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CRISPR takes important step toward silencing Down syndrome’s extra chromosome

medicalxpress.com

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Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#111

Post by ceejayoz »

irjustin wrote: post #58
Metacelsus wrote: post #55

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.

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.

Now ask Gemini what chromosomal anomaly causes Downs. It will likely be enlightening.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#112

Post by equinox6380 »

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#113

Post by simiones »

robertjpayne wrote: post #104
mkesper wrote: post #89

Earlier quoted context omitted.

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#114

Post by MSFT_Edging »

voidUpdate wrote: post #92
c048 wrote: post #86

Earlier quoted context omitted.

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

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#115

Post by azan_ »

voidUpdate wrote: post #85

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 w…

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#116

Post by ceejayoz »

azan_ wrote: post #115
voidUpdate wrote: post #85

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 w…

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 condit…

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#117

Post by azan_ »

ceejayoz wrote: post #116
azan_ wrote: post #115

Earlier quoted context omitted.

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 condit…

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#118

Post by throwatdem12311 »

voidUpdate wrote: post #85

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 w…

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#119

Post by flextheruler »

MSFT_Edging wrote: post #114
voidUpdate wrote: post #92

Earlier quoted context omitted.

I am the one suffering from multiple of those conditions

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.

Re: CRISPR takes important step toward silencing Down syndrome’s extra chromosome

#120

Post by TurdF3rguson »

hgoel wrote: post #110
TurdF3rguson wrote: post #65

Earlier quoted context omitted.

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 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 si…

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.

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