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A preclinical Gba p.E326K mouse model for precision-medicine research

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This technology describes a mouse model of Gaucher disease (GD) and Parkinson’s Disease (PD), consisting of a p.E326K mutation in the Glucocerebrosidase (GBA) gene.

Unmet Need: Model for studying Gaucher Disease and Gba-Associated Parkinson’s Disease

Gaucher disease (GD) is a common autosomal recessive lysosomal storage disorder caused by biallelic mutations in the Glucocerebrosidase (GBA) gene. Mutations in this gene is also associated with increased risk for Parkinson’s Disease and dementia with Lewy bodies (DLB). Currently there is no treatment for neurological symptoms in GD and PD/DLB, but novel drugs are under development. There is need for an animal model to evaluate drug candidates preclinically and study the pathobiology behind these diseases.

The Technology: A preclinical Gba p.E326K mouse model

This technology describes a Preclinical Gba p.E326K mouse model for biomarker and small molecule screening, discovery, and therapeutic development for Gba p.E326K Modifier associated Gaucher disease (GD), Gba p.E326K associated Parkinson’s Disease (PD), Dementia with Lewy Bodies (DLB). The variant was introduced using CRISPR-Cas9 genome editing, and the model was confirmed by behavioral characterization to assess motor and cognitive function.

This technology has been validated in mice.

Applications:

  • Biomarker discovery for early Gba p.E326K associated PD and DLB diagnosis and progression
  • Biomarker discovery for Gba p.E326K Modifier associated GD diagnosis and progression
  • Developing therapeutic approaches for treating GBA p.E326K modifier Associated GD, and Gba p.E326K associated PD and DLB
  • Research tool for studying disease mechanism development and progression
  • Screening drugs and evaluating the efficacy of treatments for those diseases.

Advantages:

  • Offers an in vivo mouse model that captures the disease state and has greater relevance to the disorders
  • This animal line has normal life span, in contrast to the lethal phenotype observed in some GD Models or PD models
  • Mice, compared with other animal models, are relatively economical to maintain, which reduces the developmental costs

Lead Inventor:

Lorraine Clark, Ph.D.

Patent Information:

Patent Pending

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