Personalized Medicine

Scientists Discover Causative Genetic Mutation Associated with Common Inherited Neurological Disorder10 Mar

In an exciting application of whole genome sequencing technologies, Richard Gibbs and James Lupski from Baylor used Life Tech’s SOLiD system to find the mutation implicated in Charcot-Marie-Tooth Disease (CMT), a neurological disorder that currently affects 1 in 2,500 individuals in the United States. This acts as a proof of concept for whole genome sequencing as a diagnostic for human disease.

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