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Construction of models of human inherited diseases is particularly important for testing gene therapy approaches. Charcot-Marie Tooth Disease is a dominant disorder which causes progressive muscle weakness and an awkward gait and severe demyelination in the peripheral nervous system including the presence of onion bulb formations. The disease is estimated to affect around three million people worldwide.

Researchers at Imperial constructed a model for Charcot-Marie Tooth disease type1A by pronuclear injection of a YAC containing the human PMP22 gene. In one transgenic line, the YAC DNA is integrated in about eight copies and the PMP22 gene is strongly expressed to give a peripheral neuropathy closely resembling the human pathology. 

Target market:
Researchers into Charcot-Marie Tooth Disease (Type 1A). Research into autoimmune neurological disorders would be the main target market.

These Charcot-Marie Tooth Disease Models are available from Infrafrontier (Product # EM:01883)

View these models on Infrafrontier

Summary & Benefits:
This approach will be valuable for pathologies produced by over-expression of a gene including trisomy and amplification in cancer. Such models will be particularly useful for testing gene therapy approaches if the transgene is human.

To order these disease models, please contact Gursharan Randhawa at Imperial Innovations. We will assist the process of obtaining the products from Intrafrontier.


Internal case number: 5682

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Charcot-Marie Tooth Disease model

Models for Charcot-Marie Tooth Disease

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Charcot-Marie Licence 0.10

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