Scientists may have found a way to eliminate chromosome linked to Down syndrome
441 comments
·July 24, 2025puppycodes
mathgeek
> Everyday I passed by the bus stop she would be dancing her heart out to a Britney track waiting for the bus and it made my world a little brighter.
As someone who absolutely loves to "be weird", I often wish the world was so much friendlier to folks like this (other than in a token manner).
maxtaqo
One thing I know for sure is that the person I pass on my way to work always greets me cheerfully, even though I am a stranger to them.
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eleveriven
There's something genuinely beautiful about people who live with that kind of unfiltered joy
Henchman21
And frequently we decide they’re damaged. Seems like its really the rest of us who are damaged.
creakingstairs
Is it just me or do I feel like the society is way more accepting nowadays? I had to pretty much hide who I was during school due to fear of bullying/ not fitting in but most kids these days seem to be able to be themselves in many ways. I agree we can be friendlier though!
fennecbutt
Probably in general, but not as much as you'd think.
For example as a gay dude, people still hate gay guys (lesbians are far more accepted). But they're just much more quiet about it now, and even if they don't hate us we still "gross" many people out, which affects their decisions due to perception of us.
jemmyw
I notice that some of the teens my kids are friends with are pretty weird in ways that would have invited extreme bullying when I was their age and they don't seem to have the same troubles. However, I still hear about some bullying cases. Maybe that's changing for the better too though, when I was their age we seemed to actively hide that we were bullied from adults and now adults are often (ineffectively) involved.
stickfigure
I do think people - and especially kids - are generally nicer and more accepting than they were back in the 80s when I grew up. I wonder if this is related to the fairly dramatic drop in violent crime statistics we've been seeing over the last several decades?
esseph
That really depends on where you are in the world right at this minute.
OJFord
It's just fashion I think - for the last 10-15 years the idea of being a nerd who works for Google or whatever has been relatively cool.
SamPatt
I have two teenagers, and bullying is still extremely common in school.
Perhaps the range of acceptable weirdness has broadened, I'm not sure, but it's discouraging to hear their stories of just how mean kids can be.
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hilsdev
You’re right the world is a lot more accepting. No matter how much things improve and how positive the trajectory though, there will be someone online who tells us it’s not enough
squigz
This person has the support they need (institutional and otherwise) to be healthy and happy and they have something they can connect to and express themselves with. How is that a token manner?
jaapbadlands
That's not what they said.
eleveriven
That kind of joy, personality, and presence is somethin5g you can't quantify in a lab. Whatever this research leads to, I hope it's always guided by compassion
Daub
I run the risk of being downvoted on this issue, but there is a personality type associated with downs syndrome. My experience of living in a community of down syndrome young people certainly supported this, but there has also been quite a bit of research on the matter... search Google Scholar and you will see a ton. In brief: very social, positive minded and very creative. Importantly, this seemed not to be effected by puberty, unlike the autistic kids I have known. The year I spent in there company was a gift.
Edit: user smeej has cited a few papers on this matter.
cornholio
So it's one of the more fun disabilities that lowers IQ to an average of 50 and comes with a laundry list of other chronic risks, not one of those who do the same but also come with depression and violence.
Good to know, that should weigh heavily on the decision of parents not to get genetic testing and choose a Down syndrome life for another person.
go_elmo
Youre right, its a though question. Then again free will and the concept of "self" is an illusion.
Lets see where the world will go in this regard, only time will tell
SarahC_
With this new gene information, we may be able to make every Down's. The world would be a much nicer and happier place.
lukan
Until food runs out.
foolfoolz
we are going to become very good at this. eliminating genetic errors, choosing to be straight, tall, etc
n4r9
Reminds me of that story about the casting of Patrick Stewart as Picard. Apparently Roddenberry originally had in mind a youthful, virogous figure much like William Shatner was for Kirk. So Stewart auditioned in a toupee to compensate for his baldness. An impressed Roddenberry realised that the toupee was pointless. Later when a reporter asked him why baldness hadn't been cured by the 24th Century, he said that society would be so advanced that no one would care anymore.
rbanffy
We need to be extremely careful with what we consider “errors”. We’ve been through this before and it never ends well.
phs318u
...blonde, blue-eyed, round-eyed, strong-jawed, big-dicked, big boobed, you name it, you can have it!
irrational
Five out of six ain’t bad. Though, if my man boobs get a bit bigger…
ben_w
> big-dicked, big boobed
And Facebook is already, with no ironic self-awareness, showing me ads for both.
conradfr
The irony will be that once everybody is that, it won't be attractive.
WA
Homosexuality is not genetic.
bluefirebrand
Interesting.
Where do traits that aren't genetic come from then?
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damion6
[dead]
ghurtado
See, it's stories like this one that make me really question just how ethical it is to completely eliminate Down's from the gene pool. I understand it's the correct medical and scientific thing to do, it's just that it sometimes feels a little bit like eugenics for me.
typewithrhythm
Seeing a minute fraction of their existence is a rubbish way to make a judgement.
Most of they bring to the world is random rage, unspeakable fluids, and unpleasant interactions.
But I guess driving past safari style is fine.
lurk2
Do you live or regularly interact with someone who has Down Syndrome, or have any kind of data that would support the idea that people with Down Syndrome are exceptionally violent?
Biganon
What a terrible thing to say. You have a lot to learn about them.
smeej
What? Are you talking about real, live people with Down Syndrome? Surveys have consistently shown that they and those who live with them (which is no safari) are happier than everyone else. That wouldn't make much sense if "most" of what they bring to the world is "unpleasant interactions."
lincon127
It is eugenics, I just don't see how that's a problem. Eugenics isn't inherently bad, you're just thinking of bad eugenics.
SilasX
Right, there’s eueugenics and dyseugenics.
RamblingCTO
no slippery slope here, nope.
stickfigure
Don't worry, you can still add alcohol to the fetal growth stage to get Epsilons. No need to leave it to chance.
landl0rd
If you marry someone to whom you’re attracted, check she’s mentally stable, reasonably healthy, aka reproductively fit, then you’re engaging in eugenics. Eradicating downs is eugenic. It’s also a good thing.
6502nerdface
Wait what's wrong with voluntary eugenics? Perhaps the fact that something both "feels like eugenics" and is understood as the "correct medical and scientific thing to do" should cause one to reassess any unexamined, knee-jerk, blanket revulsion to the concept of eugenics that one may have.
trhway
Well, the test is simple - would you like to get Dawn chromosome yourself? Or may be have your children get it? I’m sure the answer is No.
jjj123
That is not a simple test. Ask any straight person if they’d want to turn gay, the vast majority would say no. My guess is they’d say no if you asked the same question about their children.
But I’m gay, and while there are pros and cons to it, I wouldn’t trade it for anything in the world. And I don’t think just because someone else doesn’t want to be me is a reasonable bar for eradication.
To be clear, I’m not saying the two are equivalent, just pointing out that you need a better argument than “you don’t want this for yourself or your children, right?”.
b3lvedere
Isn't all life just trying to survive, adapt and overcome?
shadowgovt
FWIW, since Down's is caused by (we're pretty sure) mitotic error, it can't be completely eliminated from the gene pool. 99% of cases did not occur on hereditary lines. With or without the existence of the treatment, Down's cases would continue to surface. So it's in the category of "treatments parents could choose to apply to their offspring," and generally parents get pretty broad leeway there in choice of the kind of offspring they're aiming for (starting with dating the guy with pretty eyes or the girl with the cute hair thing).
... Whether society is mature enough to recognize that in the presence of that treatment, Down's people will still be born and they have every bit the same dignity-of-human-life as the rest of us is a very important question.
vtbassmatt
As the parent of a child with Down syndrome, I really appreciate the way you and the parent comment approached this topic. Thank you.
Tiny nit, in the US it’s “Down syndrome”, not “Down’s”. Apparently we name conditions with a possessive if named for someone with it (“Lou Gehrig’s”) and without the possessive if named for, say, the person who first described the condition in a medical journal.
allthedatas
[dead]
SJC_Hacker
It was well on its way to being eliminated in much of the First World through screening during pregnancy at around 2-3 months. Alot of mothers were electing to terminate the pregnancy and perhaps try again.
Especially much of Europe which didn't quite have the moral objections against abortion that the US does, save for a few countries who still have substantial observant Catholics such as Ireland and Poland.
Here's a story about Iceland https://www.abc.net.au/news/2024-05-01/iceland-prenatal-test...
zarzavat
> Some bioethics experts are concerned
I do have to wonder what goes on in the minds of these people. My sister-in-law has a child with Down's syndrome and the situation basically ruined her life. She can no longer work, so they now struggle on a single income, if her husband were to leave her she would be completely screwed. To what end is that in the continuance of ethics?
smeej
Many ethicists value the continuation of someone's--anyone's--(literal) life over the continuation of anyone else's lifestyle.
I'm not arguing whether you should or shouldn't agree with them, nor saying anything about in which cases. It's just one of the primary things going on in the minds of those people, and you said you wondered.
advisedwang
Down screening is done at like 16 weeks. At 16 weeks that's hardly a life.
Also you are being very dismissive by hand-waving away lifestyle. Quality of life is a significant factor in medical decisions. Many people choose short high-qol lives over longer low-qol lives.
rasmul
I love animals, I love people, I love dancing Down-syndrome people.
The question is who is responsible for them and what it means to those or society.
Let those ethicists take care of a Down-syndrome person one year, then ask them again.
About lifestyle and such.
Ethicize can everybody. The real questions are more down to earth. Pun not intended.
By the way, my partner and I are of different views and because of her I know there are very different types, some are totally self sufficient and work.
As always, truth is somewhere in between. Do not eradicate, let people choose. There will be people who terminate, others will not. Let those people pay a share who take the risk and then put their child to social care. But be human and society should help and pay a big ahsre too.
How much? I have no idea. We would need the exact numbers, other social projects, a good discussion forum, tests before people comment. I probably have no ida about Down syndrome and still, I am just being commenting.
I think generally a big misunderstanding that there is one solution and one way. We should always just find a middle way, listening to each other, learning, voting, discussing. Keeping freedom of choice and responsibility of own choices in balance.
mbar84
I've heard this expressed as existence versus life. Nobody owes it to to give up their life for the life of another, let alone if all that can be hoped for is the mere existence of another.
llmthrow103
I understand where they're coming from, but I believe it comes from a place of local and specific concern (the child with Down's syndrome) and not the wider impact.
The way I think about it; 10-20% of known pregnancies (and a larger number of all pregnancies) end in miscarriage, the majority of which are due to genetic errors and chromosomal abnormalities that, unfortunately, mean the fetus wasn't viable to begin with.
While some genetic defects don't kill the baby in the womb, the resulting baby is not healthy and will never be self-sufficient. Terminating these pregnancies lets the couple try again and gives the chance for another, healthy baby to come into the world, and possibly more because they won't have the burden of a many-orders-of-magnitude more difficult and perpetually child to raise.
jajko
It is a sound pragmatic logic (ignoring few corner cases), but people deciding things in such hard situation often don't decide purely on logic, if at all.
jedimastert
> She can no longer work, so they now struggle on a single income, if her husband were to leave her she would be completely screwed.
This is not inherent to Down's syndrome, this is because we live in a society that could easily support people but doesn't.
jabjq
It's very easy to ask everyone else to support your financial decisions.
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kulahan
Because it's a form of eugenics, however far down the spectrum it may be.
edit: I mean to imply here that the overton window is shifted, basically.
derektank
Correcting what is essentially a developmental defect (albeit a defect that occurs in the germ cells rather than in the womb) isn't eugenics. It's not caused by any genes carried by the parents, it's caused by a failure in the development process, specifically meiosis. Would preventing fetal alcohol syndrome be eugenics? It's caused by changes in gene expression from alcohol exposure after all.
russdill
There's a huge range of chromosomal anomalies. You don't see the vast majority of them because the pregnancy self terminates. It's something the human body is already doing.
People with down syndrome are great people who live rich lives. But along with developmental disabilities they suffer from a great many health problems and have severely shortened life spans. Perhaps the future is such therapies will be able to initially focus on these secondary effects.
I don't think methods of preventing chromosomal anomalies are eugenics, since such anomalies are already not inheritable.
advisedwang
It's not eugenics, because Down syndrome is not inherited. There is no Down's genes to eliminate. Terminating down syndrome babies doesn't reduce the rate of Down syndrom in the next generation, and nobody is doing it for that goal.
Tade0
The main evil of WW2 eugenics was preventing certain people from having children based on arbitrary rules.
Aborting a fetus with trisomia so that the couple can try again for a healthy child is nothing like that.
llmthrow103
Dating apps and services with a beauty/salary standard and long prison sentences for the worst criminals are also a form of eugenics. Many kinds of societal and political changes have a eugenic or dysgenic effect on the population, and I'd prefer to live in a society that has more eugenic policies.
landl0rd
When you consider with which woman to conceive children, consciously or unconsciously, you are engaging in eugenics. It’s fine. Forced sterilizations aren’t but we’re not talking about those.
There isn’t a set of magic words people use (eugenics, isms/phobias) where the person accused of said word must prove that’s not the case before he can continue. “It’s eugenics” isn’t a reason to shut someone down.
lurk2
You’re talking about a human person and making the case that the world would be better off if they had never been born.
toomuchtodo
Yes, that is a legitimate argument to make in a cruel, uncaring (most of the time) world. Lots of regretful parents out there who would take it back if they could. All life is temporary. Quality of life for all involved is a material consideration.
dauertewigkeit
Why is that bad? When the topic is abortion, not being born is considered a good thing for the child, whose life prospects aren't so good on account of the economic conditions of his mother.
orbisvicis
I do wonder if the elimination of all genotypes with Down's Syndrome would also result in a significant reduction in beneficial or benign genes.
I've had smart pets. I've never had children. I sometimes envision smart pets as like an X-year old child with Y-year old trait, almost as a person with a disability. If a child can't achieve independence and a life of their own, why let all parties suffer through that ordeal?
geysersam
I'm a bit torn on this. We're all dependent on other people one way or another. Individuals with Downs are more dependent, but it's a spectrum and they can still have meaningful lives. Meanwhile healty "independent" individuals can live entirely tragic and arguably pointless lives devoid of love and filled with anger.
That said, I'm still pro screening for Downs in fetuses. What I'm trying to say is that I'd do the screening for me as the parent. Not for the person to be born.
vtbassmatt
Why do you think people with Down syndrome can’t “achieve independence and a life of their own”? And what makes you think they, or their families, see their existence as suffering?
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deadbabe
Why didn’t she get screened? She didn’t have to carry to term, she did it to herself.
erifneerg
According to a NYT article from 2022, there's a high false positive.
Title: When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong Authors: Sarah Kliff & Aatish Bhatia
https://web.archive.org/web/20250712195745/https://www.nytim...
eleveriven
On one hand, parents are making personal choices based on the information available to them... on the other, when nearly an entire population starts selecting against a certain condition, it starts to feel less like individual choice and more like a societal value judgment.
juujian
This is interesting news, for the lack of a better word. I've met more than one person with downs syndrome. They have definitely enriched my life and shown me a different way of looking at the world.
nkrisc
I think there’s a difference between appreciating those among us who have it for their perspective and differences and wishing it upon your child.
I admit I was absolutely relieved when pre-natal screening was negative for it, both times.
But if that was the hand we were dealt, then I’d take it. But that doesn’t mean I want it.
xupybd
My friends baby tested positive for down syndrome in one of the early screenings. They suggested termination. When my friend asked what the chances were they said on that test they had a 1 in 100 chance of down syndrome.
That baby did not have down syndrome and is now a happy seven year old.
walthamstow
We were given 1 in 21 from the nuchal transparency on the 12 week scan, then we did CVS testing to find out for sure.
Terminating on 1/100 without any further testing seems crazy to me. Of course, our scans and screening were all 'free' on the NHS, so there was no cost to getting extra data.
namenotrequired
Wait, am I reading this wrong or did they suggest abortion to avoid a mere 1% risk of Down syndrome?
SecondHandTofu
What is your point, that variance exists? I'm not sure I'd play Russian roulette even with a 100 chamber cylinder. 99 people might come away with an anecdote though.
tmsh
I agree on the surface. But where do we draw the line of choosing what we think (in our very limited human understanding of future events) is better for a child? Soon it’s GATTACA. As an extreme counter example consider if you could choose the race of a child. Or their melatonin levels. You might think one is “easier” for the child or even “better” for a happy life or something, but then at what point do you have that “right”?
I’m very pro-science but I also feel for the people with downs who are like - what? They’re going to end everyone like me in the future?
afavour
Honestly it’s confounding to even think about it. Aborting a fetus with Down’s syndrome? Feels cruel to deprive someone of life for that. But if it meant you went on to have another child you otherwise wouldn’t have then you’re giving life.
I think at a certain point you can’t consider this stuff rationally.
devonbleak
I have a cousin with DS. You have to be committed and have the means to raise a child with extreme needs. Many of them will live with their parents their entire lives and will not develop cognitively beyond their tweens (hence the Britney Spears anecdote above). The ones that do move out tend to have to go to a place that specializes in assisting them. They can also have pretty extreme health issues.
Yes, they can be beautiful people that bring light to others around them, but those others also don't typically get exposed to the behind the scenes struggles of the entire family to cope with this.
Some people are prepared to do this; I don't judge the ones that decide they're not. I would hate for someone to go into it not understanding what they're signing up for.
nine_k
At 2 months, there's still no "someone" to speak of. It's an inch long, with some foundational structures of the nervous system beginning to form.
move-on-by
My partner and I tested for it. We had a discussion and agreed a positive down’s result would not affect our decision to have the baby, but we were testing for other things anyway and it seemed like having the information earlier rather then later would help up prepare.
nkrisc
At some point you have to choose an arbitrary line in the sand, or otherwise the universe is a single being.
All lines are arbitrary.
mixdup
How does the reasoning behind the choice to end a pregnancy matter? If abortion is acceptable at a given point in pregnancy, the reason behind making the choice shouldn't be "cruel". How would it be any less cruel if it was a healthy pregnancy but the woman was not ready to raise a child?
For the record, I'm pro-choice. It's just kind of weird that people are OK with abortion but only in weird certain circumstances. I get timing--if a fetus is viable, why someone would think that's too late to make that choice. But not the motivation behind it
whatshisface
What's better for them should be the overriding concern and that's to have a normal development.
RajT88
I am not advocating any course in particular.
But I will observe that when such treatments become available, such conditions become a marker of lower socioeconomic class and the people with the conditions get treated less well by society.
This is why we need a better healthcare system.
loeg
It's hard to imagine a treatment cost so high that it wouldn't be worth the USG paying for it. Down syndrome kids and adults have some quantifiable economic cost; normal adults are worth some other quantifiable economic benefit; the difference is going to be significantly more than the cost of treatment.
barbazoo
What is “normal development”? And doesn’t that describe the process, not the outcome? If the outcome is happiness, who knows who has it better?!
mathgeek
While "what is normal" is a reasonable question, a normal development is certainly closer to something that allows folks to achieve most things in any career/hobby/pursuit they choose.
UltraSane
Normal development starts with having the normal number of chromosomes. I would think this is elementary biology.
jojobas
Such that doesn't see you infertile and dead by 30.
wyldfire
I don't know if it's the case for folks with Down Syndrome (I suppose it's likely not), but hearing-impaired folks have their own culture to the point that in the past it was seen as some as a betrayal to the community to seek out cochlear implants. I think having their own language does a lot to create unity among them.
All that above is to say that I wonder if some folks in Down Syndrome might actually prefer their status quo abnormal development?
scheeseman486
Down syndrome has significant developmental effects beyond mental impairment, lifespans are considerably shorter and while that's improving that doesn't take into account quality of life, medical complications are almost inevitable.
loeg
People are giving you shit because Down Syndrome sucks, but being deaf sucks too, and withholding hearing from kids of deaf adults is and was child abuse.
JumpCrisscross
> cochlear implants
Cochlear implants are reversible. A genetic disease is not.
UltraSane
There is absolutely no benefit to Down Syndrome.
hankman86
Most do not have the cognitive abilities for these kinds of philosophical debates.
wonderwonder
I used to live near a down syndrome living facility. Essentially a house converted into a care facility in a neighborhood. ~8 - 10 people with downs lived there. Very few visitors (parents), almost all the cars belonged to the nurses. Isolated from everyone they lived around and kept away from the neighbors (I'm sure to the neighbors relief). required constant care. I don't think its a life most would choose.
gerdesj
As soon as someone starts ascribing towards a "normal" and using the pronoun "them", warning bells should go berserk.
hankman86
No. Down Syndrome leads to an objectively worse outcome for the affected individuals. And their parents, I might add.
We should not let compassion for these people obstruct some basic facts. My only consideration would be the potential risks and side effects that are to be expected for any medical intervention. But if we were expecting a child that was diagnosed with Down Syndrome, I would not hesitate for a second to give this child the chance for a normal life. And us parents the chance for normal parenthood.
tumnus
The word "them" has been used for centuries in cases where the writer may want to refer to a subject, or subjects, of no specific gender. I wonder why it's suddenly bothering you.
lurking_swe
genetics doesn’t care about your feelings. If a human has the genetic issue (issue with cell division on a specific chromosome…i forget which one), they’ll typically have severe developmental challenges in childhood. And if unlucky, end up nonverbal.
I’m pretty sure most scientists would consider being able to communicate effectively with your own species, “normal”. Regardless of what animal you are. Just like it’s normal to have 5 fingers as a human. But some humans have more or less. That’s just…life.
No need to be unnecessarily sensationalist. I do agree that using the term “normal” should give someone pause. But warning bells? Depends on context…like everything in life. :)
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balamatom
Any time someone uses the word "normal", I reach for my wallet, to check if it's still there
123yawaworht456
The heresy of heresies was common sense.
TechDebtDevin
[flagged]
eleveriven
It can shift your whole perspective if you're open to it
UltraSane
The mildest forms of Down Syndrome allow people to function in society but the worst forms are really bad. I knew a guy whose brother had a really bad from and was completely nonverbal.
cogman10
You can have down syndrome and autism at the same time. Down syndrome also puts a person at a higher risk of early onset dementia.
honkycat
Even if it allows them to function in society, they have significantly higher poverty rates.
It is a hard life for everyone involved.
twixfel
Letting someone have Down’s when it’s avoidable just for the entertainment value is hardly moral.
BrawnyBadger53
I don't think they were suggesting this
svara
Down syndrome presents in different ways.
I wanted to respond to multiple comments with the touching speech of Frank Stephen (a man affected by Down syndrome) before the US Congress in 2017, so I'm posting it to the top level instead.
It's a complex issue but I think listening to Stephen will add a valuable perspective.
https://m.youtube.com/watch?v=vtS91Jd5mac&pp=0gcJCfwAo7VqN5t...
issafram
I read the abstract but I'm still a bit confused. Will this help people who have down syndrome? Or is it a way to help future pregnancies?
arjie
The realistic reading is that: In the future, a treatment based on this technique could help parents going through IVF rescue more embryos from trisomy-21.
Considering that scope, the people for whom this could be useful are those who have very few embryos, one or more of which have trisomy-21. With a young couple, they will have many embryos and preimplantation genetic testing will reveal trisomy-21 early enough that even if they have fertility issues they can just run more rounds of IVF.
With an older couple or one with severe fertility issues, they may only have one or two embryos to work with.
This is all science-fiction, though, since a technique like this will require a lot of work (both in development and in regulation) before it can go live.
politician
This comment and the original question ought to be pinned to the top of this discussion.
drknownuffin
Future pregnancies.
OldfieldFund
not pregnancies in the traditional sense but IVF, as far as I understand. Many of my friends who are wealthy are doing only IVF to screen for negative genotypes
daemonk
The haplotype phasing strategy is the key method here. The phasing method is described in a previous paper: https://www.nature.com/articles/s10038-022-01049-6
rbanffy
I’d love to get a Star Trek future, but I’d rather skip the Eugenics War.
eleveriven
Using subtle sequence variants to distinguish and eliminate only the supernumerary chromosome, without harming the normal ones... I think that precision is a technical marvel
Huxley1
This research gives me a bit of hope. Although it’s still early and far from clinical use, it’s encouraging to see new treatment ideas emerging. I really hope we see more progress like this in the future that can truly help patients and their families.
vicnov
I think it is worth a separate research that modern definition of progressive thought considers eliminating/treating a genetic malfunction "unethical".
nicman23
US progressive thought
jedimastert
It's not very long ago that race was considered a "genetic malfunction".
People are still looking for a genetic link to autism.
vicnov
It is an important point. Our understanding of what is “disease”/“malfunction” and how to address diseases has been changing.
I can see how if we, as society, - gain such immense wealth that taking care of/ providing support to/ humans with DS becomes so easy - arrive to the conclusion that there is no downside in emotional health/wellbeing - change definition of what “living full/happy life” Then parents stop perceiving DS as a concern
lurk2
This is not an attitude exclusive to progressives. The chief grievance here is that the historical “solution” to the “problem” of Down Syndrome has been abortion. Opposition comes from the pro-life movement (which is generally conservative) and disability advocacy groups (which are generally liberal).
A novel therapy that does not result in the termination of the pregnancy might satisfy the conservatives, but it does nothing to satisfy the disability advocates, who point out that these kinds of technologies fundamentally normalize the idea that they should never have been born the way that they are.
vicnov
“Fundamentally normalize” is the part that surprises me. I sometimes think that it is the refusal to hold two thoughts simultaneously that drives it.
One can value/respect people with DS and strive to eliminate DS at the same time.
Tade0
Hailing from a particularly conservative country I can tell you right now that it's not going to satisfy the conservatives, as their core belief is that the world is zero-sum and tampering with that, in their view, wrong.
throwaway342334
As a conservative, my position on genetic intervention is about ethics, human digniity, and the sanctity of life and not some kind of blanket opposition to treating genetic disorders.
I have no moral problem with a therapeutic intervention that improves a life by treating a debilitating disorder with no cost of life.
I will have moral problems when those ideals are inevitably twisted and loosened over time to not just treat disorders, but pick attributes like intelligence, strength, skin color, attractiveness, etc.
moomoo11
I don't really understand what it says. As a layman in this topic, I'm curious if modifications like that can cause other effects?
derektank
It says that they've developed a way to identify the extra chromosome(s) passed to a child by a malfunctioning germ cell, specifically chromosome 21 though presumably this method could be reproduced for other trisomy diseases. This could, most immediately, lead to a therapy that allows a couple that is going through in vitro fertilization to repair a zygote that has trisomy by correcting the number of chromosomes it has, and preventing the resulting child from having Down's syndrome. This is relevant especially for older mothers, who are most likely to produce malfunctioning eggs that result in Down's syndrome
kbelder
At that point, wouldn't they just use a different egg? I'd expect that to be far less costly and less risky than this treatment.
notimetorelax
Older women may not produce that many eggs, if any at all. And each harvest costs multiple thousands, so it’s not all that clear cut.
magicalhippo
Harvesting eggs can be a huge strain both physically, emotionally and financially. And if you're older, and thus have elevated risk, you might get just a one or a few eggs per harvest.
Now factor in that the success rate of eggs turning into viable embryos that can be transferred back into the mother can be low. Even if you harvest say 10 eggs, a good catch, you may very well end up with just 1-2 viable embryos from those 10 eggs. And that's before considering trisomy as discussed here.
The final kicker is that harvesting takes time. You might well only be able to harvest a few times per year. And success rate drops quickly once you're past 38 or so.
derektank
To expand on what notimetorelax said, egg harvesting is a low risk but not a zero risk procedure which involves preparatory hormone injections, twilight sedation, and ultimately sticking a pretty fat needle into the ovaries. There's roughly a 1 in 1000 chance of serious complications for any woman that goes through it. If you're over 40 and your last round of harvesting only produced a handful of eggs cells and all of them with some kind of defect, repairing a damaged egg or zygote would be much less risky for the mother. What exactly the cost of a treatment based upon this discovery would be, I have no idea, but both processes are resource intensive.
thaumasiotes
> specifically chromosome 21 though presumably this method could be reproduced for other trisomy diseases.
There's no point; other trisomies won't go to term. (Sex chromosomes are an exception, but also don't make the child nonviable.)
null
shadowgovt
Hard to say with 100% certainty without a human trial, but the short answer is "probably not." This is a situation where a person has three copies of chromosome 21 in every cell. Shutting one copy down would, hypothetically, leave someone with two working copies. I don't think we have any reason to believe that trisomy is masking some other phenomenon that we won't see until a fetus with this treatment applied fully develops into a newborn.
(And that's of course assuming human trials were authorized. Probably not for this treatment in my lifetime, at least not in the US).
Interesting, I wonder what else this might lead too! Encouraging we might be getting somewhere.
I used to live near a Down syndrome center where a bunch of folks lived and I remember this one lady who was kitted out with Britney Spears everything, lunchbox, t-shirt, hat, and headphones. Everyday I passed by the bus stop she would be dancing her heart out to a Britney track waiting for the bus and it made my world a little brighter.