Breakthrough in the genetics of retinal degeneration
,A new study by international scientists including Moorfields and UCL’s Professor Andrew Webster have identified a sequence of genes which, if disturbed, cause serious visual impairment due to retinal degeneration.
The results of the research were published in a paper in the international journal Nature Cell Biology recently (Monday July 13).
Scientists from over 40 institutions involved in the study developed a Sirna – based genomics screen for the identification of regulators of a group of genes called ciliogenesis and ciliopathy genes.
Ciliopathies are mainly inherited as simple recessive traits but are seen as an emerging class of genetic multi-systemic human disorders that are caused by many largely unrelated genes that affect ciliary structure/function.
The group are unified by shared clinical features, such as cystic kidney, retinal defects and polydactyly, and by the protein products of these genes at or near the cilium (hair like process extending from the surface of a cell which aids the movement of cells).
The researchers interrogated every gene that is required for ciliogenesis and or/ cilla maintenance. By doing so, they have increased the understanding of the biological make up of this group of cells and their movement.
Commenting on the contribution of the research to the understanding of the genetics of retinal degeneration, Professor Andrew Webster said: ”This landmark paper is important for many reasons. The study pushes forward our understanding of the basic biological processes that, when perturbed, cause visual-impairment due to retinal degeneration. It emphasises how these processes can operate in different organs of the body.
“Such studies are only possible through the co-operation of many clinical and basic scientists from different universities, and most importantly, the willingness of patients to take part in clinical studies. These new insights can only shorten the wait for novel treatments.”
Professor Andrew Webster is the Theme Lead for Genotyping, Phenotyping and Informatics within the partnership of the National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology. This study is expected to help geneticists understand the biological makeup of blinding conditions such as Retinitis Pigmentosa and Joubert's Syndrome amongst others.
Notes to editors
NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology was established in April 2007 and awarded a second five-year term by the NIHR from April 2012. 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 11 biomedical research centres that were awarded in 2012 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 www.brcophthalmology.org.
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 www.moorfields.nhs.uk.
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 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 www.ucl.ac.uk.
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 www.nihr.ac.uk
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