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In First, Down Syndrome Chromosome Turned Off


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In a finding that could pave the way for new treatments, scientists say they’ve found an “off switch” that can be applied to the extra chromosome responsible for Down syndrome.

Researchers reported Wednesday that they were able to silence the extra twenty-first chromosome in human stem cells in the laboratory. The finding, published in the journal Nature, offers the first evidence that it may be possible to suppress the genetic defect that causes Down syndrome.

“Our hope is that for individuals living with Down syndrome, this proof of principle opens up multiple exciting new avenues for studying the disorder now, and brings into the realm of consideration research on the concept of ‘chromosome therapy’ in the future,” said the study’s lead author, Jeanne Lawrence, a professor of cell and developmental biology at the University of Massachusetts Medical School.

More immediately, researchers say the development dramatically enhances the opportunities to learn more about Down syndrome. Compared to other disorders caused by a single gene, studying the impact of an entire extra chromosome has been much more difficult.

For the study, Lawrence and her colleagues looked at a RNA gene called XIST that’s typically responsible for turning off one of the two X chromosomes found in females. They strategically inserted the XIST gene into stem cells that were derived from an individual with Down syndrome. Doing so, effectively silenced the extra chromosome, the researchers said.

“We now have a powerful tool for identifying and studying the cellular pathologies and pathways impacted directly due to over-expression of chromosome 21,” said Lawrence who now plans to use her findings to investigate whether chromosome therapy can be effective in mouse models of Down syndrome.

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Comments (11 Responses)

  1. MsAmericanPatriot says:

    People should NOT be playing god. I do NOT think Sarah Palin would approve of this what so ever.

  2. Deb says:

    I have many friends who have Down Syndrome. They’re cool peeps, proud of who they are and I’m happy to be in their circle of friends. None of them are “defective”. They don’t need their chromosomes fixed.

    Scarey … do these researchers aims to eliminate Down Syndrome in the future? That’s not the answer. Our differences are the very things that bring us closer. Like MsAmericanPatriot said, people should not be playing God. I honestly don’t give a hoot if Sarah Palin the politician would agree or not, but I hope Sarah Palin the proud mom stands against this!

  3. Elizabeth says:

    And when did Ms Palin’s opinion become relevant to research?
    She is not god nor is she the queen of Down syndrome.

  4. Marian DeSimone says:

    I have many friends who have Downs Syndrome. Having down’s Syndrome does not make them who they are. If we can alleviate the issues that accompany the extra chromosomes ( heart conditions, predisposition to Leukemia, neck issues etc) why would we not see this as a positive. This is NOT going to change who they are.

  5. Margaret Hutzel says:

    I cannot believe you don’t seem to be aware of person-first language at Disability Scoop and Dwon syndrome is not a defect its a difference.

  6. cara hilbig says:

    I know many people with down syndrome as well. I also don’t think we should be in the business of fixing people, but the people who have down syndrome would probably rather not cope with the above mentioned symptoms not to mention the early onset of dementia that often accompanies down syndrome. As a parent I would have to seriously consider this type of therapy.

  7. MsAmericanPatriot says:


    She is a political figure whose life has been touched by someone who has Down Syndrome. Her son Trig has it. So it makes her knowledgeable about it to some degree. It would be nice to know her thoughts as to whether or not she would do it to Trig.

  8. Patricia Chandler says:

    Sadly, because there is no Ethics and Morals Oversight Cmtt. in the Health, Wellness Scientific industries, we will continue being Guinea pigs for profit. Who obtained this subjects consent for Her chromosome?

  9. mag raine says:

    A Question… what does it mean they can turn it off? Invitro or after birth? what exactly gets turned off?

  10. Elizabeth says:

    For Ms patriot – many of us have children with Down
    Syndrome. Simply becaus ms Palin has a child and is a political
    commentator does not give more weight to her opinion.
    With respect to experience with Down Syndrome,
    I’ve got some twenty six more years experience in the
    field of parenting and politics. And her shadow is larger
    because: she resigned as governor? Or she lost the race
    for vice president? Or because she’s sometimes a commentator
    On television? I wish her well as a parent, but her credentials
    in research are profoundly limited.

  11. Michelle says:

    Thank you for your hard work in learning about and developing options for parents and families caring for their child with Down syndrome. When I was told my child would have Down syndrome – I had three options: delivery, termination or adoption. It was a challenging time. 92% of woman abort. Maybe they wouldn’t if there was another option. My child is 6 months old and fortunately very healthy. I love my son very much and I would want to know that I researched every avenue possible as I make decisions for him that will effect his entire life. The decision is ultimately up to our individual families to decide for our child. All our children are different. Much love to all.

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