
CRISPR therapy may reverse autism gene mutation effects in mice: study - daegloe
https://www.spectrumnews.org/news/crispr-therapy-may-reverse-autism-mutations-effects-well-past-infancy/
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skissane
ASD isn't really a single condition. It is actually a vast array of different
conditions, with a wide array of different genetic and environmental causes.
This therapy is only treating one single genetic cause of ASD; most people
diagnosed with ASD, their symptoms are not due to this gene. In fact, many
cases of ASD probably aren't due to a single gene at all, but a complex
interaction of multiple factors, both genetic and environmental.

The big problem with ASD research is ASD's lack of validity (see [1]'s
conclusion "The findings reviewed indicate that the ASD diagnosis lacks
biological and construct validity"). How do we know that ASD is a condition
which really exists in nature, as opposed to simply an arbitrary grouping of
symptoms with disparate unrelated causes? Honestly, we don't know that at all,
and as this paper argues, there are good reasons to believe the later rather
than the former is true. Researchers have been searching for years for
evidence for the former proposition, and nothing convincing has been found; at
some point, the logical conclusion is you can't find what doesn't exist to be
found.

[1]
[https://link.springer.com/article/10.1007/s40489-016-0085-x](https://link.springer.com/article/10.1007/s40489-016-0085-x)

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hoopism
My daughter was diagnosed with Autism at 16 months. Just this year (she is 6
now) we found a genetic cause (SCN2A, the one mentioned here). We have
invested a ton of time and energy into therapies and she is doing very well...
I wonder how receiving the diagnosis in reverse would have affected us
mentally. I have met others who got genetic results and pushed more into
finding a cure. I always felt like any potential "cure" wouldn't be in her
lifetime... now I wonder.

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asdfx
What tests are done to determine genetic cause? This would be really helpful,
appreciate your info

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hoopism
We did a genetic test for small number of well known genetic disabilities when
she was younger that did not yield a result. Our neurologist then recommended
a "whole exome sequencing" a few years later. This is where we found a result.

Insurance is often reluctant to cover this but it's SOMEWHAT affordable (want
to say 2-3k with some hospital magic discounts). I can't say it has affected
our course of treatment but we were concerned about what other health related
issues may be associated with the diagnosis. And it is somewhat promising that
a treatment may someday be available.

I would highly recommend pushing for testing. I am told they continually with
run your results against know mutations as they find more. So even if you
don't get a result today you may someday.

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asdfx
Thank you for the elaborate response, this is helpful

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pavel_lishin
I'm sure there are plenty of people who identify as on the spectrum here on
HN; I'd like to ask y'all:

If this were available tomorrow, safe for human applications and without any
side-effects other than what it says on the tin: would any of you opt for
this?

What are the ethics applications of using a treatment like this on people who
are so deeply impacted by autism that they can't meaningfully give consent?

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hirundo
Also if you're on the spectrum, if there was a drug that could make someone
autistic temporarily, would you recommend it to others?

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thanatropism
Not autistic, but bipolar: you can achieve a reasonable simulation of euphoric
mania, but that's not quite the same as a lifetime of dealing with that.

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krageon
It is not the same, but it is equally amazing. Of course euphoric mania has
the significant downside of being measurably harmful to your brain in the long
term and is thus perhaps not a good comparison.

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buboard
This is the issue with science journalism: this should not be news - not yet.
They should keep working with colleagues and report when the human trials are
underway. It doesnt help the general public that these preliminary data are
out , and in fact it erodes trust and creates complications. I know scientists
are hard pressed to publicise their work for funding, but it should stay
within the SFN conference for now

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retnuhllort
I'm not in favor of managing information flow to the general public so they
"trust" the source. What if a member of the public reads this, and learns more
about the topic. Is that a bad outcome?

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buboard
There is too much of it, and it's contradictory. Someone who is interested in
SCN2A could scan the abstrats of the SfN conference in a few days to find
everything they need. But too much echoing of preliminary results in popular
media creates false expectations and contradictions all the time. People
absolutely should have access to preliminary scientific literature, just not
through the popular press maybe

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Cybernetic
I have Autism. I don't know how I feel about this. It's exciting, but would a
reversal remove advantageous traits of Autism too? There is little information
about adults with Autism compared to what's available about adolescents. In my
experience much of the info is about living with disabilities associated with
Autism. I haven't found any research that focuses on the beneficial aspects of
Autism - anecdotally I feel there are abilities of mind across the Autism
spectrum that are especially useful, and for some, seemingly super-human.
While one may gain some social skills, how much of their unique abilities
would be lost to this process?

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Erwin
Elizabeth Moon (fantasy and mil sci fi writer and a former marine) happened to
write a book about almost exactly this modification being available:
[https://www.amazon.com/Speed-Dark-Novel-Elizabeth-Moon-
ebook...](https://www.amazon.com/Speed-Dark-Novel-Elizabeth-Moon-
ebook/dp/B004BDOJN6) \-- I enjoyed that more than the canonical "Flowers for
Algernon"

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Porthos9K
Oddly enough, Amazon claims the book isn't available.

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ImaCake
This is just a useful model. All it's doing is allowing scientist to study the
effects of disease and later switch it off again. As a kind of control. Plenty
of useful data will come from this model, but the model itself isn't
interesting to anyone not into Autism and Molecular Biology.

The title is technically correct in the worst way. Sure, it tells the truth,
but it implies a lot of things which are not true.

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shaggyfrog
(in mice)

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not_a_cop75
= in early trials

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batiste
So, this is a reverse vaccin?

