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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.
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.
Stay sentient. Don't drink bad milk.
Abortion isn't a treatment any more than throwing a laptop in the trash is computer repair.
I just wish this breakthrough allows them to find some way to prevent such a condition from happening.
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."
'From the mouths of babes' is only endearing when it comes from an actual child.
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.
Or Klinefelter's Syndrome, trisomy-23.
Tiller's Rule: Never use a word in written form that you've only heard and never read. You will end up looking foolish.
Well said and a good counterpoint.
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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.
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.
"The hallmark of humanity is the ability to move beyond sensory inputs" - Mary Helen Immordino-Yang
When the admins find a story that applies directly to them they can't help but post it.
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!
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.
This sig has been enciphered with a one-time pad. It could say almost anything.
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
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.
AFAIK, you can't readily test for deafness until the kid is born. Therefore, those either are or are not the same argument, depending solely on whether you consider abortion to be tantamount to murder or not.
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So termination is a "treatment" for a condition if it's done in utero, but not ex utero. Got it.
Scientists smash biological organism with a hammer, cure disease. Details at 11....
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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 giving birth to a child with autistic spectrum disorder or 1 chance in 25 of giving birth to a child with bipolar disorder? Both of these conditions can be a more severe disability than DS But as there is no accurate per-natal test for these, wouldn't sterilization be the sensible thing be to do... for everyone?
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.
Have you ever met anyone with Down Syndrome or Mosaic Down Syndrome? Are you really saying that allowing them to live is comparable to experimenting on Jews in concentration camps? This is the sad thing about the fact that Americans have virtually cleansed future generations of a kind of person who someone decided is undesirable. Too few of these people and their loved ones are here to correct your generation's terribly negative assumptions about the value of their human lives. Yes, Down syndrome is a burden but any parent who isn't prepared to care for a child for at least 1/3rd of their lives should not have children of any sort. There are a number of disorders which are much more of a burden. In my neighborhood there are several people with Down syndrome, two of my friends were born blind as were other, another was born with MD and countless other friends have a disposition to bipolar disorders. These good people are able to think, create, love and enjoy their lives which in many cases are more independent and just as as the lives of others.
A virus-delivered multicell cure for single-gene disorders is a real possiblity given experiments with colorblindness. We should celebrate this, but I shudder to think of a world where a 1 chance in 40 of a disorder causes us to ignore the humanity of the person with the disorder.
The take no prisoners battle between the anti-life and anti-choice people have left us in a state of
So, what is the value of a human life? Is yours worth living? Are you sufficiently non-defective? Can you be fixed?
Hard questions... Who decides?
(Are babies then to be treated as property like slaves?)
My wife has worked 15 people with Downs Syndrome for about ten years. The disease affects each person individually. I've read comments on this article that seem to suggest that, categorically, those affected by Downs are happy or how they are fine except for acting like a four year old. This definitely is not always the case and it's probably the case only half of the time. I've personally seen a young girl with Downs who had to be strapped into a wheelchair or she would pick her skin off. She had to be institutionalized. I've also seen others that are incredibly violent and had to be heavily medicated. When most people come across someone with Downs, they are coming across the people who are not as affected by the disease as some others. The rest end up as wards of the state because there's no way normal parents would be able to take care of them,
The questions are not so profound as they appear. They could be answered in a consistant way, but not without first giving up a few sacred values - most importantly the idea that humans are somehow special just by virtue of being human.
Once you get over that, then you can start trying to look at what makes humans worth anything more than any other animal. It gets very tricky from there on because you end up trying to place continuous variation into discrete classes, but it doesn't take much to conclude that a human mind is central to the question. Thus a functional brain is a nessicary* but not sufficient requirement.
The downs test is first-trimester. Brain, yes. Functional, no. For that matter, it's questionable how functional a newborn is - even the most basic motor functions and sensory processing can't develop without input and feedback. They certainly aren't self-aware.
Take an organism that is genetically human but lacks the functional brain, and all you have is a bag of organs. Slightly less moral worth than a cat - at least the cat is capable of expressing some desires, even if they are limited to 'open the door' and 'put food in the bowl.'
*Subject to change in the distant future, but we're a long way from sci-fi issues yet.
I fail to see how the two relate.
I also don't see what is wrong with space colonisation. It's only a matter of time until the next big meteor impact - might as well get off this rock while we can.
There is no easy choice. So you make the least difficult choice.
That's what adoption is for.
Actually, it is biology that creates the impulse that the child must be one's own. The motivations for our choices are as much biology as our ability to carry them out.
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I think sometimes we as humans need a reminder about the realities of the world. It's a beautiful amazing place, that will kill you in an instant if you give it a chance. it really is a moral dilemna. at what point does the ability and responsibility to help others become an overreach and undue interference? this can be likened to the concept of an advanced civilization meeting cavemen....do they help them, uplift them? or let them develop naturally?
Yes, I'm referring to the Prime Directive, though even that harkens to the same questions that have arisen in regards to "uncontacted tribes", such as http://en.wikipedia.org/wiki/Sentinelese_people
And it's a fascinating philosophical debate. We could make their lives so much better than they are, better medicine, better health, better education, life above a subsistence level...but should we? And this here, is nearly an equivalent situation.
The guy who said the election was rigged won the presidency with the second-most votes.
and the reminder i was talking about was that, through the eyes of some of the people we consider disadvanteged, we can be reminded about what truly matters. about the simple truths. we are upright monkeys on a spaceship cruising the universe with the ability to do great things...or evil ones. and we have the free will to make that choice. in islam these "disadvantaged" are considered to be touched by allah, specially marked as his, with a free ticket to heaven, and both a gift and test to those of us around them. christianity holds some similiar views. i think its a pretty good viewpoint, and good reminder for us when we get too wrapped up in the negatives, in the politics, in the bashing of people different from us.
The guy who said the election was rigged won the presidency with the second-most votes.
TFA says the inserted RNA "paints" the extra chromosome. It just looks like if the journalist had no time to understand or explain the underlying mechanism. Someone can explain?
I'm not saying I agree with the initial premise (that abortion is a treatment) at all. I'm just disagreeing with the assertion that abortion can only be considered a treatment if murder is also considered a treatment, because that assertion requires you to strictly define abortion as being equivalent to murder, which is a definition that not everyone agrees with..
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