Finding Charcot-Marie-Tooth gene ends a quest and begins new era of personalized genomic medicine

Baylor College of Medicine's Dr. James Lupski came to the end of a personal quest earlier this year when the Baylor Human Genome Sequencing Center sequenced his complete genome and identified the gene involved in his own form of Charcot-Marie-Tooth syndrome, which affects the function of nerves in the body's limbs, hands and feet. At the same time, the finding opened a new door showing that genome information has clinical importance.

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