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.
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.
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.
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."
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.
This is the peak of irresponsibility, borderline criminal
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.
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.
You push this difference a bit more and it becomes hell. For them and for the others.
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.
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
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.
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.
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.
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.
The number one rule of thinking about the unborn would be thinking about those who are living first.
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.
Saying “but they’re happy” in this context is implying that we shouldn’t try to cure it, which is obviously ridiculous.
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.
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.
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%.
IIRC there are countries and years without a single Down syndrome sufferer born alive. An effective treatment for the condition could change these stats.
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).