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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

#131

Post by rob74 »

dpiers wrote: post #88
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…

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…

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?

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

#132

Post by mmustapic »

voidUpdate wrote: post #102
mmustapic wrote: post #99

Earlier quoted context omitted.

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.

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

#133

Post by cindyllm »

TurdF3rguson wrote: post #120
hgoel wrote: post #110

Earlier quoted context omitted.

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 yo…

[dead]

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

#134

Post by falcor84 »

Qem wrote: post #127
dpiers wrote: post #88

Earlier quoted context omitted.

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…

> 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.

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

#135

Post by dyauspitr »

simiones wrote: post #113
robertjpayne wrote: post #104

Earlier quoted context omitted.

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 sho…

> lead to a false positive for 98-99 healthy embryos per 1000 live births.

The number you’re looking for is 9, not 99

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

#136

Post by simiones »

dyauspitr wrote: post #135
simiones wrote: post #113

Earlier quoted context omitted.

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 sho…

> 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]...

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

#137

Post by bonzini »

mjg59 wrote: post #74
bonzini wrote: post #72

Earlier quoted context omitted.

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?...

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

#138

Post by MSFT_Edging »

CalRobert wrote: post #124
flextheruler wrote: post #119

Earlier quoted context omitted.

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 ca…

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.

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

#139

Post by Symmetry »

sheept wrote: post #61
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…

> 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).

Likewise humans with heterochromatic eyes are generally women.

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

#140

Post by codytruscott »

simiones wrote: post #113
robertjpayne wrote: post #104

Earlier quoted context omitted.

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 sho…

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.

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