Related Experiment Videos
Gaucher's disease: past, present and future
1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20852-1260, USA.
Bailliere'S Clinical Haematology
|March 14, 1998
Summary
Gaucher's disease, a genetic disorder, involves glucocerebroside accumulation due to reduced glucocerebrosidase activity. Enzyme replacement and gene therapy offer treatment options for this rare disease.
Area of Science:
- Biochemistry
- Genetics
- Medical History
Background:
- Gaucher's disease was first described in 1882.
- The condition involves the accumulation of glucocerebroside.
- Reduced glucocerebrosidase activity was identified as the cause in 1964.
Purpose of the Study:
- To summarize the historical understanding and progression of Gaucher's disease research.
- To highlight the development of diagnostic and therapeutic approaches.
- To discuss the potential of emerging therapies like gene therapy.
Main Methods:
- Historical review of scientific literature and case reports.
- Biochemical analysis to identify enzyme deficiencies.
- Clinical studies on enzyme replacement therapy (ERT) and gene therapy.
Main Results:
- Established the link between glucocerebrosidase deficiency and Gaucher's disease.
- Enabled development of diagnostic tests and carrier detection.
- Demonstrated efficacy of ERT and initiated gene therapy trials.
Conclusions:
- Understanding Gaucher's disease has evolved from clinical description to molecular and therapeutic insights.
- Enzyme replacement therapy has shown significant benefits.
- Gene therapy holds promise for a potential permanent cure.