GAUCHERS-DISEASE - PAST, PRESENT AND FUTURE

A patient with what is now known as Gaucher's disease was first descri bed by P. C. E. Gaucher in 1882. Fifty years later, Aghion reported th at patients with this condition accumulated a sphingoglycolipid called glucocerebroside. Considerably more time was required for the demonst ration by Brady and co-workers in 1964 that Gaucher's disease was due to reduced activity of a beta-glucosidase called glucocerebrosidase. T his information provided the basis for the development of reliable dia gnostic tests, detection of most of the carriers of this disorder and the prenatal diagnosis of this condition. Evidence was presented in 19 90 and 1991 indicating the highly beneficial effects of enzyme replace ment therapy in patients with Gaucher's disease. Gene therapy for Gauc her's disease was initiated in 1995. While little indication of succes s was obtained in this inaugural attempt, it is expected that improvem ents in this technology will provide a permanent cure for patients wit h this disorder.