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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."
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.
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.
Calling someone a "hater" only means you can not rationally rebut their argument.
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 ([43] is this research paper).
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.