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.

30 of 52 comments (clear)

  1. GMO Humans by LordAba · · Score: 1

    I'm a vegan cannibal, so I'm not sure how to feel about this. Hopefully it goes well!

    1. Re:GMO Humans by Applehu+Akbar · · Score: 1

      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.

  2. Sigh by Anonymous Coward · · 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.

    1. Re:Sigh by ShanghaiBill · · Score: 1

      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.

    2. Re:Sigh by CrimsonAvenger · · Score: 1

      On-line dating sites should have checkboxes for these recessive genes, so people don't inadvertently pair up.

      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...

      --

      "I do not agree with what you say, but I will defend to the death your right to say it"
    3. Re:Sigh by MobyDisk · · Score: 1

      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.

    4. Re:Sigh by cayenne8 · · Score: 1

      ay 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.

      Those were my thoughts too....

      I mean, if these were my potential kids and I knew they had this, I'd be going for the "clothes hanger treatment" pronto.

      Not fair for the parents or the potential kids.

      But then again, that's me, this is a personal decision the parents have to make.

      But it strikes me as a bit selfish on the side of these parents to subject offspring to these genetic maladies they know they would likely have given their genetics and the fact they already have a defective child.

      --
      Light travels faster than sound. This is why some people appear bright until you hear them speak.........
    5. Re:Sigh by angel'o'sphere · · Score: 1

      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.

      --
      Cost free eBook I read (by iBook/Kobo/Amazon/ObookO/Gutenberg etc.): "The Green Odyssey" by Philip Jose Farmer.
    6. Re:Sigh by Instantlemming · · Score: 1

      It's recessive AND X-linked.
      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).

    7. Re:Sigh by sjames · · Score: 2

      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.

  3. Re:Why are defective humans encouraged to breed? by ShanghaiBill · · Score: 2

    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.

  4. Re:Why are defective humans encouraged to breed? by zlives · · Score: 2

    "Anyway, now that we can edit-out the defects" yes like dark hair and eyes /duck

  5. Re:Why are defective humans encouraged to breed? by UnknownSoldier · · Score: 3, Informative

    Go watch GATTACA, or the Star Trek episodes that talk about Eugenics Wars, specifically Doctor Bashir, I Presume 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 for more details.

  6. Selfish parents by Gravis+Zero · · Score: 2

    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.
    1. Re:Selfish parents by Anonymous Coward · · Score: 1

      " 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?

    2. Re:Selfish parents by ShanghaiBill · · Score: 1

      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.

  7. We are all "defective" by Roger+W+Moore · · Score: 1

    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.

  8. Re:Why are defective humans encouraged to breed? by Bruce+Perens · · Score: 1

    Explain to me why eugenics is bad again?

    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 choice.

  9. Re:Why are defective humans encouraged to breed? by cayenne8 · · Score: 1
    The trouble is, modern medicine has tilted the scales a bit in the other direction and it looks to be causing problems.

    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 pool, potentially to the detriment of humans.

    How do we fix it? I dunno....but just occurs to me that of late, we're really going out of our way to block natural selection.....with those that are born due to heroic measure...or even those who are born naturally ok...but we protect them from their own stupidity, which would have selected themselves out of the gene pool if allowed to do so.

    --
    Light travels faster than sound. This is why some people appear bright until you hear them speak.........
  10. Re:Why are defective humans encouraged to breed? by angel'o'sphere · · Score: 1

    I like dark hair and dark eyes.
    The darker, the better :D

    The only thing beating that would be a good red hair with green eyes, very hard to come by though.

    --
    Cost free eBook I read (by iBook/Kobo/Amazon/ObookO/Gutenberg etc.): "The Green Odyssey" by Philip Jose Farmer.
  11. I am not a doctor... by hyades1 · · Score: 1

    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.
    1. Re:I am not a doctor... by scottrocket · · Score: 1

      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.

    2. Re:I am not a doctor... by hyades1 · · Score: 1

      Or perhaps they seek me out, wherever I may be.

      (Neither of us believes that, but it's a fun conceit nevertheless)

      --
      I've calculated my velocity with such exquisite precision that I have no idea where I am.
  12. Babies aren't that easy to come by by rsilvergun · · Score: 1

    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/
  13. Re:Why are defective humans encouraged to breed? by ShanghaiBill · · Score: 1

    I like dark hair and dark eyes.
    The darker, the better :D

    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.

  14. Re:Why are defective humans encouraged to breed? by ShanghaiBill · · Score: 1

    How do we fix it?

    Here is how we fix it: CRISPR/Cas9

    Any problem cause by technology can be fixed with MORE TECHNOLOGY.

  15. Re:Why are defective humans encouraged to breed? by onepoint · · Score: 1

    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 )

    --
    if you see me, smile and say hello.
  16. Re:Why are defective humans encouraged to breed? by onepoint · · Score: 1

    I wonder if it will lead to a Logans Run type world

    --
    if you see me, smile and say hello.
  17. Re:But by davide+marney · · Score: 1

    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.

    --
    "We receive as friendly that which agrees with, we resist with dislike that which opposes us" - Faraday
  18. Re:But by cascadingstylesheet · · Score: 1

    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.