Friday, May 28, 2010

UCLA scientists identify gene linked to deadly disorder in newborns

UCLA scientists identify gene linked to deadly disorder in newborns: "DNA detective work will lead to earlier prenatal testing.

After 12 years of searching, UCLA scientists have tracked down the first known gene mutation responsible for a heartbreaking disorder that kills newborn babies. Published in the April 1 online edition of the American Journal of Human Genetics, their findings will allow for earlier testing of embryos at risk for the disease.

Many things go awry in short-rib polydactyly syndrome. The fetus develops extra fingers and toes and its skeleton doesn't grow, resulting in stunted ribs that prevent the lungs from maturing in the womb. Unable to breathe on its own, the child dies shortly after birth.
Parents currently must wait until the second trimester of pregnancy for a diagnosis - a long time to wait for potentially agonizing news about one's unborn child."... (Click on title link above to read entire article on new gene research which will provide earlier testing for at-risk embryos.) ...

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