Research topic: Gauchers disease

Gaucher's disease , rare genetic disease involving a deficiency of an enzyme, glucocerebrosidase, which normally breaks down certain body glycolipids (i.e., lipids (fats) that have a sugar molecule attached). There are three types of the disease. In all three types, the enzyme deficiency results in a buildup of the glycolipid glucocerebroside in the bone marrow, liver, and spleen, resulting in anemia and other blood disorders, bone pain and pathologic fractures, and enlarged liver and spleen. In Type II, the central nervous system is also affected. Patients are severely mentally retarded... Read more