Animal Model of Gaucher’s Disease

Disruptions or mutations in the glucocerebrosidase gene (GBA) are responsible for Gaucher’s disease, a rare inherited autosomal recessive disorder. Until now, the study of sphingolipid metabolism in Gaucher’s disease has been limited to cell culture and in vitro investigations due to the absence of an appropriate animal model. Previous attempts at producing a mouse model for Gaucher’s disease through mutation of the GBA gene have resulted in a non-viable, perinatal lethal phenotype. Researchers at the University of British Columbia have developed a murine conditional hematopoietic GBA knockout model that overcomes previous concerns with Gaucher’s Disease animal models. The model reproduces the liver and spleen glucocerebroside storage and shows evidence of Gaucher cell accumulation. Advantages:
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Enables both temporal- and tissue-specific expression of GBA to investigate the pathophysiology of Gaucher’s disease.
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The animal model recapitulates the liver and spleen pathology
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The model can be used to evaluate therapeutic agents for Gaucher’s disease.

Type of Offer: Licensing



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