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Re: Autism

By: DigSpace in ALEA | Recommend this post (0)
Sun, 26 Aug 12 5:37 AM | 68 view(s)
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Msg. 09562 of 54959
(This msg. is a reply to 09561 by DigSpace)

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I hope I am now back on topic.


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The above is a reply to the following message:
Autism
By: DigSpace
in ALEA
Sun, 26 Aug 12 5:34 AM
Msg. 09561 of 54959

Seriously. I'm not kidding. I do work with autistic kids. Not a bunch, but I do. O.K. leave shiny wrench guy out of it.

Recent DNA sequencing techniques have developed to the point where while it was once a mountain to sequence a representative of one whole human genome, now we can pretty much crank one out when we bump into somebody who is interesting.

People with autism are interesting. Interesting because, among other things, their disorder lands smack dab in the middle of what we call human ... our society, our language, are social interactions.

Classical genetic transmission of autism is well observed. But there were so many founder types, no family history, nothing anywhere and boom ... there it is. These days, really only in the last 5 years, we can simply access the genome of such an individual.

What is being found is changes, often massive changes, occur in at the sperm-egg level. Mom is normal, dad is normal, and they are cranking out lots of NEW variation just in the gamete production process.

For example, it is now known that certain duplicates of a 21 gene region on chromosome 7 lead to autism. Socially withdrawn, blah blah blah. Conversely, and to huge fascination, cohorts have been isolated where a deletion in this same region has been found ... and these kids want to know allll about you forever, they live only for the social interaction. Crap, seems the kids can't bother to eat by my observation, "where are you from, what's your favorite food" ... amplified a million fold.

So one extra set there and you are an asocial autistic, cut one out and you are annoyingly interested.

Same goes for HIV research, finding the "resistant" genes, some folks just don't get sick ... fine sequence them ... it used to be science bumped into the outliers and said "wow" now they simply get the full DNA data set on anybody interesting.

Expect an absolute unimaginable explosion of insight.

The situation is beyond surreal.

Billions of people, millions of outliers, and now the tools to pretty cheaply take a full genetic snapshot whenever one sees fit.

Staggering... truly staggering.

The smart, the shy, the fast the slow ... within the last 5 years the tech has developed to look at individuals, the software is up to speed to process this material.

Wow.

The popular press is talking about genetic revolutions that are 20 years old.

This is really something. I'll come up with some links and content on this later.



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