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Scientists Silence Extra Chromosome In Down Syndrome Cells
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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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?
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.
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?
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.
Stay sentient. Don't drink bad milk.
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.
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.
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.
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.
And if fixing the laptop would cost more than buying a new one, throwing it in the trash is still the more sensible approach.
(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."
Well said and a good counterpoint.
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