Tags: down | syndrome | cure | questions

Cure for Down Syndrome?

Wednesday, 14 Aug 2013 11:06 AM

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Massachusetts scientists' recent announcement that they’d made a breakthrough in the lab that could point the way to a cure for Down syndrome has rocked many families of individuals who have the condition and led to serious soul-searching for patient advocates, according to an NBC News report.
 
Hailed as a "cure in a Petri dish," scientists at the University of Massachusetts Medical School said last month they have been able to silence the chromosome that causes trisomy 21, also known as Down syndrome. The breakthrough indicates it may be possible to switch off the genetic material responsible for the condition that causes cognitive delays, heart defects, and shortened lifespans.
 
The development could lead to new treatments for problems caused by Down syndrome, but also raises the prospect of eliminating the condition entirely. 
 
But Brian Skotko, M.D., a medical geneticist and co-director of the Down Syndrome Program at Massachusetts General Hospital, said the breakthrough has sparked a firestorm of reaction among parents, advocates, ethicists and people with the condition.
 
"This research really launches a million questions," Dr. Skotko told NBC.
 
Jawanda Mast, whose 14-year-old daughter, Rachel, was born with Down syndrome, said the discovery has left her with mixed emotions.
 
"I couldn’t love her more, but I would give almost anything to take away that extra chromosome," the Olathe, Kansas, mom wrote on her blog.
 
But she also told NBC News: "It's so hard to imagine you could actually do that. Yes, I would take away the challenges, I would take away the health risks. But now I also stop and say, 'Oh my goodness, how would that impact the rest of her?' "
 
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