Gaucher disease research

Gaucher disease research

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  • Phillippe Charles Ernest Gaucher
    Phillippe Charles Ernest Gaucher, discoverer of the disease

Professor Timothy Cox's research group is working to develop gene therapy for adults and children affected by Gaucher disease. Gaucher disease is one of the more common of the lysosomal disorders,causing enlargement of the liver and spleen, painful conditions in the bone, anaemia and a tendency to bleed.

Gaucher disease commonly affects adults as well as children; the adult form usually having started in childhood. In addition to the symptoms noted above, in very young children Gaucher disease can also affect the brain, starting off with a simple squint, but sometimes progressing to a form of epilepsy in adolescence or later childhood. 

Nobody knows why this occurs, but gene therapy seems to offer some prospect for improvement, as does enzyme therapy delivered to the brain. Research into the disease and the brain condition associated with it would be well used by the research team.

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