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Scientists Silence Extra Chromosome In Down Syndrome Cells

samzenpus posted 1 year,12 days | from the possible-cure dept.

Biotech 230

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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230 comments

I approve (5, Insightful)

bmacs27 (1314285) | 1 year,12 days | (#44314895)

News for nerds. Stuff that matters.

Re:I approve (5, Funny)

Russ1642 (1087959) | 1 year,12 days | (#44316939)

When the admins find a story that applies directly to them they can't help but post it.

Re:I approve (1)

Anonymous Coward | 1 year,12 days | (#44317099)

just because um because you don't see the
just because you aren't different doesn't mean people can't be um
just um you don't have to be so mean

Practicality? (3, Interesting)

APE992 (676540) | 1 year,12 days | (#44314903)

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?

Re:Practicality? (5, Funny)

quenda (644621) | 1 year,12 days | (#44314927)

Could it reverse the neurological issues?

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

Re:Practicality? (3, Funny)

Dexter Herbivore (1322345) | 1 year,12 days | (#44315205)

I'll make sure to get him some flowers and a get well soon card then.

Re:Practicality? (5, Insightful)

MightyMartian (840721) | 1 year,12 days | (#44314953)

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.... (5, Interesting)

Anonymous Coward | 1 year,12 days | (#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:Actually.... (0)

cffrost (885375) | 1 year,12 days | (#44315165)

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.

The chromosome isn't what's responsible for the plaque buildup; it's the sheer number of them that are awarded to competitors in the Special Olympics.

Re:Practicality? (5, Interesting)

Richard Dick Head (803293) | 1 year,12 days | (#44315123)

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? (5, Interesting)

ShanghaiBill (739463) | 1 year,12 days | (#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? (4, Interesting)

Zembar (803935) | 1 year,12 days | (#44315285)

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

Re:Practicality? (3, Interesting)

ShanghaiBill (739463) | 1 year,12 days | (#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:Practicality? (3, Insightful)

Anonymous Coward | 1 year,12 days | (#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? (2)

Wild_dog! (98536) | 1 year,12 days | (#44315839)

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.

Re:Practicality? (2)

IndustrialComplex (975015) | 1 year,12 days | (#44316835)

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.

Re:Practicality? (4, Insightful)

An dochasac (591582) | 1 year,12 days | (#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? (2, Insightful)

BLKMGK (34057) | 1 year,12 days | (#44316175)

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? (2, Insightful)

An dochasac (591582) | 1 year,12 days | (#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? (0)

PmanAce (1679902) | 1 year,12 days | (#44316737)

I don't know what you are smoking but "Pro-Choice" is perfectly descriptive. It denotes concisely the choice a woman should have with her body and this is coming from someone who was almost aborted, I was given up for adoption instead at birth. "Anti-Choice" sounds like the government trying to control what a woman can and can't do with her own body. I won't even go into "Anti-Life", something only coined in societies where everything is seen black or white, right or left, democrat or republican...sound familiar? The question is also deeper, if you are "Pro-Choice", when do you establish the cut-off date, before the brain forms? I just want the women to have the right to decide to abort in cases where rape is involved for example, nobody in their right mind should be forced to keep and raise a baby conceived from a rape (imagine a father raping her daughter).

Re:Practicality? (2)

azcoyote (1101073) | 1 year,12 days | (#44316863)

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. belonged to the Black Panthers.

Certainly it's not fair to call pro-choice "anti-life," but neither is it fair to call pro-life "anti-abortion" or "anti-choice." Pro-choice advocates are not fighting for death but for freedom. But pro-life advocates are not fighting against freedom, but for human dignity--for a child who does not choose to die. So what's in a name? A rose by any other name would smell just as sweet, but politics decides which roses should be considered sweeter.

Re:Practicality? (1)

TrekkieGod (627867) | 1 year,12 days | (#44316641)

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, and was lucky to have a great childhood under their love and care. Still, the happiest days of my life involved leaving them to carve my own little place in this world we live. This freedom to be 100% self-sufficient and to have the normal social interactions most of us take for granted is part of what I consider to be the human experience, and it's something a person with Down Syndrome can never have. 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. Thankfully it's not, so that 1 in 40 chance would simply be enough to justify the risks associated with amniocentesis, which according to recent studies may actually have a risk of ending the pregnancy as low as 0.06% (previous studies included the parents' decision to abort a baby based on the test results in the statistics for ending the pregnancy, so it wasn't just complications due to the procedure). Then you can find out for sure, and make a more informed decision.

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 may help us understand and cure this terrible disease.

And we owe the holocaust for a great many medical advances, thanks to the unethical experiments done on the Jewish prisoners. It doesn't justify the suffering. Similarly, I don't think the gains you are speaking of justifies the burden on the parents or the child that has to live with Down Syndrome.

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.

And there it is. "Anti-life"? You've started this post under the pretense of talking statistics, but I don't think this is about statistics at all. 1 in 40 isn't enough in your eyes to justify an abortion, but is there any number that would be sufficient? If you knew with 100% certainty that a child would have Down Syndrome, I suspect you would still think it's wrong to perform an abortion. So who exactly is being anti-science? And do you not lack compassion for the parents with your position?

Re:Practicality? (2)

buddyglass (925859) | 1 year,12 days | (#44316981)

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

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.

Re:Practicality? (2)

TrekkieGod (627867) | 1 year,12 days | (#44317095)

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.

Re:Practicality? (2)

Dcnjoe60 (682885) | 1 year,12 days | (#44316221)

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 find that many of these couples that terminate their pregnancy also get themselves sterilized to prevent future pregnancies.

So, like rape and incest, using down syndrome and abortion as a generalization for the population as a whole is a statistically invalid application.

Re:Practicality? (0)

Anonymous Coward | 1 year,12 days | (#44316285)

I live in a place where abortion is completely legal, no justification required. It's something women keep secret and when I was pregnant as a teenager I never even considered it (couldn't bear the thought) but there aren't any laws stopping us, just our own conscience.

I recently did the blood hormones plus scan test and received a 1 in 200 risk of Down syndrome, similar to the risk of losing a baby through amnio.

I did the amnio. It hurt and I was scared (and I had to take time off work) but I knew I wouldn't be able to rest until I knew.

I was really surprised how supportive my family (and my partner's very bossy Christian family) were about the possibility of terminating if the baby ended up having Down syndrome. I thought I was going to have to mumble something to everyone about "losing the baby" but everyone naturally understood that I'm too neurotic to ever be able to provide a loving home to a child with this kind of problem. When I was a little girl and as I grew up I watched a lady whose son was in his 20s when I met them, struggling with him as he grew older but no smarter as she grew older and less able to control him. She had no options at the time and has done a great job of course but we do have options now.

If I thought it could be medically treated, maybe I'd be willing to give it a go. I don't know. At the moment it's just the luck of the draw how mentally impaired your kid is and that's not good enough for me, or as it turns out, for my family or 90% of Americans.

We've had babies born with problems, my cousin has a congenital heart condition and was treated many times as a child, but Down syndrome is different.

Re:Practicality? (-1, Flamebait)

jabuzz (182671) | 1 year,12 days | (#44316537)

The reason is that when actually faced with the prospect of bringing a DS child they are forced to properly consider the issues around abortion and change their minds.

The problem with most anti-abortion thinking is that it is based on Christian thinking and is intellectually bankrupt.

For example take one of the standard retorts of Jeremiah 1:5, (basically God claims to have known you in the womb), So ignoring the fact that most pregnancies end in spontaneous abortions without the mother even being aware, what about all those anencephaly fetuses (1 in 10000 births) because without any cerebrum they are incapable of ever achieving a conscious existence? I would really like to know how God knew such a person, and how an abortion can possibly be considered killing a human? Personally I consider people saying that aborting an anencephaly fetuse is wrong are evil bastards that deserve to burn in hell.

Suffice as to say I using any piece of scripture as an argument against abortion will allow me to make you look like an idiot spouting scripture without remotely understanding it.

For the record I consider the idea of aborting healthy fetuses that where not conceived through violence as wrong.

Re:Practicality? (2)

bjwest (14070) | 1 year,12 days | (#44316599)

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?

Re:Practicality? (1)

buddyglass (925859) | 1 year,12 days | (#44317029)

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 child has Down's in utero has similar views on abortion to the general population.

Re:Practicality? (-1)

Anonymous Coward | 1 year,12 days | (#44316925)

Abortion should only be illegal if the foetus is female.

Re:Practicality? (2)

SuricouRaven (1897204) | 1 year,12 days | (#44315299)

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.

Re:Practicality? (1)

Trax3001BBS (2368736) | 1 year,12 days | (#44315743)

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://wiki.answers.com/Q/How_many_people_in_the_world_have_blue_eyes [answers.com]

Approximately 8% of the world's population has blue eyes http://www.funtrivia.com/askft/Question79523.html [funtrivia.com]
which references http://en.wikipedia.org/wiki/Eye_color#Blue [wikipedia.org] that makes no such claim.

8% is the answer most often given.

As for the mutation for blue eyes.
According to a team of researchers from Copenhagen University, a single mutation which arose as recently
as 6-10,000 years ago was responsible for all the blue-eyed people alive on Earth today.
http://www.dailymail.co.uk/sciencetech/article-511473/All-blue-eyed-people-traced-ancestor-lived-10-000-years-ago-near-Black-Sea.html [dailymail.co.uk]

Re:Practicality? (1)

Anonymous Coward | 1 year,12 days | (#44315797)

> 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

It never ceases to amaze me that some people can so openly and proudly view the world through money-tinted glasses. Everything, absolutely everything, has to be boiled down to a monetary cost/benefit analysis. Here we see the ultimate example; the cost/benefit of a human life. Downs Syndrome people are, apparently, too expensive to live. I thought we geeks were supposed to be better than the short-sighted, bean-counting PHBs..?

Shame on you.

Re:Practicality? (1)

Nos. (179609) | 1 year,12 days | (#44317067)

That's a really cold way to view things.

Yes, maybe we don't want to "pollute the gene pool", but what's wrong with coming up with effective treatments and at least allowing people with genetic disorders a chance at a normal life.

I suspect you don't have anyone in your life with a condition on this kind of scale.

Re:Practicality? (1)

eyenot (102141) | 1 year,12 days | (#44317179)

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 income guaranteed for life, and to jump for it.

At any rate, whether we "fix" it for a developed person or not, unless there's some rule against it, they're still going to have kids. They and their disabled children are still going to represent a demand for other peoples' money. The world is still going to creep towards an unsustainable population and they're still going to just lazily slug slide right on through all of it with little to no cares or worries.

Re:Practicality? (1)

c0lo (1497653) | 1 year,12 days | (#44315199)

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.

Re:Practicality? (1)

Seumas (6865) | 1 year,12 days | (#44315113)

I wonder what the reaction would be, socially. I mean, when people correct deafness or blindness, they are often attacked by the blind and deaf communities.

Re:Practicality? (1)

aaaaaaargh! (1150173) | 1 year,12 days | (#44315459)

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

Re:Practicality? (1)

Dcnjoe60 (682885) | 1 year,12 days | (#44316149)

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.

Even if it does... (0)

Anonymous Coward | 1 year,12 days | (#44314909)

Even if it does fix the gene, would it turn an already born child from retard into normal? Otherwise, I fail to see the point.

Re:Even if it does... (-1)

Anonymous Coward | 1 year,12 days | (#44314919)

If we inject into your ass, does cum come out of your left ear? Perhaps not, but we could hope!

Re:Even if it does... (4, Insightful)

tloh (451585) | 1 year,12 days | (#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.

Re:Even if it does... (4, Informative)

swamp_ig (466489) | 1 year,12 days | (#44315239)

By the time you've had amniocentesis to diagnose the disorder, the damage is already done.

Development has largely happened by the 12-14 weeks at which point amniocentesis is viable, from there on it's really just growing with a few bits of finishing off.

Unfortunately the only 'cure' for downs is to terminate the pregnancy when it's detected. In fact a considerable percentage of affected pregnancies end in miscarriage anyhow.

Re:Even if it does... (2)

SuricouRaven (1897204) | 1 year,12 days | (#44315277)

But we already have a treatment: The prenatal test for downs is reliable, usually noninvasive (Amniocentris is used only to confirm an ultrasound result) and early in pregnancy. If you get a dud, discard and try again.

The only problem comes from the religious people who believe everything with a human genome is magical or sacred.

Re:Even if it does... (3, Insightful)

Anonymous Coward | 1 year,12 days | (#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:Even if it does... (5, Interesting)

Anonymous Coward | 1 year,12 days | (#44315947)

(different AC here)
I get the impression that GP has never gone through the process of trying to conceive, or the high emotions and huge decisions of pregnancy. This isn't 3D printing we're talking about. For many people it's not as simple as "scrap this one and start over." A couple's fertility is unpredictable, riddled with limitations and risks, and it's a lucky minority that conceives first time, every time.

Imagine you're a couple trying to conceive. You thought you'd get pregnant easily, just when it fitted conveniently into your life schedule (everyone thinks that). You weren't young when you started, but not too old either - late twenties is more the norm than the exception these days. Anyway, it took longer than you thought. By now you've been trying to conceive for years. Maybe you've had a miscarriage or two. Doctors cant see what the problem is, as is often the case with reproductive medicine: Everything looks fine down there, but it just ain't happening. IVF is prohibitively expensive, and still offers no guarantees. At first your failure to conceive was an irritation, a disappointment. Now it's more than that. Time is ticking on and your body is screaming at you to have a baby nownownow, and there are reminders everywhere of the one thing you want but apparently can't have. It's starting to affect your happiness, your marriage, maybe even your mental health. This is not science fiction, this is a situation a lot of people find themselves in nowadays in western society.

Finally, as you approach your mid-thirties you get pregnant. Your are ecstatic, delighted, happier than you've ever been. Then, the tests show Downs.

If you abort and try again, it could take another 5 years to get pregnant again, if at all. Do you really want to be conceiving at 38 or 39, when the chances of Downs or some other, even more severe complication, will be even higher? Do you really want to be 40 and pregnant? Do you really want to be nudging 60 when your kid hits adolescence? What if you can't conceive ever again? What if this is your only chance? "Scrap it and try again" or "abort and adopt" may be viable options, but they do not by any means represent an obvious or easy choice for someone in that position.

I'm not entirely opposed to abortion. I think it's a very personal choice, and a morally difficult issue. I don't believe a microscopic zygote is as much a human being as an adult or a newborn or a 25-week foetus, but I do realise that any hard line drawn between "cluster of cells" and "person" will be arbitrary and ultimately unsatisfactory.

The point I'm drifting away from here is that even in cases where it is unwanted, a pregnancy is a very precious and special thing, and should not be discarded lightly. In cases where it is wanted, it is even harder to "scrap it and start over."

Re:Even if it does... (2)

BLKMGK (34057) | 1 year,12 days | (#44316211)

Well said and a good counterpoint.

Re:Even if it does... (1)

Dracolytch (714699) | 1 year,12 days | (#44317081)

Well said. I have had family that worked in infertility, trying to help people get pregnant. These are REAL scenarios that people face every day.

Re:Even if it does... (1)

SuricouRaven (1897204) | 1 year,12 days | (#44315957)

'From the mouths of babes' is only endearing when it comes from an actual child.

Re:Even if it does... (1)

tloh (451585) | 1 year,12 days | (#44315521)

But we already have a treatment:

I think you mean diagnosis, right? :-) Not picking a fight. I'm being corrected and I appreciate it from everyone who can teach me something new.

Re:Even if it does... (0)

Anonymous Coward | 1 year,12 days | (#44315875)

The goal is to get a baby without Down's syndrome. There is a process that will provide that every time, even if some fetuses do have Down's syndrome. I'd call that process a treatment. Diagnosis is part of the treatment, in that it identifies which fetuses to abort. I think you're getting confused because you think of the word treatment as applying to the fetus. It doesn't. It applies to the mother - she is having an on-going treatment that will get her a baby without Down's syndrome. Part of that treatment indeed does involve diagnosis of the fetus.

Re:Even if it does... (1)

buddyglass (925859) | 1 year,12 days | (#44317073)

By that argument there's a treatment for deafness too. My newborn's deaf? Smother him and start over. Awesome- I just cured congenital deafness!

Re:Even if it does... (1)

Anonymous Coward | 1 year,12 days | (#44315655)

Abortion isn't a treatment any more than throwing a laptop in the trash is computer repair.

Re:Even if it does... (3, Interesting)

SuricouRaven (1897204) | 1 year,12 days | (#44315803)

And if fixing the laptop would cost more than buying a new one, throwing it in the trash is still the more sensible approach.

Re:Even if it does... (0)

Anonymous Coward | 1 year,12 days | (#44315919)

Aren't you a Space Nutter who believes the species must colonize the universe??

Statistical illiteracy == eugenic Russian roulette (1)

An dochasac (591582) | 1 year,12 days | (#44315973)

But we already have a treatment: The prenatal test for downs is reliable, usually noninvasive (Amniocentris is used only to confirm an ultrasound result) and early in pregnancy. If you get a dud, discard and try again.

The only problem comes from the religious people who believe everything with a human genome is magical or sacred.

See my OP. No the neuchal ultrasound evaluation is not particularly reliable. Combined with a maternal blood test it becomes somewhat more reliable but anyone who would use either of these to justify life/death decisions is an idiot, whatever their eugenic good intentions are. Even if these tests were 100% accurate, we have the problem of medical incompetence. A nurse read our son's neuchal/blood test results of 1/40 (2.5%) chance of Down Syndrome and presented it as a 40% chance. This nurse previously worked in well respected Boston hospital and heaven knows how many aborted babies were the result of her mathematical illiteracy. Thankfully the country where she now works (Ireland) doesn't allow abortion for eugenics as the US does.

Re:Statistical illiteracy == eugenic Russian roule (0)

Anonymous Coward | 1 year,12 days | (#44316405)

And you've investigated her conduct to verify that the information you received once represents a standard, or you're just assuming?

Re: Even if it does... (0)

Anonymous Coward | 1 year,12 days | (#44316547)

such a lack of compassion...
  If it's not perfect, to the cliffs with it.
Not everyone shares this Spartan worldview. Sacrificing our humanity for progress is not the correct path for our species.

Re:Even if it does... (1)

mjr167 (2477430) | 1 year,12 days | (#44317151)

The prenatal test is not reliable. All it says is that there is an x percent change of a baby with Down syndrome. Also note, amniocentesis CAUSES a miscarriage in about 1 in 250 women. When I was pregnant with my son my doctor sat in front of me with a straight face and said "There is a 1 in 300 chance your baby has trisonomy 13. Should we do an amniocentesis to confirm?" I was more likely to miscarry from the test than actually have an effected baby... Why would I run that test?

ALL the down syndrome and other genetic disorder tests they offered me only had about a 60% accuracy rate. Prenatal testing is a joke.

Tricky to translate to primetime (4, Informative)

Blugenes (2987347) | 1 year,12 days | (#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.

Re:Tricky to translate to primetime (1)

Anonymous Coward | 1 year,12 days | (#44315005)

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.

I'm not up on this stuff enough to do more than speculate, and I know the results of both of these are preliminary, but if the technique pans out they might be able to use the same method as those Italian guys recently used to cure Wiskott-Aldritch syndrome in six children [slashdot.org] ...

Re:Tricky to translate to primetime (1)

icebike (68054) | 1 year,12 days | (#44315061)

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

Re:Tricky to translate to primetime (2)

Blugenes (2987347) | 1 year,12 days | (#44315921)

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!

Re:Tricky to translate to primetime (2)

bill_mcgonigle (4333) | 1 year,12 days | (#44316987)

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 person with advanced MS (I know a woman who has tracks mounted on her ceiling so she can ride a sling from the bed to the toilet), convincing them to participate in a trial before their crippling death would not be much of a challenge. The FDA sees this as taking advantage of the sick and would rather force the non-choice of no cure on this population.

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.

The Ethical Implications are Staggering (3, Interesting)

zbobet2012 (1025836) | 1 year,12 days | (#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?

Re:The Ethical Implications are Staggering (5, Interesting)

vikingpower (768921) | 1 year,12 days | (#44314961)

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.

Re:The Ethical Implications are Staggering (5, Informative)

mjwx (966435) | 1 year,12 days | (#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.

Re:The Ethical Implications are Staggering (0)

Anonymous Coward | 1 year,12 days | (#44315065)

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

I'm sure I'm ignorant here, but I heard that people with down syndrome are naturally sterile.

Re:The Ethical Implications are Staggering (2)

LordLucless (582312) | 1 year,12 days | (#44315093)

Males are, not females

Re:The Ethical Implications are Staggering (1)

cffrost (885375) | 1 year,12 days | (#44315273)

If a mother has Down Syndrome, what is the probability of her child being afflicted?

(My own attempts to find this figure failed; much appreciated if anyone knows offhand.)

Re:The Ethical Implications are Staggering (1)

LordLucless (582312) | 1 year,12 days | (#44315293)

A quick Wikipedia-ing [wikipedia.org] says 50%

Without preimplantation genetic diagnosis, approximately half of the offspring of someone with Down syndrome also have the syndrome themselves.

Re:The Ethical Implications are Staggering (1)

cffrost (885375) | 1 year,12 days | (#44315369)

A quick Wikipedia-ing [wikipedia.org] says 50%

Without preimplantation genetic diagnosis, approximately half of the offspring of someone with Down syndrome also have the syndrome themselves.

Thanks, mate. I checked there first; I must've skimmed past it.

I like your new sig, BTW.

Re:The Ethical Implications are Staggering (2)

Dexter Herbivore (1322345) | 1 year,12 days | (#44315217)

40 years ago? You think it was stopped then? [smh.com.au]

Re:The Ethical Implications are Staggering (1)

quenda (644621) | 1 year,12 days | (#44315245)

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.

Re:The Ethical Implications are Staggering (2)

vikingpower (768921) | 1 year,12 days | (#44315419)

( ... ) 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 :-)

Re:The Ethical Implications are Staggering (1)

quenda (644621) | 1 year,12 days | (#44315505)

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 option for her parents or carers to consider?
I think the main problem is the same as with contraception for teenagers - people are just not comfortable thinking about sex.
Girls enjoy sex. We need to get over it. With or without Downs.

Re:The Ethical Implications are Staggering (2)

Rockoon (1252108) | 1 year,12 days | (#44315619)

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:The Ethical Implications are Staggering (0)

Anonymous Coward | 1 year,12 days | (#44315779)

Fetus vs person.

That is all.

Re:The Ethical Implications are Staggering (2, Funny)

Anonymous Coward | 1 year,12 days | (#44315069)

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

Re:The Ethical Implications are Staggering (1)

EzInKy (115248) | 1 year,12 days | (#44314981)

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?

Re:The Ethical Implications are Staggering (0)

Anonymous Coward | 1 year,12 days | (#44315911)

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?

The law is equal, don't you know? The father is also free to eject or alter any part of the fetus that resides within his body. There's also the problem that paternity often doesn't correspond to the official story, so if you give the father a say, it might be impossible to figure out who that is. Though you're right, there's a double standard here: either the mother has control and is entirely responsible for the baby once it's born, or the father also has control and is responsible for the baby once it's born. Right now we have a bizarre mix of these where the father is both fully responsible and also fully without any control. To top that off, he's allowed to take responsibility for the child while being deceived about paternity, but if no one takes responsibility, then paternity is binding. It should be one or the other - either it's based on paternity or it's not. Oh, and in a divorce the mother usually gets the child because she's a woman. Plenty of inequality of the sexes to go around here.

Re:The Ethical Implications are Staggering (2)

mjwx (966435) | 1 year,12 days | (#44315009)

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 then have a fully functioning adult with an education of a 7 yr old. Nothing insurmountable, but it's not like you can flick a switch and say "down syndrome be gone". It'll be a recovery that takes years.

Re:The Ethical Implications are Staggering (4, Interesting)

DigiShaman (671371) | 1 year,12 days | (#44315035)

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.

Re:The Ethical Implications are Staggering (4, Informative)

Anonymous Coward | 1 year,12 days | (#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] ).

Re:The Ethical Implications are Staggering (0)

Anonymous Coward | 1 year,12 days | (#44315667)

Why is it bad to pass on the gene once we have the means to suppress it?

Re:The Ethical Implications are Staggering (1)

DigiShaman (671371) | 1 year,12 days | (#44316997)

Civilizations rise and fall. What happens after 500 years of this suppression that the human race no longer has access to high tech (thermonuclear war)? We've just doomed millions of children about to be conceived during this period. And while it would be a minor issue compared to an event of a societal collapse, it's still another form of misery we have inflicted on future generations.

You do know we have a "doomsday vault" holding most (if not all) the seeds for the crops we grow, right? The idea being they serve as an original genetic source in the event we genetically engineer our plants to extinction. It's a way of saying "oops, we hit a dead end and now need to walk back and start over with original source material". We don't have that luxury with human beings let alone other animals. People aren't Cabbage Patch Kids; you can't grow them in the ground. With seeds at least, anyone in this world can plant them should the world turn post-apocalyptic.

Re:The Ethical Implications are Staggering (2)

gringer (252588) | 1 year,12 days | (#44316365)

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.

Re:The Ethical Implications are Staggering (1)

Edis Krad (1003934) | 1 year,12 days | (#44315109)

You should watch GATTACA

Re:The Ethical Implications are Staggering (1)

fnj (64210) | 1 year,12 days | (#44315301)

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.

Re:The Ethical Implications are Staggering (2)

Daniel Dvorkin (106857) | 1 year,12 days | (#44315519)

You should watch GATTACA

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

Re:The Ethical Implications are Staggering (0)

Anonymous Coward | 1 year,12 days | (#44315929)

(spoiler!) Yeah, especially a movie where the hero's only aim in life is to sabotage an important space project by adding avoidable risks that the astronaut will fall ill during the mission. As though the project was created just for his own amusement. The movie would have been much more interesting if the hero, once he gets in space, died of a heart attack and ruined the mission. That way the movie would have opened a debate about the actual issue rather than just being a propaganda piece.

Re:The Ethical Implications are Staggering (0)

Anonymous Coward | 1 year,12 days | (#44316053)

I don't see a problem there. You ask the affected people if they want to try the treatment. It doesn't matter if they are competent or not. If they can't answer by saying "yes" then too bad: they won't get the treatment. Simple.

Science fiction literature (-1)

Anonymous Coward | 1 year,12 days | (#44315027)

this was covered already in last year's hit, the fifth surrogate flowers for algattaca logan's runner vs. wolverine

designer babies
designer goats
we have no designer goats
give them pen and paper already

we need designer goats before we have designer babies

we need artificial wombs and no restrictions on their use before we have designer babies

we need designer robots before we have designer babies

we need designer robots building new designer robots in order to maintain the previous generation of designer robots who are building the next generation of designer robots who will then maintain the previous generation as they themselves continue the proud robotkind tradition of building the next generation of designer robots

freedom above all
fuck yeah football

Re:Science fiction literature (0)

Guy Harris (3803) | 1 year,12 days | (#44315177)

we have no designer goats

Or designer goatse.

Edwards Syndrome (0)

Anonymous Coward | 1 year,12 days | (#44315397)

The question is, can this work for other trisomies? For instance, Trisomy 18 -edward's stndrome- which is a much more deadly defect. Also, it hits a little closer to home as my niece suffers from it so I'm kinda biased.

Seroiusly though, even if it doesn't help in my niece's case, it would be great if there was some sort of break through with down syndrome.

Re:Edwards Syndrome (1)

Muad'Dave (255648) | 1 year,12 days | (#44316063)

Or Klinefelter's Syndrome [wordpress.com] , trisomy-23.

No problem in Finland (0)

Anonymous Coward | 1 year,12 days | (#44315697)

In Finland children with Down or other syndromes can be aborted (without any other reason). Termination seems to work here.

Good news I hope. (1)

Janette Shavers (2859555) | 1 year,12 days | (#44315717)

I just wish this breakthrough allows them to find some way to prevent such a condition from happening.

bad news (1)

slashmydots (2189826) | 1 year,12 days | (#44316685)

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.

hypothesis about severity (1)

JigJag (2046772) | 1 year,12 days | (#44316723)

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 unabashed.

If that is how it works, the severity would be dependant on K. Low K means high severity, high K low severity.

Of course, it would be easy to test. Take someone with a mild case and sample cells from many different parts of the body to see if they all are trisomic.

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