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Longer-lived Mouse Models for Studying Gaucher Disease
Case ID:
TAB-3721
Web Published:
12/6/2022
The invention is a novel longer-lived mouse model for Gaucher disease. Gaucher disease is a genetic disorder that results from deficiencies in the enzyme glucocerebrosidase (GBA). The use of animal models to study how the disease progresses has been invaluable in research of this disorder. However, existing mouse models have been limited due to early mortality because the GBA enzyme plays an important role in lysosomal storage.
Researchers at the National Institute of Mental Health (NIMH) generated the Gaucher mice were generated by inserting mutations that reduced GBA enzyme activity into normal mouse DNA. As observed in human patients, the reduced GBA enzyme activity in these Gaucher mice results in glucocerebroside lipid storage in tissue macrophages (Gaucher cells). The availability of these longer-lived mutant Gaucher mice provides a means to understand the development of pathology in bone, brain, and other organs, as well as enabling the unmet public health need for the development of novel treatments that could be safer, more efficient, and cost-effective for patients.
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Direct Link:
https://canberra-ip.technologypublisher.com/tech/Longer-lived_Mouse_Models_fo r_Studying_Gaucher_Disease
Keywords:
ANIMAL
DISORDERS
Gaucher
Gaucher Disease
Human
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Inherited
Models
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TRANSGENIC
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VPXXXX
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For Information, Contact:
Anton Dawson
Technology Transfer and Patent Specialist
NIH Technology Transfer
301-496-6784
anton.dawson@nih.gov