CRISPR takes important step toward silencing Down syndrome’s extra chromosome
medicalxpress.com
medicalxpress.com
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.
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).
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.
I haven’t read it but I did find this
Here's one link:
https://www.sciencedirect.com/science/article/abs/pii/S07380...
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...
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.
I haven't heard of this - where is this published? Here's a primer on eye color:
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
By the time they can make it, it’s too late.
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.
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.
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.
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.
> 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 think you guys are perhaps talking past each other.
The fact you acknowledge and recognise 'less severe' (a significant understatement when comparing ASD to Downs) suggests that you do understand parent's point.
Parent, I also note, was not seeking or implying an apology was sought from people with less severe genetic conditions. Rather, that the implications on QoL, lifespan, social / familial imposition etc of Downs, is nothing at all like so called high-functioning ASD.
I'm not interested in litigating the fairly obvious point that Down's syndrome is a much worse prognosis than ASD, and the comment to which I responded says nothing about it either.
Btw, I also wouldn’t if I could choose.
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.
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.
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.
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".
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.
The number you’re looking for is 9, not 99
Screening tests are designed for sensitivity — false positives are expected and identify who would benefit from additional diagnostic tool and procedures.
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.
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.
That we permit (and widely practice) pregnancy termination makes it an easier call for me, though.
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.
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.”
I'm partially blind, and I know many fully blind people. None of us have being sighted as our one dream.
I only need to wear glasses but I’d do it in a heartbeat.
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.
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.
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.
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
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.
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 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.
Thinking of them as lesser leads to a society that prefers to drag each other down instead of lifting each other up.
That's not to say that it's unreasonable to value intelligence over happiness, but framing it as quality of life seems off.
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.
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.
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.
The motor bus was hailed as a eugenic invention because it helped prevent inbreeding in small villages, for instance.
>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?)