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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.
  • Practicality? (Score:3, Interesting)

    by APE992 (676540) on Wednesday July 17, 2013 @11:52PM (#44314903) Journal
    Assuming we could silence the extra chromosome in an entire human being what sort of results would we see? I'm curious to see the changes that would occur over weeks if not years. Could it reverse the neurological issues?
    • by quenda (644621) on Wednesday July 17, 2013 @11:59PM (#44314927)

      Could it reverse the neurological issues?

      Hard to say until the animal trials are complete. So far Algernon is doing well.

    • 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.

      • Actually.... (Score:5, Interesting)

        by Anonymous Coward on Thursday July 18, 2013 @12:52AM (#44315079)

        It could also potentially help curb many of the plaque related neural issues (I think it was mentioned on slashdot years ago that Down syndrome had plaque buildup similiar to alzheimers.) Assuming this chromosome is in part responsible for that plaque buildup, it might allow more Down syndrome sufferers to continue functioning at their current level rather than degrading further in the future.

        Regardless, anything that moves forward the treatment of disease in the world is good research.

      • Re:Practicality? (Score:5, Interesting)

        by Richard Dick Head (803293) on Thursday July 18, 2013 @01:04AM (#44315123) Homepage Journal
        Well, if you'll put on your cyncial hat, the in-utero treatment you wish for already exists:

        plannedparenthood.com [plannedparenthood.com]

        Some of these treatments coming out really make me worry for the future. Random mutations make their way in a consistent fashion into the human gene pool, and stuff like this prevents them from being filtered out. As cool as this would be *now*, given enough generations these mutations will disburse (ever wonder why so many people have blue eyes?) and eventually the entire human race becomes diseased and enslaved to these treatments.

        I mean, come on...if you subsidize something, you get more of it. if it isn't strong and healthy, throw it out and pump out a new one. Its not like we're suffering a worldwide shortage of semen at the moment!

        And before I hear one more sob story about how great "X" family member was and how they had the disease, let me remind you that our tax dollars are subsidizing the situation (many many times more than a regular child for special needs care)...yes, people feel the warm fuzzies when they encounter a less capable people who deals with their situation in a positive fashion, but that doesn't make it right, or proper.

        I don't know, am I just too cynical? I think at a certain point you're gonna get a test result back and either you do the right thing, or you elect to have a human pet that is a drain on society (but nice for you). I think that stinks. Look around, we're already busting at the seams because there is less and less meaningful work for someone who falls below a certain point on the bell curve, and its getting worse as time goes on.
        • Re:Practicality? (Score:5, Interesting)

          by ShanghaiBill (739463) on Thursday July 18, 2013 @01:52AM (#44315267)

          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. At least half of those people are apparently hypocrites, willing to make an exception for their own convenience.

          Citations:
          http://www.gallup.com/poll/1576/abortion.aspx [gallup.com]
          https://en.wikipedia.org/wiki/Down_syndrome#Abortion_rates [wikipedia.org]

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

            by Zembar (803935) on Thursday July 18, 2013 @01:57AM (#44315285)

            That's not necessarily true. What if those 20% were all men, for instance?

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

              by ShanghaiBill (739463) on Thursday July 18, 2013 @02:21AM (#44315357)

              That's not necessarily true. What if those 20% were all men, for instance?

              Polls have found that gender makes little difference in support/opposition to abortion. Support is only slightly stronger among women, and even then, only among educated women. If you had bothered to read the citations provided, you would already know this.

              It is also unlikely that most decisions to abort a DS fetus are made unilaterally by only the mother.

          • Re: (Score:3, Insightful)

            by Anonymous Coward
            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.
            • by Wild_dog! (98536)

              Not if you don't believe in medical care, but in general everyone gets a screening test so they know if the baby is viable or has any number of problems.

              • Not if you don't believe in medical care, but in general everyone gets a screening test so they know if the baby is viable or has any number of problems.

                I don't know if that's true, we had to elect to get the screening done.

                • by Wild_dog! (98536)

                  Yes you are right that the test is optional, but so are all medical things. People need to say yes before anything can be done in most cases. You have to choose to have ultrasounds, take prenatal vitamins, go to the hospital to have the baby. People Opt in to most of the recommendations their doctors give them since doctors are paid for their up to date expertise in their discipline.

                  In my experience most women chose to have the screening done since it is a simple blood test. When most ask what the tests are

                • by Picass0 (147474)

                  Correct. It is something you can elect to do. It involves sticking a huge damn needle through the mother's stomach. That alone prevents many tests from occuring and will be one of the obsticles to this gene therapy's future potential.

          • 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: (Score:3, Insightful)

              by BLKMGK (34057)

              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: (Score:2, Insightful)

                by An dochasac (591582)

                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 fac

                • 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"?

                • Anti-life suffers from the same problems. Let's say I want 3 children. If the first one is born with some disability that costs more time, energy, and resources than I can afford for the next two children I wanted, you've now prevented the birth of two healthy children so that one disabled one can live. One child that I do not want. Who now is anti-life? I could spin it as pro-prevent-healthy-babies-from-ever-being-born.
                • by sjames (1099)

                  Well, lets see if it fits starting with the anti-choice crowd. Do they want any woman to choose abortion? No they do not. Do they want it to be legal for any woman to choose abortion? No, they do not.

                  Now the 'anti-life'. Do they want any women to choose to carry a baby? Sure, it's a free choice. Do they want it to be legal for a woman to choose to carry a baby? Certainly.

              • by azcoyote (1101073)
                There's no such thing as a neutral term. There is only politics. The above poster was actually conscientious by using the most negative terms for both sides: "anti-life" and "anti-choice," because one side fashions itself "pro-choice" and the other "pro-life." But because of politics, in the media the dominant language used favors one side over the other: "pro-choice" and "anti-abortion." They group pro-lifers along with terrorists who bomb abortion clinics. This is like saying that Martin Luther King Jr. b
              • and they certainly don't try to force it on others

                I've read about pimps forcing their women to have abortions, to get them back on the street quickly.

            • 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!

              That is absolutely horrible, and a terrible unnecessary period of worry in your life. I'm happy everything worked out for you.

              ortunately 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.

              Eugenics? Really? It's not like these people are aborting fetuses because they don't have blue eyes, or aren't going to be tall enough to play in the NBA. This is a serious health condition. A child with Down Syndrome will not only be a terrible burden on their parents, it's also a child that will never have the opportunity to lead a normal life. I absolutely love my parents, a

              • This is a serious health condition.

                Yes and no. The effects are obviously serious, and people with Downs are more prone to heart trouble, but other than that most of them don't have any serious on-going health problems that require medical care.

                A child with Down Syndrome will not only be a terrible burden on their parents...

                The burden is about like having a perpetual four-year-old. My wife's brother has Down's; he lives with her parents. They certainly don't regard him as a terrible burden.

                Why bring some

                • Yes and no. The effects are obviously serious, and people with Downs are more prone to heart trouble, but other than that most of them don't have any serious on-going health problems that require medical care.

                  I consider the mental disability to be a serious health issue.

                  This seems like an unreasonably high bar to set. Experiencing life as fully as possible, depending on one's limitations, is presumably preferable to not experiencing life at all. Ask a blind or deaf person.

                  How about asking a blind or deaf person if they're not experiencing life to the fullest. Their life has additional challenges, but they can and do lead completely independent lives. The comparison really doesn't hold up.

                  • I consider the mental disability to be a serious health issue.

                    Sure. It's serious, and it's a disability, but it's not an ongoing threat to their health.

                    How about asking a blind or deaf person if they're not experiencing life to the fullest. Their life has additional challenges, but they can and do lead completely independent lives. The comparison really doesn't hold up.

                    How about ask a Down's person if they're not experiencing life to the fullest? Point being: disabilities do create limitations, but they

                  • by marklark (39287)

                    Of all the people that I've seen with DS, only one of them has been an "angry" person. Most have been among the happiest people that I've ever met.

              • ortunately 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.

                Eugenics? Really? It's not like these people are aborting fetuses because they don't have blue eyes, or aren't going to be tall enough to play in the NBA. This is a serious health condition.

                Eugenics (\yü-je-niks\) is the bio-social movement which advocates practices to improve the genetic composition of a population, usually a human population.
                Eugenics needn't be about the NBA or eye color. Down syndrome tests and abortions have cleansed future generations of a particular kind of people. People who are typically gentle, loving and incapable of lying.

                A child with Down Syndrome will not only be a terrible burden on their parents, it's also a child that will never have the opportunity to lead a normal life. I absolutely love my parents, and was lucky to have a great childhood under their love and care. Still, the happiest days of my life involved leaving them...

                The happiest days of your life. Surely you don't believe you have the only valid kind of happiness?

                Why bring someone into the world that will never be able to experience life to the fullest?

                Frankly, in my position, a 1 in 40 chance would be more than enough to justify an abortion, if that was all the information that could be gotten...

                What about the 1 chance in 80 of givin

          • by Dcnjoe60 (682885)

            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. At least half of those people are apparently hypocrites, willing to make an exception for their own convenience.

            Citations:
            http://www.gallup.com/poll/1576/abortion.aspx [gallup.com]
            https://en.wikipedia.org/wiki/Down_syndrome#Abortion_rates [wikipedia.org]

            Those two statistics are totally unrealated as most DS fetuses come from parents with a genetic predisposition to DS and not the general population. So, you are extrapolating the behavior of small population to the whole population. That would be an invalid application of statistics and lead to false conclusions.

            With regards to a child with a disability, it's a lot like schroedinger's cat, you don't know what you will do until you are faced with the situation (or open the box, so to speak). You will also fi

          • by bjwest (14070)

            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...

            It's more interesting that you are comparing 90% of diagnosed DS fetuses being aborted with 20% of the American population, and calming that half of the 20% are hypocrites because they think that abortion should be illegal. Are you deliberately misleading the reader, or do you really believe the number of diagnosed DS fetuses is equal to the entire population of America?

            • The assumption he's making is that the set of parents who discover their child has Down's in-utero has similar views on abortion to the general population. That is to say, 20% of that group believes abortion should be illegal in all circumstances. But if 90% of the group ends up aborting, then at least half of the 20% that believes abortion should be illegal in all circumstances ended up acting in contradiction to their stated views. The flaw is in assuming that the set of parents who discover their chil
            • by N0Man74 (1620447)

              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...

              It's more interesting that you are comparing 90% of diagnosed DS fetuses being aborted with 20% of the American population, and calming that half of the 20% are hypocrites because they think that abortion should be illegal. Are you deliberately misleading the reader, or do you really believe the number of diagnosed DS fetuses is equal to the entire population of America?

              Are you trying to deliberately mislead the reader that you require a sample size of 100% in order to come to an accurate conclusion?

              Besides, if there isn't an even distribution between these two groups, and there is a correlation between people being willing to make exceptions and the possibility that they carry a DS fetus, doesn't that just further support his argument?

              • by bjwest (14070)

                Are you trying to deliberately mislead the reader that you require a sample size of 100% in order to come to an accurate conclusion?

                Besides the fact that the only known accurate conclusion is one based on a sample size of 100%, my requirement, if it existed, of that would in no way be misleading anyone. Leaving that aside, you cannot assume that the two groups are anywhere near evenly distributed and expect accurate results.

                Besides, if there isn't an even distribution between these two groups, and there is a correlation between people being willing to make exceptions and the possibility that they carry a DS fetus, doesn't that just further support his argument?

                No. His argument was that 10% of people whose fetuses were diagnosed with DS are hypocrites because they had an abortion even though they think abortions should be illegal. Again, leaving aside his flawed data, ha

          • by Golddess (1361003)

            At least half of those people are apparently hypocrites

            Um, the set of all Americans that have had a fetus diagnosed with DS is smaller than the set of all Americans. Even just focusing on women who have ever been pregnant, you can probably still have 20% of those women oppose abortion in all situations, and 90% of those woman that have had a fetus diagnosed with DS be ok with abortions, and not have any hypocrites.

            For example, take a group of 1,000 women that, at one point in time, have been pregnant. If 20% of them oppose abortion in all situations, that s

          • by iamacat (583406)

            You are assuming that more than half of tea partiers have brains to get prenatal treatment rather than just letting Jesus take care of them and their fetuses.

          • > 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. At least half of those people are apparently hypocrites

            That doesn't follow. There are about 6000 down syndrome births per year, or about 60,000 DS fetuses given your 90% abortion rate, so about 0.02% of Americans give have down syndrome pregnancies each year. Its quite possible for all the people that

        • Cynical is a good thing. It's the antidote to societal romanticism, which tells us that every disabled person is a unique and treasured snowflake full of love.

          There is an obligation in basic human decency to help those who need it. That doesn't mean we need to keep churning out more of them if we can help it.

        • As cool as this would be *now*, given enough generations these mutations will disburse (ever wonder why so many people have blue eyes?)

          Well not till you mentioned it, so I checked out of idle curiosity. Using carefully selected words for the search:
          how many people have blue eyes

          Blue eyes are indeed becoming less common in the world. One study showed that about 100 years ago,
          half of U.S. residents had blue eyes. Nowadays only 1 in 6 does. http://genetics.thetech.org/ask/ask355 [thetech.org]

          2% of the population has green eyes. It's the rarest eye color. 8% has blue, or a variation of blue like violet or grey.I guess the rest has brown or hazel. http://wik [answers.com]

        • by eyenot (102141)

          What's worst of all this, in my point of view, is that even when the syndrome is apparent in a person and that person is already being paid by the government for having a disability, and even when that syndrome is likely to be passed onto offspring ... ... it's still just peachy for them to have children. Two of them together, if they feel like it, though I've seen a lot of retarded guys slugging around with apparently healthy women. It must be very attractive to some women to see that steady, uninterrupted

        • Your disregard for the value of human life, an especially people who are different than you, is most alarming. I am a STAUNCH pro-choice supporter yet I find your attitude both selfish and offensive.

          if it isn't strong and healthy, throw it out and pump out a new one. Its not like we're suffering a worldwide shortage of semen at the moment!

          This proves that you have no concept of how difficult it is for some people to conceive, how important it is to them, or the struggles they face when dealing with these kinds of issues, let alone how loved/treasured a potential life can be. I'm not sure if your comment comes from ignorance, greed, or misanthropy

        • by the gnat (153162)

          I think at a certain point you're gonna get a test result back and either you do the right thing, or you elect to have a human pet that is a drain on society (but nice for you).

          Classy. So, by the same logic, we should also euthanize stroke victims, Alzheimer's patients, and so on, lest they be a drain on society?

      • by c0lo (1497653)

        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

        Neuroplasticity [wikipedia.org] indicates there may be hopes.

    • Certainly not as practical as abortion and making a new baby, but, hey, we need to protect unborn life at all costs!

      • by marklark (39287)

        You're replaceable, too. Feel free to skip your next major medical procedure. Pass the savings on to your heirs.

    • by Dcnjoe60 (682885)

      Assuming we could silence the extra chromosome in an entire human being what sort of results would we see? I'm curious to see the changes that would occur over weeks if not years.

      Could it reverse the neurological issues?

      Considering that the technique involves inserting RNA into each cell, it is unlikely to possible to use on people who already have down syndrome. At best, if ever perfected and approved, it would be used in IVF techniques before the fertilized egg is implanted.

  • by Blugenes (2987347) on Thursday July 18, 2013 @12:03AM (#44314937)
    This sounds neat but will be very difficult to translate into practical applications. First there would likely be an extra chromosome in every cell in the body, so unless you can engineer a means to silence the additional chromosome in every cell of the body then this is either a partial or nonfunctional solution. Second there are means of having a Down Syndrome phenotype that involves an imbalanced translocation in which you effectively have two chromosome 21s attached to each other, this therapy would probably not work for those patients. And finally the XIST gene is talking about shutting down an entire chromosome, while this might work in a petri dish or lab animal this will be a therapy specifically designed to treat children. Will they have to be screened prior to conception? Will there have to be treatment in utero to make it effective? I commend the researchers on the effort but this whets the whistle, and given the paucity of research funding lately perhaps the main point of the article is to drum up support for more grants instead of relay practical discoveries.
    • by icebike (68054)

      Wasn't there a story recently on using the AIDS virus to induce dna changes in every cell?
      Could that be sufficiently precise?

      • by Blugenes (2987347)
        I wonder what would be more challenging, making the AIDS virus into a vector for gene therapy or trying to talk people into taking the new "therapy" itself. There would be quite the consent form and pre-trial counseling!
        • I wonder what would be more challenging, making the AIDS virus into a vector for gene therapy or trying to talk people into taking the new "therapy" itself.

          Actually the challenging part is getting it through the FDA, especially when the target population is small and unprofitable (relative to the billion-dollar cost of clinical trials). I posted the other day about a friend who worked in a lab where they cured Multiple Sclerosis in mice using an HIV vector to deliver the gene therapy. If you've ever met a

          • by the gnat (153162)

            The near future for US people will probably involve medical researchers migrating to friendlier jurisdictions and medical-tourism cruise ship vacations to route around the FDA damage.

            And it will also involve charlatans promising miracle cures to anyone desperate enough or dumb enough to fork over thousands of dollars for an unregulated and unverified medical procedure. I'm not a fan of what the FDA is doing in this specific instance - although I suspect you're overstating the case - but entities like that

            • but entities like that exist for a good reason

              Third-party certifications are a great idea. Forced monopolies on anything lead to misery and suffering. Conflating the two leads to people dying of actually curable diseases.

  • by zbobet2012 (1025836) on Thursday July 18, 2013 @12:03AM (#44314941)
    Oh god, the ethics debates on this one will be fantastic. What if we can reverse Downs Syndrome in full grown adults. By modern legal definitions those with it are not competent, but could we ethically force them to take the "cure" if they don't want to? What if a mother does not want to have it "fixed" in her unborn child, is she a competent parent?
    • I don't know if you can emit such a blanket statement as "...by modern legal definitions those with it are not competent..." There is debate about this, and at least here in Europe, those with it are more and more living their own lives. The 17-year old daughter of a colleague has it - and she is not only learning the trade of a baker: she is preparing to live alone, in an apartment in the middle of the city. She already manages her own money and her own relationship with various administrative bodies. With her father's support, but still - this would have been unthinkable even ten years ago.
      • by mjwx (966435) on Thursday July 18, 2013 @12:33AM (#44315031)

        There is debate about this, and at least here in Europe, those with it are more and more living their own lives. The 17-year old daughter of a colleague has it - and she is not only learning the trade of a baker: she is preparing to live alone, in an apartment in the middle of the city. She already manages her own money and her own relationship with various administrative bodies. With her father's support, but still - this would have been unthinkable even ten years ago.

        This is also happening in Australia.

        They are teaching people with disabilities to live on their own, not just in halfway houses but on their own, managing most of their own affairs. Some are down to 1 hour a week with social workers, stuff the cant take care of on their own they know to save for that time.

        A far cry from 40 years ago where kids with down syndrome were sterilised.

        • 40 years ago? You think it was stopped then? [smh.com.au]
        • by quenda (644621)

          A far cry from 40 years ago where kids with down syndrome were sterilised.

          They still are. When you have a young adult with raging hormones, but the mind of a three-year-old, it makes a lot of sense, and means you can allow them _more_ independence.

          • ( ... ) the mind of a three-year-old ( ... )

            I object against this, and wonder upon what fact material or research data you based this statement, which conforms more to general bias than to my personal observations. See my OP for first-hand empirical data. The girl I mentioned can take decisions on her own, and is actually preparing for taking a place in society, an undertaking she plans to fund by paid and skilled work. Most three-year-olds I know perform not so well :-)

            • by quenda (644621)

              See my OP for first-hand empirical data.

              One example is not empirical data, it is an anecdote, and a fortunate exception. Many kids with Downs never learn to read.
              But that does not mean they cannot have a sex life, however uncomfortable that might make some other people.

              So she has the mind of an 8 year old? ten? Do you think she is capable of bringing up children? What about the medical complications of pregnancy for a girl with that condition? And the 50% chance of the baby having Downs?
              Would that be ethical? Why should sterilization not be an

              • by Rockoon (1252108)
                Its apparently OK to abort a downs fetus, but not to sterilize a downs person.

                I'm not a pro-lifer, but the idiocy of it all...
      • Re: (Score:2, Funny)

        by Anonymous Coward

        Hell, she's doing better than me and I'm 35 with a bachelor's in Comp. Sci.

    • by EzInKy (115248)

      Probably would mostly depend on where you live and the pervading philosophical views of your peers. I'd say for the adult it would be optional but for the unborn it would be mandatory. Interesting how you didn't include the father in the "does not want to have it fixed" scenario. Does the owner of only half of the contributing genome wishes take precedence? If so, why?

    • by mjwx (966435)

      Oh god, the ethics debates on this one will be fantastic. What if we can reverse Downs Syndrome in full grown adults. By modern legal definitions those with it are not competent, but could we ethically force them to take the "cure" if they don't want to? What if a mother does not want to have it "fixed" in her unborn child, is she a competent parent?

      I dont think you'll get much of a debate from those with down syndrome.

      They are aware they are different, they are also acutely aware of how others treat them. They may not know how to use the word stigma, but they'd jump at a chance to have it removed.

      Same for a down syndrome parent, the debate is pretty much a moot point for anyone who's ever work with a down syndrome kid or adult, let alone a parent with a kid with down syndrome.

      Your big issue in reversing down syndrome in adults is that you'll

    • by DigiShaman (671371) on Thursday July 18, 2013 @12:34AM (#44315035) Homepage

      I'm not a geneticists.

      Of all the adults out there with Downs Syndrome, how many of them go on to get married and have children? Of those that have children, what is the likelihood of this abnormality being passed down the family tree? I'm not disputing their choice to procreate. I am however concerned that suppressing the extra chromosome will lead to healthy adults (which is very good), but also have normal procreating life and thus pass it down to the next generation (which is bad). Do we to to encourage adding severe genetic abnormalities to future generations if all were doing is suppressing them rather then removing/correcting said genes? For the sake of the human race, this requires serious consideration.

      • by Anonymous Coward on Thursday July 18, 2013 @01:14AM (#44315155)
        I actually had thought Down syndrome was not heritable and went to look for a reference... only to find that it is:

        Males with Down syndrome usually cannot father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals.[43] Women with DS are less fertile and often have difficulties with miscarriage, premature birth, and difficult labor. Without preimplantation genetic diagnosis, approximately half of the offspring of someone with Down syndrome also have the syndrome themselves.[43]

        from Wikipedia [wikipedia.org] ([43] is this research paper [nih.gov]).

      • by gringer (252588)

        Of all the adults out there with Downs Syndrome, how many of them go on to get married and have children?

        People with classical Downs syndrome (trisomy 21, the most common, and the one discussed here) are sterile -- they can't have children. One reason is that it's just too difficult to recombine and split three chromosomes two ways during meiosis.

        It is possible that someone with a partial syndrome could be fertile (i.e. a duplication of some portion of chromosome 21), but I don't recall any cases of this when it was discussed in lectures.

    • You should watch GATTACA
      • by fnj (64210)

        You should watch GATTACA

        "There is no gene for the human spirit", but there sure are genes that give the human spirit a bad time.

      • You should watch GATTACA

        Maybe everyone should stop using a lousy movie as a guide to real-world debates about medical ethics.

  • Sounds like this could be used to suppress the Y chromosome and change a female to a male. In other words, the collapse of several Asian countries obsessed with having male children.
    • ...except you don't get 2 X chromosomes by suppressing a Y, you get a child with one X and a suppressed chromosome, which sounds like a pretty complicated way to get a miscarriage.

  • I've often wondered why some people are more seriously affected with this syndrome than others. I've even heard someone calling it "mild trisomy" versus "severe trisomy".
    One hypothesis I developed (although IANAGeneticist) is that the fertilized egg was "normal" at the start, but after a number of mitoses (let's call that number K), one of the resulting cell ends up with an extra chromosome while the other is left short and dies. At the next mitosis, that trisomic cell replicates into trisomic cells unabash

I've never been canoeing before, but I imagine there must be just a few simple heuristics you have to remember... Yes, don't fall out, and don't hit rocks.

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