Gaucher disease research
Professor Timothy Cox's research group is working to develop gene therapy for adults and children affected by the lysosomal disorder Gaucher disease.
Gaucher disease is one of the more common of the lysosomal disorders; it quite commonly affects adults as well as children. The adult form usually starts in childhood and causes enlargement of the liver and spleen, painful conditions in the bone, anaemia, and a tendency to bleed. In very young children it can also affect the brain, starting off with a simple squint, but sometimes progressing to a horrible 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.