In First, Doctors Treat Rare Genetic Disorder With an Injection In Utero (arstechnica.com) 52
An anonymous reader quotes a report from Ars Technica: Three babies with a rare genetic disorder have been spared the worst effects of their condition thanks to an experimental injection they received in utero, researchers report this week in The New England Journal of Medicine. The success marks the first time a genetic disorder has been partially reversed by such a treatment prior to birth. The in utero injections treated a rare, recessive genetic condition called X-linked hypohidrotic ectodermal dysplasia (XLHED), which affects the development of skin, hair, nails, and teeth. People with the disorder have sparse body and head hair, dry eyes, mouths, and airways, and few teeth, which are usually pointy. But most dangerously, the condition also disrupts development of sweat glands throughout the body. People with XLHED have fewer sweat glands and/or poorly functioning ones. This leaves individuals vulnerable to high fevers and over-heating (hyperthermia), which can be life-threatening and lead to medical complications.
For the new experimental treatment, the researchers realized that it all came down to timing. Humans develop sweat glands much earlier in their development, generally between the 20th and 30th week of pregnancy. To prevent XLHED from wreaking havoc, the researchers needed to deliver the protein prior to birth. After testing the idea for safety and efficacy in mice and monkeys, doctors in Germany got a compassionate-use approval to try it in a 38-year-old pregnant woman. She had a family history of XLHED, a young son with the condition, and was found to be carrying twin boys with it, too. [...] The researchers will track the babies' development to see if the effects are permanent, but data from animals suggests that they will be.
For the new experimental treatment, the researchers realized that it all came down to timing. Humans develop sweat glands much earlier in their development, generally between the 20th and 30th week of pregnancy. To prevent XLHED from wreaking havoc, the researchers needed to deliver the protein prior to birth. After testing the idea for safety and efficacy in mice and monkeys, doctors in Germany got a compassionate-use approval to try it in a 38-year-old pregnant woman. She had a family history of XLHED, a young son with the condition, and was found to be carrying twin boys with it, too. [...] The researchers will track the babies' development to see if the effects are permanent, but data from animals suggests that they will be.
GMO Humans (Score:1)
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I'm a vegan cannibal, so I'm not sure how to feel about this.
Let me congratulate you. If more vegans were eaten by cannibals, there would be one less sojourns of annoyance in the world.
Sigh (Score:1)
Yay for doctors being able to spare child #2 and #3 from the worst effects of this horrible condition (they'll still have it).
But one must ask: wouldn't it have been more considerate of the parents to not conceive these children? One might consider tubal ligation (especially since the mother has the condition, we didn't hear about the father), vasectomy, an IUD, or any of the many safe and effective methods of birth control.
You know who I am. Posting anonymously to avoid nastiness.
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the mother has the condition, we didn't hear about the father
It is a recessive trait. You only get the disease if both parents carry the gene.
On-line dating sites should have checkboxes for these recessive genes, so people don't inadvertently pair up.
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Why? If both parents carry the recessive, then there is one chance in four that the kid will have the gene reinforced. Not generally worth the bother of worrying about...
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Reinforced is the wrong term.
There is a 1/4 chance that a child suffers from the gene. And a 100% chance it gives (if it has it) further to its kids.
Then again there is a 1/4 chance that it does not have it.
And then again a 1/2 half it has it, and from there another 50% chance it passes it to its children.
However for many genes we know meanwhile that the terms recessive and dominant are meaningless. It was a simplification we still learn in school, but it has nothing to do how genetics really works.
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This means that if mom has the disease, she has 2 x-chromosomes with the faulty gene.
That means ALL male offspring WILL HAVE the disease (as they will get their single x-chromosome from their mother, and the y-chromosome from their father, so there will never be a healthy x-chromosome for them, regardless of what the father has).
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I'll treat this as a serious question worth answering.
They may not have known, at the time of conception, that child #1 had the condition. I have some friends who conceived their second child shortly before realizing child #1 was severely autistic. They only tested the fetus after child #1 was diagnosed.
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Those were my thoughts too....
I mean, if these were my potential kids and I knew
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Again: the defect is a lack of hair!
What the funk is wrong with you? Never saw a bald person that is a genius?
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NO, that is only the most minor effect. They also have only 4 or 5 teeth, all abnormal. But more seriously, no sweat glands. That means they seriously overheat at the slightest provocation. As in medical emergency, not need to sit down for a minute.
As genetic diseases go, it's not the worst of the lot, but it's a lot more than missing hair.
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Defective people are not "encouraged" to breed, they are just not prohibited from doing so. The reason is that governments powerful and coercive enough to impose reproductive mandates tend to do plenty of other nasty things. It isn't worth it. Freedom doesn't lead to perfection, but it is better than the alternatives.
Anyway, now that we can edit-out the defects (and soon edit-in some upgrades), it doesn't matter as much who breeds.
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"Anyway, now that we can edit-out the defects" yes like dark hair and eyes /duck
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I like dark hair and dark eyes. :D
The darker, the better
The only thing beating that would be a good red hair with green eyes, very hard to come by though.
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I like dark hair and dark eyes. :D
The darker, the better
So do plenty of other people. Statistics from on-line dating sites show that Asian women get the most responses. Some gentlemen prefer blondes, but many do not.
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Editing, that's the dangerous part, but let's keep everyone breeding because the randomness of DNA is important. Mutant's in any way, shape or form are good for humans.
Sidenote: I wonder if people who don't do vaccinations ( I think they are called anti-vaccer's ) would accept this. While not the same it seems kinda similar on the real big scale ( no the micro scale of course )
Re:Why are defective humans encouraged to breed? (Score:4, Informative)
Go watch GATTACA [wikipedia.org], or the Star Trek episodes that talk about Eugenics Wars [wikia.com], specifically Doctor Bashir, I Presume [wikia.com] IIRC.
The danger is that it might become a slippery slope:
1. Only the rich will be able to afford,
2. It could lead to reverse discrimination and job profiling,
i.e. I'm sorry, your Johnny wasn't born with _X_, he isn't allowed to do _Y_
3. Loss of genetic diversity.
Show me ANY tech that man hasn't abused the fuck out? And while that isn't reason enough we need to proceed with caution instead a naive "full steam ahead".
Go read Eugenics [wikipedia.org] for more details.
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I mean, we now go often to heroic measures and efforts to save problem kids that would not have been born a couple decades ago.
Sure it works out some, but I fear that by doing this so much on children that are SO damaged genetically, that we are interfering with natural selection that would basically cull this out of the gene pool in the past, but now.....we're keeping bad genes in the po
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How do we fix it?
Here is how we fix it: CRISPR/Cas9 [wikipedia.org]
Any problem cause by technology can be fixed with MORE TECHNOLOGY.
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I wonder if it will lead to a Logans Run type world
We are all "defective" (Score:2)
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It really pisses me off the degree to which we seem to have forgotten World War II and are repeating all of its mistakes.
The main problem is who decides that your personal trait is bad for society. Is it "genetic jewishness"? Does ADHD count? There goes Einstein, and probably me too. Color blindness? Me again. Dispraxia? Maybe me. Cancer? Me again.
This does not, however, exempt you from personal responsibility regarding who you bring into the world. Conception is a ch
Selfish parents (Score:3)
She had a family history of XLHED, a young son with the condition, and was found to be carrying twin boys with it, too.
I think it's terrible that despite having a life's worth of warning about the outcome that the parents decided to go ahead and burden children with their own genetic shortcomings. There are orphans that need adopting but despite that they decided to pass on their problems to an entirely new generation. The selfishness of humans really just blows my mind.
I'm all for science but I can't help but scorn people who insist on having their own children while knowing the price their progeny will have to pay.
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Judging from the article, XLHED is not that bad.
So what is your stupid problem with people wanting a child? Ever tried to adopt one? It takes a decade or two to be in line to even be considered ... there are not many kids for adoption in a western country.
I'm all for science but I can't help but scorn people who insist on having their own children while knowing the price their progeny will have to pay.
The price is a lack of HAIR you dumb moron.
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" People with XLHED have fewer sweat glands and/or poorly functioning ones. This leaves individuals vulnerable to high fevers and over-heating (hyperthermia), which can be life-threatening and lead to medical complications. "
Did you even _bother_ to read the summary?
Babies aren't that easy to come by (Score:2)
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There are orphans that need adopting
No there aren't. There are far more people that want to adopt than there are children available, and most prospective parents don't qualify.
My wife and I tried to adopt, and were told right at the beginning that it was a waste of time. We had two disqualifications, either of which was sufficient:
1. We already had our own kids.
2. One of us (me) was over 50.
So we got a dog instead.
I am not a doctor... (Score:2)
But I have definite plans this fine Friday night to make an in utero injection or two.
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But I have definite plans this fine Friday night to make an in utero injection or two.
Your sig seems to contradict your Friday night's endeavor.
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Or perhaps they seek me out, wherever I may be.
(Neither of us believes that, but it's a fun conceit nevertheless)
But (Score:1)
Treated in utero?
But Nancy P says they aren't even people until you take them home from the hospital!
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At 20 weeks in the US, you can legally kill a baby in the womb OR perform life-saving surgery on them. How that makes any sense whatsoever is beyond me.
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At 20 weeks in the US, you can legally kill a baby in the womb OR perform life-saving surgery on them. How that makes any sense whatsoever is beyond me.
Beyond me too.