Whole-Genome Sequencing IDs Disease, Suggests Treatment for Afflicted Twins

When Noah and Alexis Beery were diagnosed with cerebral palsy at age two, their parents thought they at last had an answer to the problems that had plagued their twin infants from birth. However, that proved only a way station on a journey to find an answer to the children's problems that combined their mother's determination, the high tech world of next-generation sequencing in the Baylor Human Genome Sequencing Center, and the efforts of talented physicians from across the country. In a report in the June 15, 2011 issue of Science Translational Medicine, researchers from Baylor College of Medicine, experts in San Diego and at the University of Michigan in Ann Arbor describe how the sequencing of the children's whole genome along with that of their older brother and their parents zeroed in on the gene that caused the children's genetic disorder, which enabled physicians to fine-tune the treatment of their disorder. More than that, it also took human genome sequencing to a new level – that of improving treatment for an individual. The Baylor Genome Sequencing Center has pioneered whole genome sequencing of individuals, beginning when they presented Nobel Laureate Dr. James Watson with his full genome sequence on May 31, 2007. It was followed up in 2010, when Dr. Richard Gibbs, director of the Baylor Human Genome Sequencing Center, and Dr. James Lupski, vice chair of molecular and human genetics at BCM, published information on Lupski's whole genome sequence, identifying the gene mutation that caused his form of Charcot-Marie-Tooth Syndrome, an inherited disorder. "When the Baylor HGSC sequenced Watson's genome, it showed we could do a whole genome sequence," said Dr. Lupski. "When we sequenced my genome, it showed that whole genome sequencing was robust enough to find a disease gene among the millions of genetic variations.
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