Baylor College of Medicine scientists report that they have identified the specific causative mutation associated with Charcot-Marie-Tooth Disease (CMT). Sequencing was conducted using Life Technologies’ SOLiD™ System.
Results are published in The New England Journal of Medicine. Richard Gibbs, Ph.D., working at Baylor’s Human Genome Sequencing Center (HGSC), found the variant by sequencing the genome of James R. Lupski, M.D., Ph.D., also from Baylor.
Dr. Lupski, a geneticist, has been affected by the motor and sensory nerve function disorder since his early childhood. He comes from a family of 10 where he and three of his eight siblings have been affected by CMT. The disorder primarily affects the human body’s peripheral nerves, which exist outside the brain and spinal cord and supply the muscles and sensory organs in the limbs.
The SOLiD System’s ability to achieve high accuracy at a minimum depth of genome coverage demonstrates proof-of-principle for whole genome sequencing as a medical diagnostic for human disease, the collaborators point out.
“The elucidation of this genetic mutation using high-throughput sequencing is a powerful statement about the use of advanced genome analysis technologies as a discovery and diagnostic research tool and will help accelerate the promise of personalized medicine,” says Shaf Yousaf, president of genomic analysis for Life Technologies. “There is tremendous opportunity to apply this research as proof-of-principle and rapidly advance the discovery of other rare genetic variants associated with disease.”
Based on the success of this research collaboration between Life Technologies and the HGSC, scientists at Baylor will now begin to apply this methodology to the discovery of rare genetic variants in the other 12,000+ genetic diseases.