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Whole genome sequencing diagnosis achieved

HOUSTON, March 11 (UPI) -- U.S. researchers say they have, for the first time, used whole genome sequencing to achieve a molecular diagnosis in a person with a genetic disorder.

The scientists, led by Richard Gibbs and Dr. James Lupski of the Baylor College of Medicine in Houston, said their findings suggest that, within the near future, genome sequencing could become a routine part of medical care -- both to diagnose rare disorders and help estimate the risk of common disorders.

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During the National Institutes of Health-funded study, the researchers scanned the genome -- the complete set of genes -- in an individual with the neurological disorder Charcot-Marie-Tooth disease type 1, which causes a breakdown of peripheral nerves that control the body's muscles and relay sensations to the brain.

The investigators said they found the patient and three members of his family with the same disease all carried two disease-causing mutations in a single gene previously linked to the disorder.

In a commentary of the study, Dr. Richard Lifton of Yale University's genetics department said the researchers "provide a glimpse of the future for which we need to prepare."

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The research and commentary appear in the New England Journal of Medicine.

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