Diseases, Conditions, Syndromes

Drug improves measures of genetic disease that affects liver, spleen

Among previously untreated adults with Gaucher disease type 1, a genetic disease in which there is improper metabolism due to a defect in an enzyme, treatment with the drug eliglustat resulted in significant improvements ...

Medical research

Attacking a rare disease at its source with gene therapy

Treating the rare disease MPS I is a challenge. MPS I, caused by the deficiency of a key enzyme called IDUA, eventually leads to the abnormal accumulation of certain molecules and cell death.

Genetics

Cancer drugs help the hardest cases of Pompe disease

Kids with Pompe disease fail because of a missing enzyme, GAA, that leads to dangerous sugar build-up, which affects muscles and movement. An enzyme replacement treatment pioneered at Duke University has saved many lives, ...

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