Slide 1
Gaucher Disease is inherited in families in an autosomal recessive matter. People have two copes of the gene that makes instructions for glucocerbrosidase. If one of them doesn't work then they become a carrier.( don't have the disease) If they have two they have the disease.
Slide 2
-Enlargement of the liver and spleen
-A low number of red blood cells
-Bone disease
-Nervous system damage
Slide 3
Enzyme replacement therapy involves giving a modified form of the enzyme by infusion every two weeks. This helps stop and reverse symptoms but can't affect nervous system damage.
Slide 4
Research is happening at the Human Genome Research Institute. They look for new treatments and find reasons for diseases.
Slide 5
People come to this site to talk to others with the disease and they tell others about there stories living gaucher disease
Slide 6.
Gaucher disease occurs in about 1 in 50,000 people. It is more frequent in Ashkenazi Jews, 1 in 500 of them are carriers.
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