Mutations in this gene cause Gaucher disease. The drug restores the function of the defective GBA1 gene and alleviates the condition. Six patients have been dosed in the study and two of those ...

Sidransky noticed that some of her patients with Gaucher disease, as well as their close relatives, went on to develop Parkinson’s, an unexpected finding since the two diseases were thought to be ...

Together the organisations are developing algorithms for identifying Fabry and Gaucher patients through literature mining and machine learning to find likely undiagnosed cases in health registries ...

Gaucher is a genetic disease where glucocerebroside ... The European orphan drug patient group, Eurordis, has called for pharma to develop more rare disease drugs, but at a lower price.