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The University of Southampton

Alström Syndrome gene is identified and could lead to new therapies for diabetes sufferers

Published: 8 April 2002

Researchers at the University of Southampton have identified the gene responsible for Alström Syndrome, a rare disorder which causes diabetes, blindness, early hearing loss, kidney failure and heart problems in children. Details of the discovery will be published in the May issue of the journal Nature Genetics.

Professor David Wilson, Co-Director of the University's Division of Human Genetics, led the research and he explained the significance of the discovery: "Alström Syndrome is a severe disorder and identifying the cause may lead to new treatments. The children all suffer from insulin resistance, so finding the gene will improve our understanding of the mechanisms of diabetes. This in turn could have implications for the possible prevention and better treatment of diabetes, which is very common in the UK and worldwide."

Professor Wilson headed a large research team in Southampton, working in association with other researchers at the University of Newcastle.

The research was funded by Diabetes UK, the UK's leading charity for people with diabetes. Dr Moira Murphy, Director of Research at Diabetes UK, said: "This could be a real breakthrough for people with diabetes. We hope that this discovery will help to reveal more about how and why people develop insulin resistance, a key factor in Type 2 diabetes. Over 1 million people are already diagnosed with Type 2 diabetes in the UK and it is estimated that a further million have the condition but do not yet know it. It is vital that we seek the best treatments possible to try and prevent the devastating long term effects of the condition such as heart disease and blindness."

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Notes for editors

  1. Alström Syndrome is a rare, genetic disorder affecting mainly children, with many component conditions. As symptoms of the component conditions arise at different stages, diagnosis of the disorder can be difficult. Features include diabetes, childhood blindness, early hearing loss, kidney failure and the heart condition - cardiomyopathy.
  2. The University of Southampton is a leading UK teaching and research institution with a global reputation for leading-edge research and scholarship. The University, which celebrates its Golden Jubilee in 2002, has 20,000 students and over 4,500 staff and plays an important role in the City of Southampton. Its annual turnover is in the region of £215 million.
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