Two-day test can spot gene diseases in newborns – Wed, 03 Oct 2012 PST

October 3, 2012 in Nation/World

Lauran Neergaard Associated Press

WASHINGTON (AP) Too often, newborns die of genetic diseases before doctors even know whats to blame. Now scientists have found a way to decode those babies DNA in just days instead of weeks, moving gene-mapping closer to routine medicalcare.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a babys symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethalillnesses.

Wednesdays study is a tentative first step: Researchers at Childrens Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasnt done in time to help most ofthem.

But the hospital finds the results promising enough that by years end, it plans to begin routine gene-mapping in its neonatal intensive care unit and may offer testing for babies elsewhere, too while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at ChildrensMercy.

For the first time, we can actually deliver genome information in time to make a difference, predicted Kingsmore, whose team reported the method in the journal Science TranslationalMedicine.

Even if the diagnosis is a lethal disease, the family will at least have an answer. They wont have false hope, headded.

More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomescrucial.

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Two-day test can spot gene diseases in newborns - Wed, 03 Oct 2012 PST