1. By Sarah Moudy Also known as Glucocerebrosidase deficiency

2. This disease (type 1) is most common in Ashkenazi Jewish heritage. These candidates have a 1 in 500 to 1,000 chance of receiving the disease. Throughout the rest of the general population, everyone has a 1 in 50,000 to 100,000 chance of receiving the disease. So it is not uncommon.

3. Type 1: Enlarged spleen and liver Anemia (low blood cell count) Easy bruising Lung disease Bone fractures, pain, and arthritis Types 2 and 3: (Same as type 1) + Abnormal eye movements Seizures Brain damage Perinatal lethal form (often fatal): Extensive swelling in infants Skin abnormalities Distinctive facial features Neurological problems Cardiovascular Type: Heart valves harden Eye abnormalities Bone disease Enlargement of spleen

4. Gauchers Syndrome is autosomal recessive, and is found on the GBA gene (chromosome 1) caused by a mutation. A child inherits this disease by both the mother and father carriers.

5. Blood tests are run Testing of bone marrow Biopsy of the spleen MRI CT scan X-ray of the skeleton Can be tested at any age Bone marrow transplant (in severe cases) Enzyme replacement therapy

6. The National Gaucher Foundation http://www.gaucherdisease.org/ http://www.gaucherdisease.org/ Children’s Gauchers Disease Research Fund www.childrensgaucher.orgwww.childrensgaucher.org

7. Discovered in 1882 by a French doctor named Philippe Gaucher First treatment approved by FDA in 1995 Most victims will appear to have a big belly

8. http://ghr.nlm.nih.gov/conditi on/gaucher-disease http://ghr.nlm.nih.gov/conditi on/gaucher-disease http://health.nytimes.com/heal th/guides/disease/gaucher- disease/overview.html http://health.nytimes.com/heal th/guides/disease/gaucher- disease/overview.html http://www.absoluteastronom y.com/topics/Gaucher's_disease http://www.absoluteastronom y.com/topics/Gaucher's_disease