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Research Projects
 
     
 
The expansion of gene-specific trinucleotide repeat sequences are the cause of at least 21 human neurological, neurodegenerative or neuromuscular diseases. Trinucleotide repeat diseases include myotonic dystrophy type 1 (the most common form of muscular dystrophy), Huntington's disease, spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 12, 17 and fragile X (the most common form of inherited mental retardation. Repeat expansions occur in parent-to-offspring transmissions as well as in patient tissues - accumulating over the course of their life. Repeat expansions contribute to the progressive nature of the diseases. However, the mechanism of instability is not clear. Our research focuses on understanding the molecular mechanisms of both repeat expansions and contractions, in mammalian and human systems. Projects are in various areas, with focus upon myotonic dystrophy, fragile X, spinocerebellar ataxia type 7, and Huntington's disease loci.
 
 
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