Gain - Gaucher Disease
Gaucher disease is the most common lysosomal storage disease and is caused by mutations in GBA, the gene that encodes the beta-glucocerebrosidase (GCase) enzyme. These mutations result in the misfolding and subsequent dysfunction of GCase, which leads to the toxic buildup of fat in a variety of organs and tissues such as the liver, spleen, bones and central nervous system (CNS). While there is currently no cure for these patients, enzyme replacement therapy can be used to address non-CNS symptoms. Gain is developing allosteric regulators that are designed to increase GCase activity and decrease toxic fat accumulation in the CNS of patients with Gaucher disease in order to potentially provide the first treatment approach for the disease’s neuronopathic symptoms.
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