Slashdot Mirror
In First, Doctors Treat Rare Genetic Disorder With an Injection In Utero (arstechnica.com)
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.
I'm a vegan cannibal, so I'm not sure how to feel about this. Hopefully it goes well!
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.
Explain to me why eugenics is bad again?
...are doctors injecting a Nirvana album into a foetus? Won't that kill it?
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.
Anons need not reply. Questions end with a question mark.
We are all genetically defective in one way or another. Problems usually only arise when two people with the same defects decide to have kids which is why we have laws against incest. With this one limitation self-selection of a mate works well - after all, it's how humans and all other species evolved.
But I have definite plans this fine Friday night to make an in utero injection or two.
I've calculated my velocity with such exquisite precision that I have no idea where I am.
Treated in utero?
But Nancy P says they aren't even people until you take them home from the hospital!
And people want babies, not children. Babies, especially ones of the right color, are actually hard to come by. What's _not_ hard to come by are kids ages 6 and up who come from broken homes. Most of the time they end up in phoney foster care homes that are really small scale orphanages (know people making a good living running these). Nobody wants them because they're full of problems from the rough upbringing and, well, they're not cute babies. It's a screwed up situation all around.
Hi! I make Firefox Plug-ins. Check 'em out @ https://addons.mozilla.org/en-US/firefox/addon/youtube-mp3-podcaster/