The scientific world is abuzz this week over a recent announcement from researchers at the University of Massachusetts Medical School that they believe they found a way to “switch off” the extra chromosome that causes Down’s Syndrome.
The Daily Mail is reporting that the new therapy, which is still years away from use in humans, involves the use of a natural gene called XIST which “turns off” one of the two X chromosomes found in female embryos. Researchers discovered that the same gene can be used to silence the extra copy of chromosome 21that is found in people with Down’s syndrome.
This extra chromosome causes moderate to severe learning disabilities as well as a propensity toward heart defects, thyroid problems, blood disorders and early onset Alzheimer’s disease.
“The research means that we have a new way – right away – to study the cellular basis for Down’s Syndrome, that could help identify drugs for Down’s Syndrome,” said lead researcher, Dr. Jeanne Lawrence, to BBC News.
“At the same time we have made it conceivable – not necessarily possible or effective, that still needs to be proven – but conceivable, that you could use just a single gene to correct the over-expression of the whole chromosome. So it makes genetic therapy for Down’s syndrome more conceivable where it really wasn’t before.”
Carol Boys, chief executive of the Down’s Syndrome Association, is excited about the research.
“The findings could have serious implications for future work that may be of real benefit to people with Down’s Syndrome,” she said.
“We are a very long way from understanding how these findings might translate into clinical applications but it could be that they will be of great assistance in the search for conventional treatments for some of the health conditions that affect people with Down’s syndrome.”
Once perfected, this therapy will save millions of lives as an estimated 90 percent of babies diagnosed in utero with Down’s syndrome are aborted.
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