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Biotech Medicine Science

Scientists Silence Extra Chromosome In Down Syndrome Cells 230

Posted by samzenpus
from the possible-cure dept.
An anonymous reader writes "Scientists have silenced the extra copy of a chromosome that causes Down syndrome in laboratory stem cells, offering the first evidence that it may be possible to correct the genes responsible for the disorder. The discovery provides the first evidence that the underlying genetic defect responsible for Down syndrome can be suppressed in cells in culture."
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Scientists Silence Extra Chromosome In Down Syndrome Cells

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  • I approve (Score:5, Insightful)

    by bmacs27 (1314285) on Wednesday July 17, 2013 @11:50PM (#44314895)
    News for nerds. Stuff that matters.
  • Re:Practicality? (Score:5, Insightful)

    by MightyMartian (840721) on Thursday July 18, 2013 @12:07AM (#44314953) Journal

    Maybe some aspects of Downs could be reversed, but as many of the neurological and physiological aspects of the disorder are doubtless developmental, I can't imagine any substantial changes to a person already with the syndrome. The greatest hope, I imagine, is in utero treatment which would prevent the developmental aspects of Downs Syndrome from happening at all.

  • by tloh (451585) on Thursday July 18, 2013 @12:37AM (#44315049)

    The point? How about early intervention? Trisomy 21 is easily detected via procedures such as amniocentesis which are trivial to perform today. If you can catch the condition early, much of the developmental abnormalities that would have progressed unchecked in a normal Downs Syndrome baby could be nipped in the bud during fetal development. I'm not sufficiently experienced in this area to make dramatic claims. But I would venture a guess the earlier you can address the problem in the womb, the less severe the symptoms would be in an affected individual.

  • by Anonymous Coward on Thursday July 18, 2013 @03:19AM (#44315517)

    I take it that you've never had the pleasure of being around those with Down's. They are wonderful people and their brutal honesty is hilarious; they hold no punches when someone is in the wrong.
    Personally, I am against aborting them and FWIW I'm atheist.

  • Re:Practicality? (Score:3, Insightful)

    by Anonymous Coward on Thursday July 18, 2013 @05:09AM (#44315823)
    Are screening tests that pick up DS done for all pregnancies? If they aren't then maybe the discrepancy you see is because the people who think abortion is illegal are more likely to not do the DS screening tests during pregnancy.
  • Re:Practicality? (Score:5, Insightful)

    by An dochasac (591582) on Thursday July 18, 2013 @05:40AM (#44315901)

    Well, if you'll put on your cyncial hat, the in-utero treatment you wish for already exists: plannedparenthood.com [plannedparenthood.com]

    In America, about 90% of diagnosed DS fetuses are aborted. That is an interesting percentage, since polls indicate that more that 20% of Americans think abortion should be illegal under all circumstances.

    Since we're talking statistics, amniocentesis, the invasive test for Down Syndrome, has a 0.75% chance of ending the pregnancy so we opted for a lower risk combination of an ultrasound scan and blood test. The results (along with our age and other factors) gave a 1 in 40 (2.5%) chance of a baby with Down Syndrome. But the nurse who read the results to us didn't say once chance in 40 and she didn't say 2.5% chance. She said 40% chance! (Is mathematic literacy a medical training requirement.) Fortunately we did the tests merely to inform ourselves of what special preparation we might need to make. Abortion for eugenic purposes is not legal here in Ireland as it is in the US. Unfortunately this same nurse trained in Boston. Heaven only knows how many pregnancies were ended based on this. We're thankful for a healthy little boy who doesn't have Down Syndrome but we may all owe a debt of gratitude to people with Down Syndrome. Studying the characteristics of this syndrome may help us understand Alzheimers and studying the fact that cancer is much rarer in people Down Syndrome [sciencedaily.com] may help us understand and cure this terrible disease.

    The take no prisoners battle between the anti-life and anti-choice people have left us in a state of anti-science, anti-compassion and anti-love.

  • Re:Practicality? (Score:3, Insightful)

    by BLKMGK (34057) <morejunk4me@ h o t m ail.com> on Thursday July 18, 2013 @06:53AM (#44316175) Homepage Journal

    Anti-Life? Seriously?! Could you use a more charged term? Try Pro-Choice. Just because someone believes in the right to choose doesn't mean they will use it and they certainly don't try to force it on others unlike the group trying to ban abortion.

  • Re:Practicality? (Score:2, Insightful)

    by An dochasac (591582) on Thursday July 18, 2013 @07:36AM (#44316429)

    Anti-Life? Seriously?! Could you use a more charged term? Try Pro-Choice. Just because someone believes in the right to choose doesn't mean they will use it and they certainly don't try to force it on others unlike the group trying to ban abortion.

    Yes I deliberately used a term that was just as charged as the common "anti-choice" term that you've heard so much on news media and in pop political-culture, you're immune to the fact that it's an equally charged term.

    The phrase "Pro Choice" is not descriptive. (Pro choice about what? iPod vs Android, Republican vs Democrat?, Beans vs Carrots?) Nor does the phrase "Pro Choice" accurately describe the plight of women in places where abortion is not only permissible, it is mandatory. It also ignores the fact that there are pro-abortion individuals (abusive boyfriends/husbands/parents) who are decidedly against giving a woman the choice to let her unborn child live.

  • Re:Practicality? (Score:4, Insightful)

    by gumpish (682245) on Thursday July 18, 2013 @10:22AM (#44317975) Journal

    Yes I deliberately used a term that was just as charged as the common "anti-choice" term that you've heard so much on news media and in pop political-culture ... The phrase "Pro Choice" is not descriptive. (Pro choice about what? iPod vs Android, Republican vs Democrat?, Beans vs Carrots?)

    This smacks of intellectual dishonesty. When you hear a politician describe themselves as "pro-choice" do you actually find yourself confused as to what issue they're referring?

    As to the question of descriptiveness, "pro-life" is decidedly less descriptive than "pro-choice". People who identify as pro-choice support the idea that women should be able to choose whether or not to terminate their pregnancy. People who identify as pro-life don't oppose ALL deaths. (In fact I suspect the majority of them support capital punishment, at least here in the U.S.) They are specifically opposed to abortion so their position is more accurately described as anti-abortion. "Anti-choice" is lacking since that term could be used to describe someone who supported mandatory abortions. (But then I personally haven't heard that term "on news media and in pop political-culture".)

    Nor does the phrase "Pro Choice" accurately describe the plight of women in places where abortion is not only permissible, it is mandatory.

    Who exactly is claiming that regions with mandatory abortions are "pro-choice"?

The secret of success is sincerity. Once you can fake that, you've got it made. -- Jean Giraudoux

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