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Researchers claim Down syndrome breakthrough

Discovery may pave the way for 'chromosome therapy'

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  • Peter Jesser Smith for National Catholic Register
  • United States
  • July 26, 2013
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Scientists have unlocked a new discovery in Down syndrome research that could lead to revolutionary new therapies, and even offer hope of an option instead of abortion for mothers who find out their child has Down syndrome.

Researchers at the University of Massachusetts Medical School have pioneered a way to “silence” the activity of the extra chromosome that causes Down syndrome. The discovery paves the way for new research and even opens up the possibility of “chromosomal therapies” for individuals with Down syndrome in the future.

“This is a whole new approach to understanding what goes wrong in Down syndrome cells,” said Dr. Jeanne Lawrence, who led the research team at UMass Medical. “It opens up multiple avenues for research.”

A human being generally has 23 pairs of chromosomes, but an individual with Down syndrome has a third chromosome, a condition called “trisomy.” In the case of Down syndrome, it is an extra chromosome 21. The extra chromosome creates a metabolic imbalance in the body that generates intellectual disability, and in some cases presents physical challenges such as heart defects, leukemia and dementia later in life.

But a whole new array of research and potential therapies — even on the chromosomal level — has opened up with the groundbreaking findings of Lawrence’s team, published in the scientific journal Nature. They found a way to shut down the activity of the extra chromosome 21 by placing a special gene called XIST, on top of it.

Full Story: New Scientific Discovery May Hold Key to Saving Infants with Down Syndrome 

Source: National Catholic Register

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