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.