Metabolic diseases - new methods of treatment
This research was completed on 31 July 2005
|Project Leader||Dr F M Platt PhD, Dr T D Butters MPhil, PhD and Dr D J Sillence PhD.|
|Location||Glycobiology Institute, Department of Biochemistry, University of Oxford.|
|Grant awarded||7 March 2002|
|Start date||1 August 2002|
|End date||31 July 2005|
We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.The glycosphingolipid storage diseases are a group of debilitating and often fatal diseases affecting children and adults. An accumulation of chemicals occurs in the cells of the body and results in cell dysfunction and, in some of the diseases, death in early infancy as a result of progressive neurodegeneration. Symptoms of Tay-Sachs disease, for example, appear in infancy and progress from developmental retardation to paralysis, dementia and blindness with death in the second or third year of life. Other forms of storage disorder include Gaucher, Fabry, Sandhoff and GM1 gangliosidosis. Collectively these severe diseases affect 10,000 patients worldwide. These researchers are developing a new tool, called an assay, to enable the monitoring of patients by means of a blood sample. The team will then be able to evaluate the effectiveness of new drugs used to treat these metabolic diseases.