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.
> 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).
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.
Can you link to a scientific article? I have severe doubts about that claim made on a random youtube video. In fact, I'd go as far as to claim that the content of the words here, are not correct. This is why I think a doi link to a research paper is necessary. I don't doubt that individual cells are, of course, chimeric, but I doubt the "stripey skin" claim. That one makes zero sense.
I just did a google search and this further confirms my suspicion. Thus I would like to ask for a link to a scientific article - until that happens I remain rather unconvinced.
For a more practical example, how does this work for the daughter of a colorblind person (the colorblindness gene is on the X chromosome)? Do they have four types of cones?
Yes, but it's not limited to that case - there's two common variants of the green cone that respond to different wavelengths and people with two X chromosomes can have both, improving colour identification.
> 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.
Humans have 'stripey' skin because of somatic mutations, and it's not clear that there are X-chromsome-located skin color loci. Don't believe everything you see on Youtube.
And how do they ensure that only one X chromosome is inactivated? All three X chromosomes are, for the most part, equal, neglecting differences between father and mother X chromosome and changes during meiosis.
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
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.
This is one of those situations where the child will likely never get the choice, for the same reasons we don’t require informed consent for being born or getting your diaper changed.
Not to downplay, but is it wrong to assume you're self sufficient in daily life? Work a job and pay your bills?
You list your site and have a seemingly lots of professional experience.
Some of these conditions do make life harder, but there's a big difference between high functioning Autism and disabilities that make someone 100% dependent on others.
It's so odd to me that we haven't come up with a term for high functioning autism to separate from low functioning. It's ridiculous to me that a commenter with this background can superficially claim to be suffering from the same disability as a family member I have who has required a caretaker to not die and would probably be totally uninterested or unable to even give an opinion on a complex subject like this.
I cannot recall why Asperger's as a term was dropped or deemed controversial, but this is the equivalent of stolen valor but for mental illness especially when used to justify an argument.
How is it any different than people with obsessive compulsive tendencies claiming they have OCD? There's a huge difference.
Dr. Asperger may or may not have been sorting autistic children into high- and low-functioning groups so that the higher group (with “Asperger’s”) could go on to become good Nazis and the lower group could be euthanized.
Perhaps including milder forms of autism under the term was a useful way to reduce funding for the intensive care and therapy required by those with more severe forms (e.g. the nonverbal), since we can now frame these things as “changing who they are” etc. and not, in fact, necessary.
Many children who primarily have intellectual disabilities will be categorized under the "Autism Spectrum" because funding has been applied for "Autism", and not "vague learning disability". If the doctor checks the Autism box, it opens a huge swath of support networks in certain states.
I don't blame anyone for lumping their kid in. I think it's more of a massive failure for social funding that hyper-categorizes due to means-testing.
> "It's so odd to me that we haven't come up with a term for high functioning autism to separate from low functioning."
If you are interested to learn, autistic people are typically assigned a level of support needs on a scale of 1 to 3. Most people who would once have received a diagnosis of Aspergers now receive the "level 1" designation. Based on your description, your family member is likely "level 3", possibly with comorbidities? I was assigned "level 2".
> "I cannot recall why Asperger's as a term was dropped or deemed controversial"
It was dropped because a number of labels, now all considered to be ASD, were discovered to be different presentations of the same underlying disorder. The divisions break down under scrutiny and the apparent modal jumps disappear when you control for comorbidities and the ability to mask.
> "How is it any different than people with obsessive compulsive tendencies claiming they have OCD? There's a huge difference."
I'm not the other poster, but I'm a different autistic adult to whom your complaints might apply. To answer this question, the difference is that I call myself an autist because I have been diagnosed as autistic, due to meeting the diagnostic criteria of autism.
> "this is the equivalent of stolen valor"
Please go to the equivalent of hell.
Disabled people are allowed to call ourselves by the correct labels without apologising that our suffering is less severe or less obvious than someone else sharing the same label.
I've always thought we should maintain a list of people like you. Every time we cure something, like blindness in one person, one of you gets picked and your eyes get poked out. That way the total amount of suffering will be conserved, but those who think that's necessary get to be the ones who pay the price for their beliefs.
In the first half of my comment, I explained that I don't think people should suffer. I'm just also aware that if everyone can pick their child's attributes, it could lead to a nation of blond-hair, blue-eyes kids
No it wouldn't. If these traits were everywhere, then they would no longer be exclusive and therefore would lose their appeal. There is nothing inherently "hot" or "attractive" about blond hair or blue eyes.
We already live in a world where parents decide whether or not a child with Down Syndrome will be born.
60-90% of prenatal diagnoses in the US result in an elective termination. The number is nearly 100% in Iceland and some other Nordic countries. Unlike autism or ADHD, we have a very clear understanding of exactly what causes Down Syndrome and now potentially how to correct it. A treatment like this is no different from correcting a congenital heart defect - it gives a baby a chance at normal, healthy development.
> it gives a baby a chance at normal, healthy development.
And a chance of not being killed in utero. Abortion for Down is sad, because despite cognitive impairment and health complications, their lifespans are long, and emotional development is quite spared by the syndrome. They can be very affectionate and sociable, despite the impairment. Abortion for them feels like death penalty for being dumb.
I don't think that this is about being "dumb", but rather about being able to support oneself.
Becoming a parent and taking on the responsibility to support a child financially and emotionally for 18 years as you gradually prepare them for independent life is already a massively difficult decision, particularly when looking at the worldwide decline in birth rates. Expecting people to knowingly and ahead of time take on responsibility for a child who most likely will never be able to support themselves and a raise their own family seems really unreasonable to me.
Ok, that just leaves us with another quandary: deciding whether to terminate the pregnancy (hoping that the parents will get a "normal" child on the next try), or let the child be born and use this (no doubt very expensive) therapy to cure it? Not sure medical insurers would cover it? Maybe Christian anti-abortion groups will donate money for this therapy to parents who choose to have a child with Down syndrome? OTOH, they might consider that interfering with God's will to have an impaired child be born?
You got to weigh this against abortions for unborn children diagnosed (maybe even wrongly, the tests are really not that exact) with Down's syndrome. The slippery slope already began a long time ago probably.
By week 20 there is practically no chance you're not going to know if you're carrying a baby with downs or not unless you refuse all the modern screening/tests available.
NIPT tests can be done at week 8 and give a very high indicator that can be followed up with close monitoring/invasive tests at week 14-15 that give a 99% accuracy. That's hardly "are really not that exact".
Per Wikipedia, Down's syndrome currently occurs in ~1 in 1000 live births, and used to occur in 2 in 1000 live births some decades ago, in the USA. That means that a test with a 1% false positive rate (99% accuracy) will lead to a false positive for 98-99 healthy embryos per 1000 live births. I would say that this is fair to call "not all that accurate".
Note: I am not in anyway saying that this means that people shouldn't trust the tests, or anything like that. Just reminding everyone that a test's accuracy has to be compared to the incidence of the disease to decide if it's high or not.
Screening ‘test’ vs diagnostic ‘test’ is an important concept.
Screening tests are designed for sensitivity — false positives are expected and identify who would benefit from additional diagnostic tool and procedures.
I understand the concerns, but some things just make life much harder. I would definitely want to spare my child from living with autism, ADHD and certainly Down syndrome, given the choice. It's not like we're talking about choosing eye color, height or gender here.
Not to downplay your situation, but this is Down's syndrome we're talking about, so a whole menagerie of both physical and mental conditions, including, but not limited to: higher risk of epilepsy and heart failure, aside from almost universal infertility in men.
It's a serious disability even today decreasing life expectancy by 10-15 years.
One may have different opinions regarding the quality of life of these people while they're alive, but I think we can agree that 60 years is a short lifespan for a human.
EDIT: also main point of eugenics, which seems to be not widely understood, was that the state would decide both what kind of children are born and who gets to have them. It was not unheard of to take sufficiently "aryan"-looking newborns from their "inferior race" parents and give them to "master race" adoptive parents.
This lack of agency on part of biological parents is a core tenet of eugenics.
Of course gene editing has the potential to go very wrong, and will almost certainly go very wrong. But trisomy 31 is a well defined genetic defect with heavy consequences on the person having it and his or her entourage and there is no ethics preventing to correct the issue even if the technology used can be also used for nefarious means. It would be like not using dynamite for freeing miners in a collapsing mine because in the future there will be bombs made from dynamite targeting children.
What would be the difference between curing a fetus versus a newborn? Isn't editing out the bad gene better than just aborting gestation? For the person gestating too, since going through an abortion is psychologically damaging
I'm sorry but if elimination of crippling disease sounds like eugenics to you, then you should deeply think about your moral compass. Comparing autism (I guess some mild form since you put it next to ADHD) and ADHD to Down's syndrome shows that you are completely clueless. I'm sorry for the harsh tone but your comment is absolutely awful and has zero empathy towards people (and their caretakers) suffering from condition much worse than what you are going through.
For where this gets complex, you can look at the Deaf community.
Crippling disease? Or normal variation in humanity? There's significant debate, and a lot of Deaf people really bristle at the idea of eliminating their identity.
Natural Selection might as well be called Natural Eugenics.
I have people in my family with Downs. It made the early pregnancies for every one of my children a terrifying ordeal. Luckily my children were all born perfectly healthy.
I love my family members with it, but their lives have been so much more difficult than they needed to be. It’s not just massively difficult for the disabled, it financially ruined their parents and their care is also a massive tax burden on the community.
If we can eliminate a crippling disease by “just” turning off a gene we should absolutely do it. The alternative is aborting them as soon as it is detected, and even then it isn’t always caught in-utero.
I have worked with people will all sorts of disabilities my entire life. I can confidently say that if I asked any of my blind or deaf colleagues that if they could take a simple gene therapy so they could see/hear again that they would do it without hesitation. Why would Down Syndrome be any different?
I can’t think of a single valid argument against it other than “eugenics bad”. We aren’t talking about Nazi-era human experimentation here.
As I said in another comment, eugenics is state authoritarian control of reproduction and fertility (with the extreme version being genocide).
There are very few people with a disability who wouldn’t want it to have been prevented or cured. “A healthy man has many dreams. A sick man has only one.”
Ignore commenters trashing you. It is very ok to have conflicted feelings about something like this. I think this is a good thing but understand where you're coming from. Let me tell you my family's story.
I have a brother with developmental disabilities. Not Down Syndrome, but something similar. He (and I) were lucky enough to be born into an upper-middle class family where my brother went to a school where people were kind to him and where services were available. Despite everything going about as well as it could, it still is a major tax on my family. Constant fund-raising for the home he's living in. Major medical problems through out his life. Things like that. When I agreed to kids with my wife it was on the condition that we do genetic testing and abort the fetus if there was an issue.
My mother has invested her life into this child and loves him more than anything. One day we were talking about death and I casually said something along the lines of "as long as I don't see you at <brother's name> funeral" I'll be ok. Implying she should die first so she doesn't have to deal with the sadness of seeing him die. She then said that she wanted my brother to die first. I was stunned. I asked why. She said she wanted to know he was taken care of. It completely floored me. People with Down's (and similar disabilities) can bring so much joy into this world. They can live very happy lives. I understand how it can be hard for people who don't have my experience to feel like you're feeling. However, I wouldn't wish it on anyone. And I think it's a good thing for society to stop babies being born that are so disabled they'll never be able to take care of themselves.
> 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.
We can discuss pros and cons of freedom of choice of genetics for your children (an opposite spin on the same idea as calling it "designer babies"), but eugenics is a thought-terminating cliche at this point. There's whole space of useful genetics-based treatments and interventions that do not imply involuntary sterilization of people one group deems lesser.
The best thing to do with the term eugenics is to define it specifically as authoritarian control of reproduction.
Voluntary acts aren’t eugenics, otherwise you get absurd things like free choice of mates being eugenics because you are choosing, or any medical treatment being eugenics if it touches genetics or reproduction. Eugenics should be defined as meaning only authoritarian (directly or via state backed “social engineering”) forms.
While I agree with you that it's a thought-terminating cliche, I would caution that humans have historically been very inaccurate with knowing what traits specifically are good vs. bad, while also very strong on enforcement of ingroup/outgroup and purity dynamics.
We could all be hyper-muscular (from that Myostatin gene) and have tetra-chromatic vision*, but that leads to the joke about how "in the future there will be three genders: kpop, furry, and tank", where kpop represents normative beauty standards, furry represents self-expression, and tank represents hyper-optimising for niche goals like being strong.
On the more near-term impacts, before we're ready for me to get turned into an anthro-wolf, if we all end up with our genomes subject to regular updates like our software currently is, some of us are inevitably going to face our cells getting bricked while we're still made of them.
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.
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.
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.
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
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.
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.
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.
Cloning isn't even sci-fi or imaginary, just morally questionable and... variably legal (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.
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.
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).
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.
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.
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.
I know that I'm in the small minority of people that read Flowers for Algernon and didn't think the ending was a sad one. His life was interrupted with some brief magic and resolved into what it was always meant to be.
People have gotten emotional with me about my take on that, and that's just fiction. I guess my point is I don't think there is a clear morality play here. This is more like a trolley problem where you have to decide for yourself how much control you're comfortable with.
This is incorrect in that the term was not neutral before WW2 nor was Nazi Germany Eugenics really unique. Taking these claims one at a time:
>the term was value neutral.
By the late 1930s the academic community had largely moved on from eugenics, the catholic church denounced it 1930 with their Casti Connubii, the Eugenics Office Records closing in 1935 and finally Laughlin retiring in 1939. (The leading Eugenicist)In 1930s being a Eugenics was viewed much like homeopathy is viewed today.
>Until a certain Austrian painter decided to practice eugenics in a uniquely negative way,
Eugenics in the united states saw the rise of the "Moron Laws" and mass sterilization of marginalized communities in the US. In fact, Nazi Germany's Eugenics policies were largely inspired by US Eugenic legislation and actively promoted by US Eugenicist. (Particularly California) Heck mass sterilization programs in the US didn't even die with WW2 continuing into mid 1970s.
I'm troubled by this thread because the vibe I'm getting is Eugenics was only bad because the science wasn't there yet and the Nazi's did it, this time will be different. No, the aspect which made eugenics dangerous were inherently political and every bit as relevant today than they were a hundred years ago. (Who decides which traits should be "edited" out? What traits should be "edited" in? What policies should be legislated? Who is primarily impacted by these policies? How much agency do the people impacted by these policy have in the situation?)
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
> 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).
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
Can you link to a scientific article? I have severe doubts about that claim made on a random youtube video. In fact, I'd go as far as to claim that the content of the words here, are not correct. This is why I think a doi link to a research paper is necessary. I don't doubt that individual cells are, of course, chimeric, but I doubt the "stripey skin" claim. That one makes zero sense.
I just did a google search and this further confirms my suspicion. Thus I would like to ask for a link to a scientific article - until that happens I remain rather unconvinced.
https://link.springer.com/article/10.1007/BF00273442
I haven’t read it but I did find this
I agree about the need for verification, but Veritasium videos are usually well-researched and more accurate than "random" videos.
Here's one link:
https://www.sciencedirect.com/science/article/abs/pii/S07380...
That video seems to imply you can't see it under any light and the image there is pure visualization.
AFAIR this comes up visually when infected with certain diseases.
For a more practical example, how does this work for the daughter of a colorblind person (the colorblindness gene is on the X chromosome)? Do they have four types of cones?
Yes, but it's not limited to that case - there's two common variants of the green cone that respond to different wavelengths and people with two X chromosomes can have both, improving colour identification.
How does it feel to actually answer a question as a geneticist?...
> How does it feel to actually answer a question as a geneticist?...
Genetics is complicated.
If you really want to learn about this, all you need to do is search.
https://www.bbc.com/future/article/20140905-the-women-with-s...
> 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.
Humans have 'stripey' skin because of somatic mutations, and it's not clear that there are X-chromsome-located skin color loci. Don't believe everything you see on Youtube.
Likewise humans with heterochromatic eyes are generally women.
And how do they ensure that only one X chromosome is inactivated? All three X chromosomes are, for the most part, equal, neglecting differences between father and mother X chromosome and changes during meiosis.
Presumably by targeting them toward these differences.
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
The full diversity of life sounds wonderful, as long as you're not the one suffering painful, disfiguring or crippling conditions.
I am the one suffering from multiple of those conditions
I'm sorry to hear that. So would you like others to suffer from them as well if given the choice?
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
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.
This is one of those situations where the child will likely never get the choice, for the same reasons we don’t require informed consent for being born or getting your diaper changed.
By the time they can make it, it’s too late.
Not to downplay, but is it wrong to assume you're self sufficient in daily life? Work a job and pay your bills?
You list your site and have a seemingly lots of professional experience.
Some of these conditions do make life harder, but there's a big difference between high functioning Autism and disabilities that make someone 100% dependent on others.
It's so odd to me that we haven't come up with a term for high functioning autism to separate from low functioning. It's ridiculous to me that a commenter with this background can superficially claim to be suffering from the same disability as a family member I have who has required a caretaker to not die and would probably be totally uninterested or unable to even give an opinion on a complex subject like this.
I cannot recall why Asperger's as a term was dropped or deemed controversial, but this is the equivalent of stolen valor but for mental illness especially when used to justify an argument.
How is it any different than people with obsessive compulsive tendencies claiming they have OCD? There's a huge difference.
Dr. Asperger may or may not have been sorting autistic children into high- and low-functioning groups so that the higher group (with “Asperger’s”) could go on to become good Nazis and the lower group could be euthanized.
https://en.wikipedia.org/wiki/Hans_Asperger
Perhaps including milder forms of autism under the term was a useful way to reduce funding for the intensive care and therapy required by those with more severe forms (e.g. the nonverbal), since we can now frame these things as “changing who they are” etc. and not, in fact, necessary.
Many children who primarily have intellectual disabilities will be categorized under the "Autism Spectrum" because funding has been applied for "Autism", and not "vague learning disability". If the doctor checks the Autism box, it opens a huge swath of support networks in certain states.
I don't blame anyone for lumping their kid in. I think it's more of a massive failure for social funding that hyper-categorizes due to means-testing.
> "It's so odd to me that we haven't come up with a term for high functioning autism to separate from low functioning."
If you are interested to learn, autistic people are typically assigned a level of support needs on a scale of 1 to 3. Most people who would once have received a diagnosis of Aspergers now receive the "level 1" designation. Based on your description, your family member is likely "level 3", possibly with comorbidities? I was assigned "level 2".
> "I cannot recall why Asperger's as a term was dropped or deemed controversial"
It was dropped because a number of labels, now all considered to be ASD, were discovered to be different presentations of the same underlying disorder. The divisions break down under scrutiny and the apparent modal jumps disappear when you control for comorbidities and the ability to mask.
> "How is it any different than people with obsessive compulsive tendencies claiming they have OCD? There's a huge difference."
I'm not the other poster, but I'm a different autistic adult to whom your complaints might apply. To answer this question, the difference is that I call myself an autist because I have been diagnosed as autistic, due to meeting the diagnostic criteria of autism.
> "this is the equivalent of stolen valor"
Please go to the equivalent of hell.
Disabled people are allowed to call ourselves by the correct labels without apologising that our suffering is less severe or less obvious than someone else sharing the same label.
I've always thought we should maintain a list of people like you. Every time we cure something, like blindness in one person, one of you gets picked and your eyes get poked out. That way the total amount of suffering will be conserved, but those who think that's necessary get to be the ones who pay the price for their beliefs.
In the first half of my comment, I explained that I don't think people should suffer. I'm just also aware that if everyone can pick their child's attributes, it could lead to a nation of blond-hair, blue-eyes kids
Would you pick blond hair, blue eyes for your kids? Would black people pick it? Asian?
I wouldn't, but I can imagine a lot of people would
If you wouldn’t, why would a big chunk of the population do it? And if they did it, so what? Why is blonde and blue eyes bad?
Btw, I also wouldn’t if I could choose.
No it wouldn't. If these traits were everywhere, then they would no longer be exclusive and therefore would lose their appeal. There is nothing inherently "hot" or "attractive" about blond hair or blue eyes.
We already live in a world where parents decide whether or not a child with Down Syndrome will be born.
60-90% of prenatal diagnoses in the US result in an elective termination. The number is nearly 100% in Iceland and some other Nordic countries. Unlike autism or ADHD, we have a very clear understanding of exactly what causes Down Syndrome and now potentially how to correct it. A treatment like this is no different from correcting a congenital heart defect - it gives a baby a chance at normal, healthy development.
> it gives a baby a chance at normal, healthy development.
And a chance of not being killed in utero. Abortion for Down is sad, because despite cognitive impairment and health complications, their lifespans are long, and emotional development is quite spared by the syndrome. They can be very affectionate and sociable, despite the impairment. Abortion for them feels like death penalty for being dumb.
I don't think that this is about being "dumb", but rather about being able to support oneself.
Becoming a parent and taking on the responsibility to support a child financially and emotionally for 18 years as you gradually prepare them for independent life is already a massively difficult decision, particularly when looking at the worldwide decline in birth rates. Expecting people to knowingly and ahead of time take on responsibility for a child who most likely will never be able to support themselves and a raise their own family seems really unreasonable to me.
Ok, that just leaves us with another quandary: deciding whether to terminate the pregnancy (hoping that the parents will get a "normal" child on the next try), or let the child be born and use this (no doubt very expensive) therapy to cure it? Not sure medical insurers would cover it? Maybe Christian anti-abortion groups will donate money for this therapy to parents who choose to have a child with Down syndrome? OTOH, they might consider that interfering with God's will to have an impaired child be born?
You got to weigh this against abortions for unborn children diagnosed (maybe even wrongly, the tests are really not that exact) with Down's syndrome. The slippery slope already began a long time ago probably.
By week 20 there is practically no chance you're not going to know if you're carrying a baby with downs or not unless you refuse all the modern screening/tests available.
NIPT tests can be done at week 8 and give a very high indicator that can be followed up with close monitoring/invasive tests at week 14-15 that give a 99% accuracy. That's hardly "are really not that exact".
Per Wikipedia, Down's syndrome currently occurs in ~1 in 1000 live births, and used to occur in 2 in 1000 live births some decades ago, in the USA. That means that a test with a 1% false positive rate (99% accuracy) will lead to a false positive for 98-99 healthy embryos per 1000 live births. I would say that this is fair to call "not all that accurate".
Note: I am not in anyway saying that this means that people shouldn't trust the tests, or anything like that. Just reminding everyone that a test's accuracy has to be compared to the incidence of the disease to decide if it's high or not.
> lead to a false positive for 98-99 healthy embryos per 1000 live births.
The number you’re looking for is 9, not 99
Oops... Off by one [order of magnitude]...
Screening ‘test’ vs diagnostic ‘test’ is an important concept.
Screening tests are designed for sensitivity — false positives are expected and identify who would benefit from additional diagnostic tool and procedures.
What are you talking about? WHAT are you talking about?
I understand the concerns, but some things just make life much harder. I would definitely want to spare my child from living with autism, ADHD and certainly Down syndrome, given the choice. It's not like we're talking about choosing eye color, height or gender here.
Not to downplay your situation, but this is Down's syndrome we're talking about, so a whole menagerie of both physical and mental conditions, including, but not limited to: higher risk of epilepsy and heart failure, aside from almost universal infertility in men.
It's a serious disability even today decreasing life expectancy by 10-15 years.
One may have different opinions regarding the quality of life of these people while they're alive, but I think we can agree that 60 years is a short lifespan for a human.
EDIT: also main point of eugenics, which seems to be not widely understood, was that the state would decide both what kind of children are born and who gets to have them. It was not unheard of to take sufficiently "aryan"-looking newborns from their "inferior race" parents and give them to "master race" adoptive parents.
This lack of agency on part of biological parents is a core tenet of eugenics.
Of course gene editing has the potential to go very wrong, and will almost certainly go very wrong. But trisomy 31 is a well defined genetic defect with heavy consequences on the person having it and his or her entourage and there is no ethics preventing to correct the issue even if the technology used can be also used for nefarious means. It would be like not using dynamite for freeing miners in a collapsing mine because in the future there will be bombs made from dynamite targeting children.
What would be the difference between curing a fetus versus a newborn? Isn't editing out the bad gene better than just aborting gestation? For the person gestating too, since going through an abortion is psychologically damaging
I'm sorry but if elimination of crippling disease sounds like eugenics to you, then you should deeply think about your moral compass. Comparing autism (I guess some mild form since you put it next to ADHD) and ADHD to Down's syndrome shows that you are completely clueless. I'm sorry for the harsh tone but your comment is absolutely awful and has zero empathy towards people (and their caretakers) suffering from condition much worse than what you are going through.
For where this gets complex, you can look at the Deaf community.
Crippling disease? Or normal variation in humanity? There's significant debate, and a lot of Deaf people really bristle at the idea of eliminating their identity.
I think autism (mild one) is not a bad area for this discussion either. But Down's syndrome? Absolutely not.
I tend to agree, but like autism, Downs varies in severity.
That we permit (and widely practice) pregnancy termination makes it an easier call for me, though.
Natural Selection might as well be called Natural Eugenics.
I have people in my family with Downs. It made the early pregnancies for every one of my children a terrifying ordeal. Luckily my children were all born perfectly healthy.
I love my family members with it, but their lives have been so much more difficult than they needed to be. It’s not just massively difficult for the disabled, it financially ruined their parents and their care is also a massive tax burden on the community.
If we can eliminate a crippling disease by “just” turning off a gene we should absolutely do it. The alternative is aborting them as soon as it is detected, and even then it isn’t always caught in-utero.
I have worked with people will all sorts of disabilities my entire life. I can confidently say that if I asked any of my blind or deaf colleagues that if they could take a simple gene therapy so they could see/hear again that they would do it without hesitation. Why would Down Syndrome be any different?
I can’t think of a single valid argument against it other than “eugenics bad”. We aren’t talking about Nazi-era human experimentation here.
As I said in another comment, eugenics is state authoritarian control of reproduction and fertility (with the extreme version being genocide).
There are very few people with a disability who wouldn’t want it to have been prevented or cured. “A healthy man has many dreams. A sick man has only one.”
Ignore commenters trashing you. It is very ok to have conflicted feelings about something like this. I think this is a good thing but understand where you're coming from. Let me tell you my family's story.
I have a brother with developmental disabilities. Not Down Syndrome, but something similar. He (and I) were lucky enough to be born into an upper-middle class family where my brother went to a school where people were kind to him and where services were available. Despite everything going about as well as it could, it still is a major tax on my family. Constant fund-raising for the home he's living in. Major medical problems through out his life. Things like that. When I agreed to kids with my wife it was on the condition that we do genetic testing and abort the fetus if there was an issue.
My mother has invested her life into this child and loves him more than anything. One day we were talking about death and I casually said something along the lines of "as long as I don't see you at <brother's name> funeral" I'll be ok. Implying she should die first so she doesn't have to deal with the sadness of seeing him die. She then said that she wanted my brother to die first. I was stunned. I asked why. She said she wanted to know he was taken care of. It completely floored me. People with Down's (and similar disabilities) can bring so much joy into this world. They can live very happy lives. I understand how it can be hard for people who don't have my experience to feel like you're feeling. However, I wouldn't wish it on anyone. And I think it's a good thing for society to stop babies being born that are so disabled they'll never be able to take care of themselves.
Just my two cents.
> 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.
We can discuss pros and cons of freedom of choice of genetics for your children (an opposite spin on the same idea as calling it "designer babies"), but eugenics is a thought-terminating cliche at this point. There's whole space of useful genetics-based treatments and interventions that do not imply involuntary sterilization of people one group deems lesser.
The best thing to do with the term eugenics is to define it specifically as authoritarian control of reproduction.
Voluntary acts aren’t eugenics, otherwise you get absurd things like free choice of mates being eugenics because you are choosing, or any medical treatment being eugenics if it touches genetics or reproduction. Eugenics should be defined as meaning only authoritarian (directly or via state backed “social engineering”) forms.
While I agree with you that it's a thought-terminating cliche, I would caution that humans have historically been very inaccurate with knowing what traits specifically are good vs. bad, while also very strong on enforcement of ingroup/outgroup and purity dynamics.
We could all be hyper-muscular (from that Myostatin gene) and have tetra-chromatic vision*, but that leads to the joke about how "in the future there will be three genders: kpop, furry, and tank", where kpop represents normative beauty standards, furry represents self-expression, and tank represents hyper-optimising for niche goals like being strong.
On the more near-term impacts, before we're ready for me to get turned into an anthro-wolf, if we all end up with our genomes subject to regular updates like our software currently is, some of us are inevitably going to face our cells getting bricked while we're still made of them.
* I don't know how that works so here's the wikipedia page: https://en.wikipedia.org/wiki/Tetrachromacy#Humans
Congratulations, you just won the trophy for most privileged comment on the web!
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.
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.
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.
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
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.
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.
Now ask Gemini what chromosomal anomaly causes Downs. It will likely be enlightening.
But this has the same problem as before - how can you ensure that only one X-chromosome is killed off? Or at the least one?
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.
Cloning isn't even sci-fi or imaginary, just morally questionable and... variably legal (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.
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
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).
There are arguments about various "conditions" being diseases or not, Down Syndrome really isn't one of them.
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.
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.
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.
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.
I know that I'm in the small minority of people that read Flowers for Algernon and didn't think the ending was a sad one. His life was interrupted with some brief magic and resolved into what it was always meant to be.
People have gotten emotional with me about my take on that, and that's just fiction. I guess my point is I don't think there is a clear morality play here. This is more like a trolley problem where you have to decide for yourself how much control you're comfortable with.
That’s still eugenics, though. Except this time it’s not pseudoscience.
Until a certain Austrian painter decided to practice eugenics in a uniquely negative way, the term was value neutral.
The motor bus was hailed as a eugenic invention because it helped prevent inbreeding in small villages, for instance.
This is incorrect in that the term was not neutral before WW2 nor was Nazi Germany Eugenics really unique. Taking these claims one at a time:
>the term was value neutral.
By the late 1930s the academic community had largely moved on from eugenics, the catholic church denounced it 1930 with their Casti Connubii, the Eugenics Office Records closing in 1935 and finally Laughlin retiring in 1939. (The leading Eugenicist)In 1930s being a Eugenics was viewed much like homeopathy is viewed today.
https://en.wikipedia.org/wiki/Casti_connubii - https://en.wikipedia.org/wiki/Eugenics_in_the_United_States
>Until a certain Austrian painter decided to practice eugenics in a uniquely negative way,
Eugenics in the united states saw the rise of the "Moron Laws" and mass sterilization of marginalized communities in the US. In fact, Nazi Germany's Eugenics policies were largely inspired by US Eugenic legislation and actively promoted by US Eugenicist. (Particularly California) Heck mass sterilization programs in the US didn't even die with WW2 continuing into mid 1970s.
https://en.wikipedia.org/wiki/Nazi_eugenics - https://alexwellerstein.com/publications/wellerstein_stateso...
I'm troubled by this thread because the vibe I'm getting is Eugenics was only bad because the science wasn't there yet and the Nazi's did it, this time will be different. No, the aspect which made eugenics dangerous were inherently political and every bit as relevant today than they were a hundred years ago. (Who decides which traits should be "edited" out? What traits should be "edited" in? What policies should be legislated? Who is primarily impacted by these policies? How much agency do the people impacted by these policy have in the situation?)