18 November 2002
Oxford has clinched substantial charity funding to investigate a group of debilitating and often fatal diseases affecting children and adults.
A team of scientists based in the city will spend three years focusing on metabolic diseases, thanks to more than £120,000 from Action Research.
The national charity, which is celebrating its 50th anniversary this year, has awarded the grant to the Glycobiology Institute at Oxford University’s Department of Biochemistry.
The team, led by Dr Frances Platt and Dr Terry Butters, is looking at a group of genetic conditions which play havoc with the body’s cells, known as glycosphingolipid storage diseases.
Some of the conditions are fatal. In Tay-Sachs disease (TSD), for example, which affects one in 25 of the Jewish community and one in 250 of the general population, symptoms appear in infancy. The youngster gradually regresses, losing skills one by one, and is eventually unable to crawl, turn over, sit, or reach out. Eventually, the child becomes blind, mentally retarded, and paralysed, and dies before their third or fourth birthday.
To date, there is no cure or effective treatment for TS.
Dr Platt, a glycobiologist says: ‘What happens in these diseases is that there is an abnormal accumulation, or storage, of certain waste products in an individuals’ cells or tissues.
‘As this build-up occurs, the cells become damaged and lose their ability to function properly, leading to a variety of problems. In some of the diseases, the problems become so progressive infants die a premature death.’
While the specific symptoms of these metabolic disorders can differ, they do share many traits. Other forms of storage disorder include Gaucher, Fabry, Sandhoff and GM1 gangliosidosis. Collectively these severe diseases affect 10,000 patients worldwide.
The Oxford researchers, which also include Dr Daniel Sillence, and Ms Danielle te Vruchte, are developing a new blood sampling technique designed to help monitor the disease. The team will then be able to evaluate the effectiveness of new drugs used to treat it.
Action Research is dedicated to helping overcome disease and disability for children, families and the elderly across the UK. Its Touching Lives Campaign aims to raise £2.5m in 2002 for vital medical research and more details can be found at www.action.org.uk
Notes To Editors: For further information and interviews, please contact Nicole Duckworth or Andrew Proctor in the Action Research press office on 01403 327403 Fax: 01403 210541, or email email@example.com
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