Charcot-Marie Tooth Disease model

Reference number 5682

Sectors: Medical research, Pharmaceuticals, Research tools

Industries: Biotechnology

Proposed use

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

Problem addressed

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.
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.

Benefits

  • Valuable for pathologies produced by over-expression of a gene including trisomy and amplification in cancer
  • Particularly useful for testing gene therapy approaches if the transgene is human.

Technology overview

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.

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

Intellectual property information

Reagent/material

Contact

Dr Emily Allen-Benton

Industry Partnerships and Commercialisation Executive, Medicine

Emily is an IPC Executive within the Faculty of Medicine team focussed on intellectual property management, supporting Imperial academics with commercial engagement, fostering collaborative research and negotiating out-licenses. Emily manages an IP portfolio which included the Faculty of Medicine Quicktech portfolio, comprising mouse models and other research tools. Emily holds a PhD in Chemistry focussed on the sub-field of Synthetic Biology and has prior experience in the scientific publishing industry.

Contact Emily

[email protected]

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