Saving Yemenite Babies…. And Others

29Sep09

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A Mutant gene believed to be carried by one in every 40 Jews of Yemenite origin that is liable to cause fatal liver insufficiency in infants has been discovered by Prof. Orly Elpeleg, Head of the Pediatric Metabolic Diseases Unit at Hadassah.

The discovery was made from observation and testing of a handful of children one to six months old who were born in various hospitals in Israel, as well as in France. The babies suffered from acute liver insufficiency resulting in Jaundice, clotting difficulties, hemorrhaging, and loss of consciousness.  Prof. Elpeleg started to investigate the phenomenon after being approached by the hospitals that were treating the babies.  It emerged that all babies were born to families of Yemenite origin which pointed to a genetic problem.  She found that all had a common section of DNA containing over 20 genes, one of them involved in the biochemical problem in the liver. If two Jews of Yemenite origin who carry the defective gene marry, each of their children will have a 25% risk of being born with the defect.

Babies born with the defective gene suffer from sulphur deficiency in the liver, but given sulphur early in their lives could save them.

The Metabolic Genetic alignment at Hadassah serves as a national consultation and referral center for patients who suffer from severe life-threatening diseases. The physicians, researchers and lab technicians at Hadassah’s Department of Human Genetics and Metabolic Diseases share the knowledge on a daily basis, offering innovative treatments and looking for clues to understanding the genetic mechanism and finding the genetic mutations that cause the diseases.

During the last two years Prof. Elpeleg and her team discovered more than ten mutant genes.  These recent research findings were published in the prestigious American Journal of Human Genetics.

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