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).
What strikes me most about this is the elegance of borrowing an existing biological mechanism. The body already knows how to silence an entire chromosome — every female cell does it to one X chromosome via XIST. The insight here isn't "we invented a way to silence a chromosome" — it's "we figured out how to redirect a process that's been running in half the population for millions of years."
The 20-40% integration rate is the real bottleneck though. For a therapeutic application you'd need near-complete coverage, especially in neural tissue where the cognitive effects of trisomy 21 are most significant. Still, going from "theoretically possible" to "works in 20-40% of cell lines" is a massive leap. The gap from there to clinical viability is smaller than the gap they already crossed.
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.
It would be interesting to understand what people with down syndrome feel about this. Would they all want what makes them unique turned off?
Most people with down syndrome live happy, fulfilling lives. A google search will show studies that show 99% are happy with their lives. E.g.
https://www.downsyndrome.org.au/about-down-syndrome/statisti...
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.
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.
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.
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.
> 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.
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.
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.
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).
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.
> 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."
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.
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.
We have the same in France and yet there are parents who either do not want to take the test or do not abort.
This is the peak of irresponsibility, borderline criminal
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.
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.
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.
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?
Individuals have very different abilities and needs. Some are able to drive and work independently while others require ongoing support.
99% doesn't make sense, not even 99% of people without Down syndrome are happy (far from it I believe).
What exactly is logically impossible about people with down syndrome being happier on average than those without it?
It would break the feeling of superiority of people without that disability. Fact. So they can't believe it.
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.
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/ ; [2] https://pubmed.ncbi.nlm.nih.gov/7231176/ ; [3] https://www.researchgate.net/publication/11551964 ; [4] https://pmc.ncbi.nlm.nih.gov/articles/PMC3044819/ ; [5] https://www.oecd.org/en/publications/society-at-a-glance-202... ; [6] https://pmc.ncbi.nlm.nih.gov/articles/PMC12812862/; [7] https://www.nia.nih.gov/health/alzheimers-causes-and-risk-fa... ; [8] https://www.cdc.gov/birth-defects/living-with-down-syndrome/... ; [9] https://pmc.ncbi.nlm.nih.gov/articles/PMC8911183/ ; [10] https://journals.sagepub.com/doi/10.1177/10848223211027861
I completely hear your point. We have a close neighbour with a kid with a mental disability which causes her to mentally stay forever 6 years old. She is a happy person but we do see the effects on the parents and sibling and how much care and love they spend. They do it willingly and lovingly, but it still takes a toll. Would they choose differently? I don’t know. But as a parent if I had the chance up front to cure/fix/prevent expression of Down syndrome, I would take it.
Wow, thanks for taking the time to share all this data with such clear points. Much appreciated, especially the personal anecdote to make all this be less academic.
I read their comment, flashback to years of growing up, trying to salvage an unsalvageable situation, and my now non-existent family all came rushing in at once. I saw red, almost posted the one sentence putdown version....glad I took a step back and data-fied it. Learned a bit myself, and I really appreciate you said this. Don't have words for why. Cheers.
I mentioned in another comment here that I lived next to a family dealing with a challenging situation. They have my infinite respect for doing their best with a life-altering condition. I saw, and know, how hard it was for them, but they pressed on. Well, same for you and yours. Thanks for doing what you can.
> 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%.
I don't see how this makes the figure any less accurate?
alright let's go survey those ones too
The "No Response" category might end up being a bit over-sampled.
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.
Kind of a strange example, because yeah I do think it’s evil to inflict your aesthetic preference on everyone’s bodies without consent.
The answers are not obvious. Arguably, putting anything into the water supply is seriously ethically questionable, whether it changes only your hair color or lowers your IQ or raises it, for that matter. People have the right to accept or deny medical treatment. For treatment which occurs before birth clearly they cannot do that, but if you were meditating upon whether to apply a procedure or not, and you had adults who could understand the question and to whom the procedure would have been applied, taking their opinions into consideration on the subject is entirely valid.
You think of a person with Downs' as less than a person without it, clearly. But why should your opinion matter? If we accept treating Downs' in utero, should we accept genetic treatments to lower criminality? What about independent thinking? What about other "inconvenient" personality traits. Like why not allow some "authority" to eliminate any "negative" trait they wish from the population?
Obviously these are extremes and your position that considering the question with respect to Downs' leads to a straightforward conclusion: on balance, it make sense, but I think we should approach any question about modifying people with serious consideration.
>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-...
“The Only Moral Abortion is My Abortion” is a common example of this behavior.
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.
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.
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.
All analogies are flawed and I think you’re taking the wrong message here.
If doctors gave mothers a vaccine that prevented down syndrome, at a high level, that would be the same as putting an anti-down syndrome drug in the water supply.
The point of the example is not about whether putting things in the water supply is good or bad.
All of the arguments in this thread seem to be treating this research's outcome as deleting a person, and applying a corresponding moral judgement thereto. But it is not! I personally find that choosing to not have a child with Down Syndrome by engineering away the possibility in advance is no worse than choosing not to have a child at all, and better than aborting a viable but affected fetus, because no life is ended. I am not a murderer for choosing not to have any child at all because I feel that my genes should not be imposed on another generation, and I am not a Nazi for saying that if I had a child, I would take any available humane steps to ensure it received the best subset of genetic material from the set available to it. I would, in fact, argue that leaving the creation of a whole person who will have to experience life for 80 years to a series of genetic coin flips is morally reprehensible. Just because we've always done it that way doesn't make it desirable or humane. I welcome this development.
I think it's a valid argument to say that people with down syndrome are much happier than those without. Most of them need a society (or at least multiple other people) without that trait to survive, though.
This post is about curing down syndrome though.
Saying “but they’re happy” in this context is implying that we shouldn’t try to cure it, which is obviously ridiculous.
I had the exact same reaction as you but vitriolic, had to take a step back and treat it like a research exercise (in another reply)
Re: "but they're happy" x obviously ridiculous, it hit me 10 minutes in, if we're going off 99% happy, it's absolutely absurd - then the conclusion is we should give everyone down's syndrome.
My initial snap reaction was it must be trolling. But it can't be, if you're looking to stir the pot you don't do it on the 6 comment non-technical post on the second page.
Which kinda makes it more disturbing, to me, because it goes beyond someone not understanding. It's some sort of weird active misunderstanding, like, seeing fun heart-warming Downs syndrome sibling videos on social media is enough for one to assume it's net-good, somehow.