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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?
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.
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?
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.
we have no designer goats
Or designer goatse.
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.
In Finland children with Down or other syndromes can be aborted (without any other reason). Termination seems to work here.
I just wish this breakthrough allows them to find some way to prevent such a condition from happening.
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.
And you've investigated her conduct to verify that the information you received once represents a standard, or you're just assuming?
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.
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
Scientists smash biological organism with a hammer, cure disease. Details at 11....
I object to power without constructive purpose. --Spock
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
Now that is really insulting to the people afflicted with Down's syndrome. The folks administering ADA will likely be looking into this.
And it only costs one coat hanger.
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?
The reason is that if they could test for being ginger, alcoholic or thick the population would be negative within a week.
Even Snowden would have been corrected!