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ASPartOfMe
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19 Aug 2022, 11:27 am

Largest study yet identifies over 200 genes strongly linked to autism

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An analysis of over 150,000 people, 20,000 of whom have autism, revealed over 250 genes that have strong links with the condition, marking the largest and most comprehensive study of its kind to date. Findings were published in the journal Nature Genetics.

Findings open up the possibility for a precision medicine approach to autism, a personalized care process that is gaining popularity in other disease states where genetic mutations increase certain risks.

“Some individuals with autism spectrum disorder carry functional mutations rarely observed in the general population,” researchers explained. To better understand genes disrupted by these variants, investigators assessed data from participants of the Autism Sequencing Consortium, the Simons Foundation Powering Autism Research initiative, and three other consortia.

Authors hope the findings will help foster future insights on the molecular roots of brain development and neurodiversity, while enabling future research on the condition’s biology.

Previous research has already revealed mutated genes contribute to autism. However, “in this unprecedented study, we were able to bring together multiple types of mutations in a wide array of samples to get a much richer sense of the genes and genetic architecture involved in autism and other neurodevelopmental conditions,” said co-author Joseph D. Buxbaum, of the Seaver Autism Center for Research and Treatment at Mount Sinai, in a statement.

Results might also yield potential targets for autism treatment.

Several analyses were carried out as part of the study, one of which revealed autism-related genes were more active in more mature neurons, while genes associated with developmental delay were more active in early neuronal development. An additional analysis showed genes strongly linked with autism were more likely to also be associated with genes that increase schizophrenia risk, researchers said, underscoring the shared genetic risk factors between autism and other psychiatric disorders.

Based on the findings, genetic testing is warranted, authors say, to identify those at risk and drive therapeutic development


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CockneyRebel
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21 Aug 2022, 9:26 am

That really scares me. That means that we're closer to a genetic test. I don't want that to happen. It's bad enough that a genetic test had to be developed for Down Syndrome.


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ASPartOfMe
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21 Aug 2022, 11:41 am

CockneyRebel wrote:
That really scares me. That means that we're closer to a genetic test. I don't want that to happen. It's bad enough that a genetic test had to be developed for Down Syndrome.

Be it through “consumer eugenics” which means it is not legally mandated or ABA therapies the successfully intercepts the genetically instructed brain wiring to be autistic a cure for autism or many autisms I think will be found.

That is why a more positive representations of Autism are necessary so people are less likely to choose to abort of cure.


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“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman


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21 Aug 2022, 12:39 pm

I honestly am looking forward to having a genetic test. If that had been a thing when I was a kid or adolescent, then my autism probably wouldn't have been as easily dismissed when I was assessed. I wouldn't have gotten pulled from special ed. and help classes so I would have done better in school, and would have had other resources available to me. The diagnosis of ASD being solely up to the subjective, biased opinion of someone isn't necessarily a good thing, and bars a lot of people from getting proper help and accommodations.



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21 Aug 2022, 3:15 pm

Its inevitable that genetic engineering will be introduced to autism.

In fact since there are many autisms genetic testing can help determine which autisms are "harmless differences" and which are bad for the person so it helps the ND cause to defend the ones which are differences and leave the harmful ones to science to invent treatments for.

Unless people are against abortion for genuine religious reasons (something i respect) i dont see why as adults they get so stressed out at the thought of autistic fetuses being aborted anymore than NT ones.

About 99% of abortions are on NT fetuses.


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ASPartOfMe
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21 Aug 2022, 11:09 pm

carlos55 wrote:
Its inevitable that genetic engineering will be introduced to autism.

In fact since there are many autisms genetic testing can help determine which autisms are "harmless differences" and which are bad for the person so it helps the ND cause to defend the ones which are differences and leave the harmful ones to science to invent treatments for.

Unless people are against abortion for genuine religious reasons (something i respect) i dont see why as adults they get so stressed out at the thought of autistic fetuses being aborted anymore than NT ones.

About 99% of abortions are on NT fetuses.

Less Autistics, less or no support and more harassment.


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“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman


CockneyRebel
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22 Aug 2022, 7:43 am

I'm having visions of a nurse chasing me with the needle right now. That's how comparable this is in my mind.


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