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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

#71

Post by YurgenJurgensen »

lynx97 wrote: post #19
JimmyBuckets wrote: post #2

[flagged]

A similar statistic applies to many disabilities. If you give people a few years of time, after they acquired a disability, studies show their happiness isn't substantially different from a person without a disability. Grief comes from lack of accessibility and society failing to support us. But not from the actual situation. I have to explain this every other week, to a non-disabled person that tries to tell me how…

If the problem is lack of support from society, you can always go and live off the grid. No artificial barriers there.

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

#72

Post by bonzini »

dreamcompiler wrote: post #64
sheept wrote: post #61

Earlier quoted context omitted.

> 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

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?

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

#73

Post by markburns »

shevy-java wrote: post #68
dreamcompiler wrote: post #64

Earlier quoted context omitted.

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 t…

https://link.springer.com/article/10.1007/BF00273442

I haven’t read it but I did find this

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

#74

Post by mjg59 »

bonzini wrote: post #72
dreamcompiler wrote: post #64

Earlier quoted context omitted.

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

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.

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

#75

Post by protocolture »

kstrauser wrote: post #40
JimmyBuckets wrote: post #2

[flagged]

> Most people with down syndrome live happy, fulfilling lives. Correction: the people with Down Syndrome who are capable of meaningfully responding to the question answered a certain way on one survey. Down's affects different people differently. There are plenty of people who don't have the mental facilities to understand the question, let alone respond. I've seen this kind of argument with autism, too. People here…

I have a kiddo with (very likely genetically and behaviourally, but not yet diagnosed by a psych) adhd. He runs us ragged. Love the bugger to death but he is a handful.

We had him at a McDonalds playground the other day, and a nonverbal autistic kid came in escorted by a parent. He immediately got overstimulated and screamed. And ran out.

He started doing laps of the McDonalds. Every time he would pass the play area, his parents would gently guide him towards it, then he would bugger off out the front door again.

He did like 12 laps with his father, 12 laps with his grandfather, then 12 laps with his mother, and eventually he came back to the playground and goofed off a bit with his father again. I could clearly see they were drilled on this behaviour and used to take turns minding him.

They very clearly love their son. But they really don't deserve to have a kid more than 1000 times more difficult than I can even imagine. Like even shifting that kids range a bit so that he could tolerate more play time, and do less laps of the building would help everyone involved. He wouldn't be losing some valuable element of his identity for that to happen.

Whereas my kid might have trouble paying attention to the boring bits in school and want to run around a lot. I am not pining for a cure. We might medicate if it becomes an issue. Its hardly worth talking about in comparison.

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

#77

Post by wqaatwt »

hgoel wrote: post #63
memonkey wrote: post #46

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, fo…

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.

That’s still eugenics, though. Except this time it’s not pseudoscience.

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

#78

Post by michaelmrose »

lynx97 wrote: post #22
almostjazz wrote: post #16

Earlier quoted context omitted.

What exactly is logically impossible about people with down syndrome being happier on average than those without it?

It would break the feeling of superiority of people without that disability. Fact. So they can't believe it.

People with legs are objectively superior to people born without legs. This doesn't imply those without have no value but it would be pretty silly to deliberately bring people into the world without legs if you could easily prevent or fix the problem

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

#80

Post by [deleted] »

shevy-java wrote: post #67
bonsai_spool wrote: post #27

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 patien…

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.

[deleted]
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