7 ms·

CRISPR takes important step toward silencing Down syndrome’s extra chromosome

225 points by amichail 6mo ago

JimmyBuckets 6mo ago
[flagged]
- ButlerianJihad 6mo ago
  > 99% are happy Unfortunately, that's not entirely accurate. 50-90% of babies with diagnosed Down Syndrome are aborted before having a chance to be born and enjoy their lives. In Iceland, that figure is 100%.
  - iloveplants 6mo ago
    [flagged]
    - trollbridge 6mo ago
      The "No Response" category might end up being a bit over-sampled.
  - r_p4rk 6mo ago
    I don't see how this makes the figure any less accurate?
    - ButlerianJihad 6mo ago
      I would say that this actually does something remarkable to the statistic. Every child born with Down Syndrome must be highly valued and wanted, and their parents are likely to be strongly pro-life and invested in their human dignity. Any child who was likely to be considered a burden or troublesome, simply didn't make it. So, you end up with a self-selecting population where the children really have been formed with an optimistic outlook on life, and their parents really did foster environments where they can live happily, and be nurtured despite the disability and obstacles that come up. It is very nearly a talking point in favor of abortion: that if these babies are truly wanted and loved, they are not being born into a life of abuse, neglect, or disadvantage, which would be a risk for the ones who never made it at all.
- OkayPhysicist 6mo ago
  It's fantastic that we've reached a point where Down syndrome isn't a rather imminent death sentence, and that people are able to live fulfilling lives despite their disability. But it's still a profound disability that leads to health complications that necessitate significant medical interventions to achieve a lifespan that's still reduced by ~10 years. Only about a third of the afflicted can live by themselves.
- refulgentis 6mo ago
  That 99% number is wrong. Additionally, it should set off alarms that the argument implies we should give people Down Syndrome. Using it to argue against helping people with Down syndrome is worse. The authors spell out why its wrong. [1] Their sample was exclusively from DS nonprofit mailing lists, got a 17% response rate, with a median household income of $100K, (2x median), and as they wrote, the results are likely "a positive overrepresentation" because people with severe problems are least likely to participate. On top of that, decades of research [2][3][4] document that people with intellectual disabilities disproportionately answer "yes" to whatever you ask them, and this survey had "Yes" as the first option on every scale. If you take the number at face value, people with DS are the happiest demographic ever measured, crushing the OECD average of ~67% [5]. Using happiness to argue against helping people is wrong because it papers over what Down syndrome actually is, a physical ailment. About half of people with DS have congenital heart defects. Alzheimer's incidence exceeds 90%. Life expectancy is around 60 [6][7][8]. And the suffering isn't contained to the individual. My sister was disabled. It consumed my family. Research confirms this isn't unusual: parents of children with DS show significantly elevated stress [9], siblings become caregivers young [10]. A self-reported happiness survey doesn't capture any of that. It's not the whole picture. It's the one corner of the picture that's easy to look at. [1] https://pmc.ncbi.nlm.nih.gov/articles/PMC3740159/ https://pmc.ncbi.nlm.nih.gov/articles/PMC3740159/ ; [2] https://pubmed.ncbi.nlm.nih.gov/7231176/ https://pubmed.ncbi.nlm.nih.gov/7231176/ ; [3] https://www.researchgate.net/publication/11551964 https://www.researchgate.net/publication/11551964 ; [4] https://pmc.ncbi.nlm.nih.gov/articles/PMC3044819/ https://pmc.ncbi.nlm.nih.gov/articles/PMC3044819/ ; [5] https://www.oecd.org/en/publications/society-at-a-glance-2024_918d8db3-en/full-report/life-satisfaction_6cbc39c3.html https://www.oecd.org/en/publications/society-at-a-glance-202... ; [6] https://pmc.ncbi.nlm.nih.gov/articles/PMC12812862/ https://pmc.ncbi.nlm.nih.gov/articles/PMC12812862/; [7] https://www.nia.nih.gov/health/alzheimers-causes-and-risk-factors/alzheimers-disease-people-down-syndrome https://www.nia.nih.gov/health/alzheimers-causes-and-risk-fa... ; [8] https://www.cdc.gov/birth-defects/living-with-down-syndrome/index.html https://www.cdc.gov/birth-defects/living-with-down-syndrome/... ; [9] https://pmc.ncbi.nlm.nih.gov/articles/PMC8911183/ https://pmc.ncbi.nlm.nih.gov/articles/PMC8911183/ ; [10] https://journals.sagepub.com/doi/10.1177/10848223211027861 https://journals.sagepub.com/doi/10.1177/10848223211027861
  - 6mo ago
- porridgeraisin 6mo ago
  Sure, but given the choice to not have down syndrome, I'm sure they will choose it. Were they given the choice? Not as a hypothetical. But in front of their eyes.
- m3kw9 6mo ago
  You got downvoted because people fail to see from both sides. The people outside of course would compare and say this is the worse outcome, fix it no matter what, but once the person already have it, from their perspective, what do they think about it? Do they also compare, but maybe they cannot make that decision clearly, but it's also their choice so there is room to debate.
  - Glemllksdf 6mo ago
    If there is no real downside to it, its not even a debate. People with down syndrom have an avg iq from 50-60 which means that our society do not see them as independent human beings who are allowed to make all decisions themselves. Also people with down syndrom do have reduced life expectency. In 1960 it was 10 now its at 60 (heart issues).
- CooCooCaCha 6mo ago
  If I told you I put a chemical into the water supply that gave people brown hair you’d probably think I am weird and stupid but not evil. If I told you the chemical gave people down syndrome you’d probably think I am evil. Whenever these topics come up there’s always people saying things like “but what if people like it?” And I can’t help but wonder, really? Are we really having this conversation? The answers are obvious so why pretend they’re not? I don’t believe anybody actually thinks this way.
  - pixl97 6mo ago
    >I don’t believe anybody actually thinks this way. Oh, there are far too many people that do. I mostly call them the "Hell for you, heaven for me" bunch, the doublethink/cognitive dissonance in so many is very very strong. https://joycearthur.com/abortion/the-only-moral-abortion-is-my-abortion/ https://joycearthur.com/abortion/the-only-moral-abortion-is-... “The Only Moral Abortion is My Abortion” is a common example of this behavior.
    - nathan_compton 6mo ago
      I think this is a deeply flawed interpretation of the original commenter's post. They are suggesting that we think very carefully about imposing our standards of what constitutes a "good" person on the unborn. I don't see the problem, honestly.
      - pixl97 6mo ago
        If humanity had the ability to think very carefully then the world would be a much different place. The number one rule of thinking about the unborn would be thinking about those who are living first.
  - almostjazz 6mo ago
    If you force something major and permanent on somebody without their consent for no good reason, of course it would be evil. It would be evil to force somebody gay to be straight and it would be evil to force somebody straight to be gay, that has nothing to do with the goodness or badness of being straight or gay. Hair dye is temporary.
- pixel_popping 6mo ago
  99% doesn't make sense, not even 99% of people without Down syndrome are happy (far from it I believe).
  - almostjazz 6mo ago
    What exactly is logically impossible about people with down syndrome being happier on average than those without it?
    - pixel_popping 6mo ago
      It could be true because their surrounding/family... would take care better of them than the average person, that I might understand, but still, it's really a stretch. can you really say you're happy with something when you don't know what life without it looks like? You adapt. You make peace with it. That's human nature. Doesn't mean it's the best option.
      - deleted 6mo ago
        [deleted]
    - lynx97 6mo ago
      It would break the feeling of superiority of people without that disability. Fact. So they can't believe it.
      - deleted 6mo ago
        [deleted]
      - michaelmrose 6mo ago
        People with legs are objectively superior to people born without legs. This doesn't imply those without have no value but it would be pretty silly to deliberately bring people into the world without legs if you could easily prevent or fix the problem
  - eucyclos 6mo ago
- Scarblac 6mo ago
  But it's only possible for them to lead good lives when their parents basically dedicate the rest of their own lives to caring for them, I think?
  - Karawebnetwork 6mo ago
    Individuals have very different abilities and needs. Some are able to drive and work independently while others require ongoing support.
- lynx97 6mo ago
  A similar statistic applies to many disabilities. If you give people a few years of time, after they acquired a disability, studies show their happiness isn't substantially different from a person without a disability. Grief comes from lack of accessibility and society failing to support us. But not from the actual situation. I have to explain this every other week, to a non-disabled person that tries to tell me how bad my life must be. Its a well known phenomenon. And a total break of boundaries. Imagine someone walking up to a woman and tellign her they are sorry for her being born as a woman? Not imaginable. But happens with people with disabilities all the time.
  - bulbar 6mo ago
    This sounds a bit like you dislike the lack of understanding, which itself is based on lack of understanding. On the other hand I agree that commenting on ones disability is a break of boundaries in most contexts. One should quite often avoid to comment on traits in general that are irrelevant for the context or the conversation.
    - lynx97 6mo ago
      It is not about understanding, it is about not even trying to and just telling a complete stranger how you think they have it bad. That is, as you identified, a break of boundaries. And, frankly, if someone breaks into your house, you are not obligated to "understand" them. You just know they are shitty humans.
  - YurgenJurgensen 6mo ago
    If the problem is lack of support from society, you can always go and live off the grid. No artificial barriers there.
- Glemllksdf 6mo ago
  They have a significant reduced live span and are far away from the normal population. They also can't reproduce (at least woman, only with very high risk). Most people don't want to be unique, they want to be a part of the rest of the herde. Its objectivly better to not have down syndrom. And before i get downvoted: My stand doesn't mean i look down on peole with down syndrom. These two viewpoints are not exclusive. The same for the decision to abort a fetus with down syndrom doesn't mean that someone decided this, would look down on people with down syndrom.
- pc86 6mo ago
  > It would be interesting to understand what people with down syndrome feel about this. Would it? > Would they all want what makes them unique turned off? Having a disability doesn't make you unique, it makes you disabled. There is a difference. > 99% of people with Down syndrome were happy with their lives; 97% liked who they are; 96% liked how they looked; 99% expressed love for their families; 97% liked their brothers and sisters; 86% felt they could make friends easily. Survey their parents, who are almost certainly their full-time caregivers, if they are "happy their child has Down syndrome."
  - EA-3167 6mo ago
    If the kinds survive long enough to outlive their parents as many do now, ask them again how happy they are once their home life transitions into an institutional one.
  - kakacik 6mo ago
    Yeah thats why all new expecting parents (here in Switzerland at least) have blood checks for exactly this and there is a reason its done before crossing the legal limit for abortion. Respect to every single parent who does their best for their kids, but raising kids these days in western society is very hard and taxing even in best case scenario.
    - BrandoElFollito 6mo ago
      [flagged]
- kstrauser 6mo ago
  > Most people with down syndrome live happy, fulfilling lives. Correction: the people with Down Syndrome who are capable of meaningfully responding to the question answered a certain way on one survey. Down's affects different people differently. There are plenty of people who don't have the mental facilities to understand the question, let alone respond. I've seen this kind of argument with autism, too. People here on HN will point out that they were diagnosed with autism and still have rich, meaningful lives. I don't doubt that for one moment! Still, my family lived next to a family with a profoundly autistic, nonverbal kid, and their lives were hard. The parents are lovely people but they were at their wits' end dealing with the consequences of his condition. When people talk about nebulous things like "a cure for autism", they don't mean a way to help the HN folks who have jobs and friends and families. They're talking about my next door neighbor who liked to take off his pants and run around naked outside. I imagine it's the same here. There's the occasional news story about someone with Down Syndrome graduating college and getting married. They're doing fine. It'd still be nice to find a way to help those who'd never be able to make it to kindergarten.
  - BrandoElFollito 6mo ago
    I agree. I have two friends with light autism that does not impact their mental faculties (the old Asperger's) and they have happy lives because they are different enough to be interesting. Work, family, hobbies, everything. You push this difference a bit more and it becomes hell. For them and for the others.
  - protocolture 6mo ago
    I have a kiddo with (very likely genetically and behaviourally, but not yet diagnosed by a psych) adhd. He runs us ragged. Love the bugger to death but he is a handful. We had him at a McDonalds playground the other day, and a nonverbal autistic kid came in escorted by a parent. He immediately got overstimulated and screamed. And ran out. He started doing laps of the McDonalds. Every time he would pass the play area, his parents would gently guide him towards it, then he would bugger off out the front door again. He did like 12 laps with his father, 12 laps with his grandfather, then 12 laps with his mother, and eventually he came back to the playground and goofed off a bit with his father again. I could clearly see they were drilled on this behaviour and used to take turns minding him. They very clearly love their son. But they really don't deserve to have a kid more than 1000 times more difficult than I can even imagine. Like even shifting that kids range a bit so that he could tolerate more play time, and do less laps of the building would help everyone involved. He wouldn't be losing some valuable element of his identity for that to happen. Whereas my kid might have trouble paying attention to the boring bits in school and want to run around a lot. I am not pining for a cure. We might medicate if it becomes an issue. Its hardly worth talking about in comparison.
- inglor_cz 6mo ago
  As of now, the overwhelming majority of future parents who learn that their baby is going to suffer from Downs decide to abort it. So 99 per cent of would-be Downs may not get to comment on their enjoyment of life at all. IIRC there are countries and years without a single Down syndrome sufferer born alive. An effective treatment for the condition could change these stats.
- tristor 6mo ago
  > 99% of people with Down syndrome were happy with their lives; I don't believe this number for a second, but let's just assume it's true. Why does that matter? We know from an abundance of research about both the Disability Paradox and that specifically people with intellectual disabilities which are common comorbidities with Down's Syndrome express elevated levels of happiness compared to the general population in part because they lack the necessary faculties to understand their situation. "Ignorance is bliss." Arguing against a cure that could happen shortly after birth for a debilitating disability on the basis of people reporting high levels of happiness is patently absurd.
bonsai_spool 6mo ago
This is very clever - the X chromosome has a mechanism to shut itself down (which makes sense; otherwise cells in women would have twice as many gene products from the X chromosome as cells from men). The linked research report[1] uses that mechanism, Xist, to shutdown chromosome 21, the extra chromosome whose presence causes Down syndrome. In its present form, it would need to be optimized for each potential patient and is unlikely to be used as a treatment paradigm, but the biological approach is clever. [1] https://www.pnas.org/doi/10.1073/pnas.2517953123 https://www.pnas.org/doi/10.1073/pnas.2517953123
- sheept 6mo ago
  > the X chromosome has a mechanism to shut itself down (which makes sense; otherwise cells in women would have twice as many gene products from the X chromosome as cells from men). You can see this visually because not the same X chromosome is deactivated in all cells: it's what gives calico cats their color (almost all of them are female).
  - dreamcompiler 6mo ago
    Human women have stripey skin too, but you can't see it under normal light because unlike cats, skin tone in humans is not controlled by the X chromosome. https://www.youtube.com/watch?v=BD6h-wDj7bw&t=225s https://www.youtube.com/watch?v=BD6h-wDj7bw&t=225s
    - rendaw 6mo ago
      That video seems to imply you can't see it under any light and the image there is pure visualization.
      - krige 6mo ago
        AFAIR this comes up visually when infected with certain diseases.
    - shevy-java 6mo ago
mark-frost 6mo ago
[flagged]
- bonsai_spool 6mo ago
  This is AI generated
- deleted 6mo ago
  [deleted]
memonkey 6mo ago
I am slightly reminded of Gattaca, the story of which is that certain people are discriminated based on their DNA. Society is built, in general, excluding certain people due to their disabilities. Whether or not a blind person can find meaning or enjoy life has road blocks but is not impossible. Science can provide technologies to potentially improve people's lives -- cochlear implants for those with hearing loss, for example. There are ongoing philosophical discussions of whether or not these technologies and scientific discoveries are actually harming or helping those with these disabilities and the broader discussion of 'normalizing' society at large (I don't want to use the term eugenics).
- colechristensen 6mo ago
  There are arguments about various "conditions" being diseases or not, Down Syndrome really isn't one of them.
- hgoel 6mo ago
  Recognizing that certain mutations very blatantly reduce a person's quality of life and making it possible to revert those mutations does not require treating the people who have not had those mutations reverted as lesser. Thinking of them as lesser leads to a society that prefers to drag each other down instead of lifting each other up.
  - TurdF3rguson 6mo ago
    I don't know about this argument because they seem a lot happier than I am. That's not to say that it's unreasonable to value intelligence over happiness, but framing it as quality of life seems off.
    - amunozo 6mo ago
      I had a uncle with Down syndrome. He was the sweetest and funniest person, we remember him every day more than 10 years after he passed away. Down syndrome carries a lot of physical health problems like heart or lung diseases which make their life very painful. He suffered from lung problems since he was 18 until he passed away at 49, living in a lot of pain and being a big burden to my mum and my grandma, who took care of him. Still, it's true, he never lost his smile and love her sister and mother back as much as it's possible, giving all of us who lived with him a lot of joy. I am very conflicted with these kind of issues, but I think I am of the opinion that it's better to prevent this suffering, but once they're already here we should make their life as easier as possible.
Metacelsus 6mo ago
If they're going to all that effort to make allele-specific guides why not just cut out the centromere and eliminate the chromosome entirely? This seems like an overly complicated solution.
- russdill 6mo ago
  My understanding is that crispr is less like a scalpel and more like a chainsaw. Great care just be taken to avoid introducing cancer causing mutations.
  - colechristensen 6mo ago
    I wouldn't characterize it like that. It makes mistakes. It's a scalpel in shaky hands. When it works correctly it is very precise but just not 100% reliably. in vitro there are various techniques where you use crispr on a cell line and then purify it by killing off the cells with errors and only then implant them in vivo... well there are errors and among other effects are potential cancer
- irjustin 6mo ago
  I wondered the same thing and according to Gemini a chromosome is massive vs a few genes. Cutting it out with crispr is possible, but it's too big of a change and would lead to cell death rendering whatever change either useless or kills the host given the possible stage this treatment could be delivered at.
  - samus 6mo ago
    Since the presence of that chromosome causes problems in an organism that functions normally with just two of these chromosomes, the change is actually not that big. And the therapy might also not be intended for adults or even children - most of the developmental impediments have already happened at that stage, and neither cutting out the extra chromosome or silencing it will fix this up.
  - ceejayoz 6mo ago
    Now ask Gemini what chromosomal anomaly causes Downs. It will likely be enlightening.
shevy-java 6mo ago
After skimming through, one obvious question follows: How can they ensure that (only) one out of three chromosomes only, have XIST integrated? (I assume they can target these three chromosomes due to the CRISPR RNA.) So down syndrome is trisomy 21, aka three chromosomes 21. Say you have to modify a billion cells, just to give a number. Well, how can you ensure that all those have one XIST gene that is also active (otherwise it would be pointless; XIST produces a RNA which in turn silences the X chromosome by coating it)? Inserting new genes is nothing new, that is already ancient technology at this point in time. https://en.wikipedia.org/wiki/XIST https://en.wikipedia.org/wiki/XIST
AussieWog93 6mo ago
[flagged]
tosti 6mo ago
[flagged]
kriro 6mo ago
Great achievement. Sometimes I imagine a world where the LLM-money, will and time was funneled into more aggressive CRISPR research and medical advances in general. If I want to go full sci-fi I even imagine cloning.
- Cthulhu_ 6mo ago
  Cloning isn't even sci-fi or imaginary, just morally questionable and... variably legal (https://en.wikipedia.org/wiki/Human_cloning#Legal_status_of_human_therapeutic_cloning_maps https://en.wikipedia.org/wiki/Human_cloning#Legal_status_of_...). Same goes for gene editing / designer babies / eugenics, which overlaps strongly with the subjects in this discussion.
  - akramachamarei 6mo ago
    Let's not conflate eugenics with gene editing or "designer babies." On the contrary, there is little overlap between eugenics and any of the three other topics, but for the vaguest vernacular sense.
voidUpdate 6mo ago
I have very conflicted feelings about this sort of thing. On the one hand, Down's syndrome can make life very hard, for both the person with it, and their carers and the people around them. I can imagine that some people would have preferred it if they were able to "cure" it. I've often felt in the past that I would have preferred to have been born without autism and ADHD, and while I've been coping a little better with it nowadays, it definitely had a large impact on my childhood, and I know my parents struggled with it a lot. On the other hand, this feels a bit like eugenics, and a slippery slope towards designer babies where you can pick and choose their attributes. I'm of the opinion that we should embrace the full diversity of human life, and if you can just cut out the parts of your children you don't like, that feels quite iffy to me
- c048 6mo ago
  The full diversity of life sounds wonderful, as long as you're not the one suffering painful, disfiguring or crippling conditions.
  - voidUpdate 6mo ago
    I am the one suffering from multiple of those conditions
    - anhner 6mo ago
      I'm sorry to hear that. So would you like others to suffer from them as well if given the choice?
      - voidUpdate 6mo ago
        If they had the choice to not suffer, and they wanted to take it, then I think it's their decision to make, and not anyone else's
        Cthulhu_ 6mo ago
        But the moral conundrum here is that they can't choose untill well after they're born, meaning the parents are the ones that need to make the decision.
equinox6380 6mo ago
hgoel 2 minutes ago | parent | context | on: CRISPR takes important step toward silencing Down ... I chose to call it quality of life because I don't think that simply being happy is enough to have quality of life, but I don't agree that it's about valuing intelligence over happiness. It's a condition they, and their family, have to live with their entire life. You can't really be permanently sad about a condition you have literally been born with and can't expect to change. Meanwhile, there are conditions that significantly decrease quality of life even though one's intelligence is unaffected. I think the factor is better described as choice. There are a large number of things a person with Downs just does not have the choice to do differently.

225 points by amichail 6mo ago

JimmyBuckets 6mo ago

[flagged]

ButlerianJihad 6mo ago
> 99% are happy Unfortunately, that's not entirely accurate. 50-90% of babies with diagnosed Down Syndrome are aborted before having a chance to be born and enjoy their lives. In Iceland, that figure is 100%.
- iloveplants 6mo ago
  [flagged]
  - trollbridge 6mo ago
    The "No Response" category might end up being a bit over-sampled.
- r_p4rk 6mo ago
  I don't see how this makes the figure any less accurate?
  - ButlerianJihad 6mo ago
    I would say that this actually does something remarkable to the statistic. Every child born with Down Syndrome must be highly valued and wanted, and their parents are likely to be strongly pro-life and invested in their human dignity. Any child who was likely to be considered a burden or troublesome, simply didn't make it. So, you end up with a self-selecting population where the children really have been formed with an optimistic outlook on life, and their parents really did foster environments where they can live happily, and be nurtured despite the disability and obstacles that come up. It is very nearly a talking point in favor of abortion: that if these babies are truly wanted and loved, they are not being born into a life of abuse, neglect, or disadvantage, which would be a risk for the ones who never made it at all.
OkayPhysicist 6mo ago
It's fantastic that we've reached a point where Down syndrome isn't a rather imminent death sentence, and that people are able to live fulfilling lives despite their disability. But it's still a profound disability that leads to health complications that necessitate significant medical interventions to achieve a lifespan that's still reduced by ~10 years. Only about a third of the afflicted can live by themselves.
refulgentis 6mo ago
That 99% number is wrong. Additionally, it should set off alarms that the argument implies we should give people Down Syndrome. Using it to argue against helping people with Down syndrome is worse. The authors spell out why its wrong. [1] Their sample was exclusively from DS nonprofit mailing lists, got a 17% response rate, with a median household income of $100K, (2x median), and as they wrote, the results are likely "a positive overrepresentation" because people with severe problems are least likely to participate. On top of that, decades of research [2][3][4] document that people with intellectual disabilities disproportionately answer "yes" to whatever you ask them, and this survey had "Yes" as the first option on every scale. If you take the number at face value, people with DS are the happiest demographic ever measured, crushing the OECD average of ~67% [5]. Using happiness to argue against helping people is wrong because it papers over what Down syndrome actually is, a physical ailment. About half of people with DS have congenital heart defects. Alzheimer's incidence exceeds 90%. Life expectancy is around 60 [6][7][8]. And the suffering isn't contained to the individual. My sister was disabled. It consumed my family. Research confirms this isn't unusual: parents of children with DS show significantly elevated stress [9], siblings become caregivers young [10]. A self-reported happiness survey doesn't capture any of that. It's not the whole picture. It's the one corner of the picture that's easy to look at. [1] https://pmc.ncbi.nlm.nih.gov/articles/PMC3740159/ https://pmc.ncbi.nlm.nih.gov/articles/PMC3740159/ ; [2] https://pubmed.ncbi.nlm.nih.gov/7231176/ https://pubmed.ncbi.nlm.nih.gov/7231176/ ; [3] https://www.researchgate.net/publication/11551964 https://www.researchgate.net/publication/11551964 ; [4] https://pmc.ncbi.nlm.nih.gov/articles/PMC3044819/ https://pmc.ncbi.nlm.nih.gov/articles/PMC3044819/ ; [5] https://www.oecd.org/en/publications/society-at-a-glance-2024_918d8db3-en/full-report/life-satisfaction_6cbc39c3.html https://www.oecd.org/en/publications/society-at-a-glance-202... ; [6] https://pmc.ncbi.nlm.nih.gov/articles/PMC12812862/ https://pmc.ncbi.nlm.nih.gov/articles/PMC12812862/; [7] https://www.nia.nih.gov/health/alzheimers-causes-and-risk-factors/alzheimers-disease-people-down-syndrome https://www.nia.nih.gov/health/alzheimers-causes-and-risk-fa... ; [8] https://www.cdc.gov/birth-defects/living-with-down-syndrome/index.html https://www.cdc.gov/birth-defects/living-with-down-syndrome/... ; [9] https://pmc.ncbi.nlm.nih.gov/articles/PMC8911183/ https://pmc.ncbi.nlm.nih.gov/articles/PMC8911183/ ; [10] https://journals.sagepub.com/doi/10.1177/10848223211027861 https://journals.sagepub.com/doi/10.1177/10848223211027861
- 6mo ago
porridgeraisin 6mo ago
Sure, but given the choice to not have down syndrome, I'm sure they will choose it. Were they given the choice? Not as a hypothetical. But in front of their eyes.
m3kw9 6mo ago
You got downvoted because people fail to see from both sides. The people outside of course would compare and say this is the worse outcome, fix it no matter what, but once the person already have it, from their perspective, what do they think about it? Do they also compare, but maybe they cannot make that decision clearly, but it's also their choice so there is room to debate.
- Glemllksdf 6mo ago
  If there is no real downside to it, its not even a debate. People with down syndrom have an avg iq from 50-60 which means that our society do not see them as independent human beings who are allowed to make all decisions themselves. Also people with down syndrom do have reduced life expectency. In 1960 it was 10 now its at 60 (heart issues).
CooCooCaCha 6mo ago
If I told you I put a chemical into the water supply that gave people brown hair you’d probably think I am weird and stupid but not evil. If I told you the chemical gave people down syndrome you’d probably think I am evil. Whenever these topics come up there’s always people saying things like “but what if people like it?” And I can’t help but wonder, really? Are we really having this conversation? The answers are obvious so why pretend they’re not? I don’t believe anybody actually thinks this way.
- pixl97 6mo ago
  >I don’t believe anybody actually thinks this way. Oh, there are far too many people that do. I mostly call them the "Hell for you, heaven for me" bunch, the doublethink/cognitive dissonance in so many is very very strong. https://joycearthur.com/abortion/the-only-moral-abortion-is-my-abortion/ https://joycearthur.com/abortion/the-only-moral-abortion-is-... “The Only Moral Abortion is My Abortion” is a common example of this behavior.
  - nathan_compton 6mo ago
    I think this is a deeply flawed interpretation of the original commenter's post. They are suggesting that we think very carefully about imposing our standards of what constitutes a "good" person on the unborn. I don't see the problem, honestly.
    - pixl97 6mo ago
      If humanity had the ability to think very carefully then the world would be a much different place. The number one rule of thinking about the unborn would be thinking about those who are living first.
- almostjazz 6mo ago
  If you force something major and permanent on somebody without their consent for no good reason, of course it would be evil. It would be evil to force somebody gay to be straight and it would be evil to force somebody straight to be gay, that has nothing to do with the goodness or badness of being straight or gay. Hair dye is temporary.
pixel_popping 6mo ago
99% doesn't make sense, not even 99% of people without Down syndrome are happy (far from it I believe).
- almostjazz 6mo ago
  What exactly is logically impossible about people with down syndrome being happier on average than those without it?
  - pixel_popping 6mo ago
    It could be true because their surrounding/family... would take care better of them than the average person, that I might understand, but still, it's really a stretch. can you really say you're happy with something when you don't know what life without it looks like? You adapt. You make peace with it. That's human nature. Doesn't mean it's the best option.
    - deleted 6mo ago
      [deleted]
  - lynx97 6mo ago
    It would break the feeling of superiority of people without that disability. Fact. So they can't believe it.
    - deleted 6mo ago
      [deleted]
    - michaelmrose 6mo ago
      People with legs are objectively superior to people born without legs. This doesn't imply those without have no value but it would be pretty silly to deliberately bring people into the world without legs if you could easily prevent or fix the problem
- eucyclos 6mo ago
Scarblac 6mo ago
But it's only possible for them to lead good lives when their parents basically dedicate the rest of their own lives to caring for them, I think?
- Karawebnetwork 6mo ago
  Individuals have very different abilities and needs. Some are able to drive and work independently while others require ongoing support.
lynx97 6mo ago
A similar statistic applies to many disabilities. If you give people a few years of time, after they acquired a disability, studies show their happiness isn't substantially different from a person without a disability. Grief comes from lack of accessibility and society failing to support us. But not from the actual situation. I have to explain this every other week, to a non-disabled person that tries to tell me how bad my life must be. Its a well known phenomenon. And a total break of boundaries. Imagine someone walking up to a woman and tellign her they are sorry for her being born as a woman? Not imaginable. But happens with people with disabilities all the time.
- bulbar 6mo ago
  This sounds a bit like you dislike the lack of understanding, which itself is based on lack of understanding. On the other hand I agree that commenting on ones disability is a break of boundaries in most contexts. One should quite often avoid to comment on traits in general that are irrelevant for the context or the conversation.
  - lynx97 6mo ago
    It is not about understanding, it is about not even trying to and just telling a complete stranger how you think they have it bad. That is, as you identified, a break of boundaries. And, frankly, if someone breaks into your house, you are not obligated to "understand" them. You just know they are shitty humans.
- YurgenJurgensen 6mo ago
  If the problem is lack of support from society, you can always go and live off the grid. No artificial barriers there.
Glemllksdf 6mo ago
They have a significant reduced live span and are far away from the normal population. They also can't reproduce (at least woman, only with very high risk). Most people don't want to be unique, they want to be a part of the rest of the herde. Its objectivly better to not have down syndrom. And before i get downvoted: My stand doesn't mean i look down on peole with down syndrom. These two viewpoints are not exclusive. The same for the decision to abort a fetus with down syndrom doesn't mean that someone decided this, would look down on people with down syndrom.
pc86 6mo ago
> It would be interesting to understand what people with down syndrome feel about this. Would it? > Would they all want what makes them unique turned off? Having a disability doesn't make you unique, it makes you disabled. There is a difference. > 99% of people with Down syndrome were happy with their lives; 97% liked who they are; 96% liked how they looked; 99% expressed love for their families; 97% liked their brothers and sisters; 86% felt they could make friends easily. Survey their parents, who are almost certainly their full-time caregivers, if they are "happy their child has Down syndrome."
- EA-3167 6mo ago
  If the kinds survive long enough to outlive their parents as many do now, ask them again how happy they are once their home life transitions into an institutional one.
- kakacik 6mo ago
  Yeah thats why all new expecting parents (here in Switzerland at least) have blood checks for exactly this and there is a reason its done before crossing the legal limit for abortion. Respect to every single parent who does their best for their kids, but raising kids these days in western society is very hard and taxing even in best case scenario.
  - BrandoElFollito 6mo ago
    [flagged]
kstrauser 6mo ago
> Most people with down syndrome live happy, fulfilling lives. Correction: the people with Down Syndrome who are capable of meaningfully responding to the question answered a certain way on one survey. Down's affects different people differently. There are plenty of people who don't have the mental facilities to understand the question, let alone respond. I've seen this kind of argument with autism, too. People here on HN will point out that they were diagnosed with autism and still have rich, meaningful lives. I don't doubt that for one moment! Still, my family lived next to a family with a profoundly autistic, nonverbal kid, and their lives were hard. The parents are lovely people but they were at their wits' end dealing with the consequences of his condition. When people talk about nebulous things like "a cure for autism", they don't mean a way to help the HN folks who have jobs and friends and families. They're talking about my next door neighbor who liked to take off his pants and run around naked outside. I imagine it's the same here. There's the occasional news story about someone with Down Syndrome graduating college and getting married. They're doing fine. It'd still be nice to find a way to help those who'd never be able to make it to kindergarten.
- BrandoElFollito 6mo ago
  I agree. I have two friends with light autism that does not impact their mental faculties (the old Asperger's) and they have happy lives because they are different enough to be interesting. Work, family, hobbies, everything. You push this difference a bit more and it becomes hell. For them and for the others.
- protocolture 6mo ago
  I have a kiddo with (very likely genetically and behaviourally, but not yet diagnosed by a psych) adhd. He runs us ragged. Love the bugger to death but he is a handful. We had him at a McDonalds playground the other day, and a nonverbal autistic kid came in escorted by a parent. He immediately got overstimulated and screamed. And ran out. He started doing laps of the McDonalds. Every time he would pass the play area, his parents would gently guide him towards it, then he would bugger off out the front door again. He did like 12 laps with his father, 12 laps with his grandfather, then 12 laps with his mother, and eventually he came back to the playground and goofed off a bit with his father again. I could clearly see they were drilled on this behaviour and used to take turns minding him. They very clearly love their son. But they really don't deserve to have a kid more than 1000 times more difficult than I can even imagine. Like even shifting that kids range a bit so that he could tolerate more play time, and do less laps of the building would help everyone involved. He wouldn't be losing some valuable element of his identity for that to happen. Whereas my kid might have trouble paying attention to the boring bits in school and want to run around a lot. I am not pining for a cure. We might medicate if it becomes an issue. Its hardly worth talking about in comparison.
inglor_cz 6mo ago
As of now, the overwhelming majority of future parents who learn that their baby is going to suffer from Downs decide to abort it. So 99 per cent of would-be Downs may not get to comment on their enjoyment of life at all. IIRC there are countries and years without a single Down syndrome sufferer born alive. An effective treatment for the condition could change these stats.
tristor 6mo ago
> 99% of people with Down syndrome were happy with their lives; I don't believe this number for a second, but let's just assume it's true. Why does that matter? We know from an abundance of research about both the Disability Paradox and that specifically people with intellectual disabilities which are common comorbidities with Down's Syndrome express elevated levels of happiness compared to the general population in part because they lack the necessary faculties to understand their situation. "Ignorance is bliss." Arguing against a cure that could happen shortly after birth for a debilitating disability on the basis of people reporting high levels of happiness is patently absurd.

bonsai_spool 6mo ago

This is very clever - the X chromosome has a mechanism to shut itself down (which makes sense; otherwise cells in women would have twice as many gene products from the X chromosome as cells from men). The linked research report[1] uses that mechanism, Xist, to shutdown chromosome 21, the extra chromosome whose presence causes Down syndrome. In its present form, it would need to be optimized for each potential patient and is unlikely to be used as a treatment paradigm, but the biological approach is clever. [1] https://www.pnas.org/doi/10.1073/pnas.2517953123 https://www.pnas.org/doi/10.1073/pnas.2517953123

sheept 6mo ago
> the X chromosome has a mechanism to shut itself down (which makes sense; otherwise cells in women would have twice as many gene products from the X chromosome as cells from men). You can see this visually because not the same X chromosome is deactivated in all cells: it's what gives calico cats their color (almost all of them are female).
- dreamcompiler 6mo ago
  Human women have stripey skin too, but you can't see it under normal light because unlike cats, skin tone in humans is not controlled by the X chromosome. https://www.youtube.com/watch?v=BD6h-wDj7bw&t=225s https://www.youtube.com/watch?v=BD6h-wDj7bw&t=225s
  - rendaw 6mo ago
    That video seems to imply you can't see it under any light and the image there is pure visualization.
    - krige 6mo ago
      AFAIR this comes up visually when infected with certain diseases.
  - shevy-java 6mo ago

mark-frost 6mo ago

[flagged]

bonsai_spool 6mo ago
This is AI generated
deleted 6mo ago
[deleted]

memonkey 6mo ago

I am slightly reminded of Gattaca, the story of which is that certain people are discriminated based on their DNA. Society is built, in general, excluding certain people due to their disabilities. Whether or not a blind person can find meaning or enjoy life has road blocks but is not impossible. Science can provide technologies to potentially improve people's lives -- cochlear implants for those with hearing loss, for example. There are ongoing philosophical discussions of whether or not these technologies and scientific discoveries are actually harming or helping those with these disabilities and the broader discussion of 'normalizing' society at large (I don't want to use the term eugenics).

colechristensen 6mo ago
There are arguments about various "conditions" being diseases or not, Down Syndrome really isn't one of them.
hgoel 6mo ago
Recognizing that certain mutations very blatantly reduce a person's quality of life and making it possible to revert those mutations does not require treating the people who have not had those mutations reverted as lesser. Thinking of them as lesser leads to a society that prefers to drag each other down instead of lifting each other up.
- TurdF3rguson 6mo ago
  I don't know about this argument because they seem a lot happier than I am. That's not to say that it's unreasonable to value intelligence over happiness, but framing it as quality of life seems off.
  - amunozo 6mo ago
    I had a uncle with Down syndrome. He was the sweetest and funniest person, we remember him every day more than 10 years after he passed away. Down syndrome carries a lot of physical health problems like heart or lung diseases which make their life very painful. He suffered from lung problems since he was 18 until he passed away at 49, living in a lot of pain and being a big burden to my mum and my grandma, who took care of him. Still, it's true, he never lost his smile and love her sister and mother back as much as it's possible, giving all of us who lived with him a lot of joy. I am very conflicted with these kind of issues, but I think I am of the opinion that it's better to prevent this suffering, but once they're already here we should make their life as easier as possible.

Metacelsus 6mo ago

If they're going to all that effort to make allele-specific guides why not just cut out the centromere and eliminate the chromosome entirely? This seems like an overly complicated solution.

russdill 6mo ago
My understanding is that crispr is less like a scalpel and more like a chainsaw. Great care just be taken to avoid introducing cancer causing mutations.
- colechristensen 6mo ago
  I wouldn't characterize it like that. It makes mistakes. It's a scalpel in shaky hands. When it works correctly it is very precise but just not 100% reliably. in vitro there are various techniques where you use crispr on a cell line and then purify it by killing off the cells with errors and only then implant them in vivo... well there are errors and among other effects are potential cancer
irjustin 6mo ago
I wondered the same thing and according to Gemini a chromosome is massive vs a few genes. Cutting it out with crispr is possible, but it's too big of a change and would lead to cell death rendering whatever change either useless or kills the host given the possible stage this treatment could be delivered at.
- samus 6mo ago
  Since the presence of that chromosome causes problems in an organism that functions normally with just two of these chromosomes, the change is actually not that big. And the therapy might also not be intended for adults or even children - most of the developmental impediments have already happened at that stage, and neither cutting out the extra chromosome or silencing it will fix this up.
- ceejayoz 6mo ago
  Now ask Gemini what chromosomal anomaly causes Downs. It will likely be enlightening.

shevy-java 6mo ago

After skimming through, one obvious question follows: How can they ensure that (only) one out of three chromosomes only, have XIST integrated? (I assume they can target these three chromosomes due to the CRISPR RNA.) So down syndrome is trisomy 21, aka three chromosomes 21. Say you have to modify a billion cells, just to give a number. Well, how can you ensure that all those have one XIST gene that is also active (otherwise it would be pointless; XIST produces a RNA which in turn silences the X chromosome by coating it)? Inserting new genes is nothing new, that is already ancient technology at this point in time. https://en.wikipedia.org/wiki/XIST https://en.wikipedia.org/wiki/XIST

AussieWog93 6mo ago

[flagged]

tosti 6mo ago

[flagged]

kriro 6mo ago

Great achievement. Sometimes I imagine a world where the LLM-money, will and time was funneled into more aggressive CRISPR research and medical advances in general. If I want to go full sci-fi I even imagine cloning.

Cthulhu_ 6mo ago
Cloning isn't even sci-fi or imaginary, just morally questionable and... variably legal (https://en.wikipedia.org/wiki/Human_cloning#Legal_status_of_human_therapeutic_cloning_maps https://en.wikipedia.org/wiki/Human_cloning#Legal_status_of_...). Same goes for gene editing / designer babies / eugenics, which overlaps strongly with the subjects in this discussion.
- akramachamarei 6mo ago
  Let's not conflate eugenics with gene editing or "designer babies." On the contrary, there is little overlap between eugenics and any of the three other topics, but for the vaguest vernacular sense.

voidUpdate 6mo ago

I have very conflicted feelings about this sort of thing. On the one hand, Down's syndrome can make life very hard, for both the person with it, and their carers and the people around them. I can imagine that some people would have preferred it if they were able to "cure" it. I've often felt in the past that I would have preferred to have been born without autism and ADHD, and while I've been coping a little better with it nowadays, it definitely had a large impact on my childhood, and I know my parents struggled with it a lot. On the other hand, this feels a bit like eugenics, and a slippery slope towards designer babies where you can pick and choose their attributes. I'm of the opinion that we should embrace the full diversity of human life, and if you can just cut out the parts of your children you don't like, that feels quite iffy to me

c048 6mo ago
The full diversity of life sounds wonderful, as long as you're not the one suffering painful, disfiguring or crippling conditions.
- voidUpdate 6mo ago
  I am the one suffering from multiple of those conditions
  - anhner 6mo ago
    I'm sorry to hear that. So would you like others to suffer from them as well if given the choice?
    - voidUpdate 6mo ago
      If they had the choice to not suffer, and they wanted to take it, then I think it's their decision to make, and not anyone else's
      - Cthulhu_ 6mo ago
        But the moral conundrum here is that they can't choose untill well after they're born, meaning the parents are the ones that need to make the decision.

equinox6380 6mo ago

hgoel 2 minutes ago | parent | context | on: CRISPR takes important step toward silencing Down ... I chose to call it quality of life because I don't think that simply being happy is enough to have quality of life, but I don't agree that it's about valuing intelligence over happiness. It's a condition they, and their family, have to live with their entire life. You can't really be permanently sad about a condition you have literally been born with and can't expect to change. Meanwhile, there are conditions that significantly decrease quality of life even though one's intelligence is unaffected. I think the factor is better described as choice. There are a large number of things a person with Downs just does not have the choice to do differently.