Rare Genetic Disorder Treated in Womb For the First Time (nature.com) 25
A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for the motor-neuron condition while in the womb. Nature: The child's mother took the gene-targeting drug during late pregnancy, and the child continues to take it. The "baby has been effectively treated, with no manifestations of the condition," says Michelle Farrar, a paediatric neurologist at UNSW Sydney in Australia. The results were published in the New England Journal of Medicine yesterday. The child was conceived with a genetic condition known as spinal muscular atrophy, which affects motor neurons that control movement, and leads to progressive muscle weakening.
About one in every 10,000 births have some form of the condition -- making it a leading genetic cause of death in infants and children. In its most severe form, as in the case of this child, individuals lack both copies of the SMN1 gene, and have only one or two copies of a neighbouring gene, SMN2, that partially compensates for that deficiency. As a result, the body does not produce enough of the protein required for maintaining motor neurons in the spinal cord and brainstem. This protein is most important in the second and third trimesters, and the first few months of life. Babies with severe disease don't usually live past their third birthday.
About one in every 10,000 births have some form of the condition -- making it a leading genetic cause of death in infants and children. In its most severe form, as in the case of this child, individuals lack both copies of the SMN1 gene, and have only one or two copies of a neighbouring gene, SMN2, that partially compensates for that deficiency. As a result, the body does not produce enough of the protein required for maintaining motor neurons in the spinal cord and brainstem. This protein is most important in the second and third trimesters, and the first few months of life. Babies with severe disease don't usually live past their third birthday.
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How Buddhist. Shove your religion up your ass.
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We could shoot you in the base of the skull right now as well and there would be no doubt about the long term consequences. Who knows what your tomorrow will bring you might get cancer and face a life time of suffering!
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I'm a person. That's murder. A fetus is not a person.
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A fetus is not a person.
You say that with such certainty, but an unborn human is still considered a "fetus" at 38 weeks, and aside from just not having stepped out of the womb yet, that's a "person" for any reasonable definition of the word. The truth, such as it is, is that sometime between "implantation" and "birth" the "clump of cells" becomes a "person." Reasonable people can disagree just when in the process that occurs, but it's unreasonable to state that is at either the very beginning or the very end.
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They are still not people at 38 weeks, not until they're born. They're definitely not a person at 11 weeks, when amniocentesis can be performed. Only religious nuts go for personhood at 11 weeks.
Meanwhile, anybody carrying the genes has options (from ACOG):
You can get pregnant and then have amniocentesis or chorionic villus sampling (CVS) to see if the fetus has SMA.
You can get pregnant using in vitro fertilization (IVF). You can use your own eggs
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As an adult with SMA, I find that very offensive. Even if you think that is joke, it is not funny and just wrong.
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You're a person. A fetus is not a person.
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I wouldn't be if my parents listened to scum like you
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Did your parents know they were carriers and then go ahead and have you? Seems they knowingly fucked you over for your entire life.
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The condition was discovered in the late 1800s. Genetic testing was discovered in the mid 90s. There may be a family history of the disease. So I wonder if they knew. If not, it's a tragedy you all suffer. If they did or if they had the option to know and decided not to check, it's a tragedy you suffer that they could have prevented. If it was type 0 or 1, you would not be alive. Type 2 is a relatively short and disabled life. Type 3 and 4 are not so awful.
There's a reason genetic counselors exist.
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A pity your parents didn't economize more.
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Where did all the incel haters of women's rights come from? Oh yeah. It's slashdot. Incel City.
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Uh hu.
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"women should have the right to choose."
"Laws don't give you Rights, they give you permission."
- G. Carlin
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We know the long term effects of banning abortion. More women are dying [texasstandard.org]. Not to mention more women are infected with sepsis [propublica.org] due to abortion being banned, which can also lead to death or, at the very least, severe medical conditions.
This is very cool (Score:3)
WTF parents knew they were gene carriers (Score:3)
And still decided to roll the 4-sided dice!