs and developments. We are an integral part of one of the UK’s first academic health science centres, UCL Partners, and now we are part of one of the first science health networks. We were one of the first organisations to become an NHS foundation trust in 2004. For further information, please visit

UCL Institute of Ophthalmology is one of a number of specialised research centres within UCL (University College London) and is, together with Moorfields Eye Hospital, one of the leading centres for eye research worldwide. The most recent Research Assessment Exercise confirmed the outstanding quality of research carried out at the Institute, with 40 per cent of investigators ranked 4* (world-leading) together with a further 30 per cent ranked as internationally excellent. The combination of the Institute’s research resource with the resources of Moorfields Eye Hospital, which has the largest ophthalmic patient population in the Western World, opens the way for advances at the forefront of vision research. For further information, please visit

About the NIHR The National Institute for Health Research (NIHR) is funded by the Department of Health to improve the health and wealth of the nation through research. Since its establishment in April 2006, the NIHR has transformed research in the NHS. It has increased the volume of applied health research for the benefit of patients and the public, driven faster translation of basic science discoveries into tangible benefits for patients and the economy, and developed and supported the people who conduct and contribute to applied health research. The NIHR plays a key role in the Government’s strategy for economic growth, attracting investment by the life-sciences industries through its world-class infrastructure for health research. Together, the NIHR people, programmes, centres of excellence, and systems represent the most integrated health research system in the world. For further information, visit the NIHR website

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