Inherited diseases found sooner in newborns with DNA scan
LONDON. October 5. KAZINFORM Gene sequencing can speed the diagnosis of rare genetic disorders in newborns and find causes of mental retardation in cases with unknown origins, according to two studies that move DNA mapping closer to clinical use.
Researchers at Children's Mercy Hospitals and Clinics in Kansas City, Missouri , scanned the DNA of sick infants using a new speed-reading method to diagnose rare genetic illnesses in two days instead of weeks, results published in Science Translational Medicine found. Dutch scientists reported in the New England Journal of Medicine how they found genetic answers for 16 of 100 patients with mental retardation of unknown cause, Bloomberg reports.
The new research supports an effort to bring gene- sequencing technology, mostly used in academic, government and company laboratories, into hospitals and doctors' offices for diagnostic purposes. The studies were made possible in part by technology from San Diego-based Illumina Inc. (ILMN) and Carlsbad, California-based Life Technologies Corp. (LIFE) , the two biggest makers of gene-sequencing machines.
"This is the biggest breakthrough in this technology for clinical applications we have seen in a few years," said David Dimmock , a geneticist at the Medical College of Wisconsin and Children's Hospital of Wisconsin in Milwaukee , about the study of newborns. "The ability to sequence and interpret a genome in less than week is huge."
The researchers at Children's Mercy Hospitals and Clinics created software that takes raw data from DNA scanning machines and combs though hundreds of genetic disorders to spot disease- causing mutations. The system provided likely diagnoses for three of four sick babies in about two days.
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