Canadian Team Finds Genetic Markers for Autism

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CelticGoddess
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18 Feb 2007, 8:22 pm

Some exciting research breakthroughs.

http://www.ctv.ca/servlet/ArticleNews/s ... TopStories

Canadian researchers have led an international team in the discovery of a chromosomal region containing the genes that cause autism, a finding considered a breakthrough in the effort to better understand the condition.

Researchers at Hospital for Sick Children in Toronto and the Offord Centre for Child Studies say the finding is a major breakthrough in the effort to better understand the condition and to eventually improve treatment for patients.

The discovery was part of the largest genome scan ever attempted in autism research. Called the Autism Genome Project, the initiative involved 137 researchers from 50 institiutions in nine countries, including Canada.

Working together, the scientists were able to share samples, data, and expertise to analyze DNA from about 1,600 families worldwide.

They zeroed in on a special group of neurons and the genes affecting their development and function. They then used cutting-edge Copy Number Variation (CNV) analysis to look for genetic commonality as well as unique differences in autistic individual.

The scientists were able to implicate a previously unidentified region of chromosome 11, and neurexin 1, a member of a family of genes believed to be important in neuronal contact and communication.

The neurexin finding in particular highlights a special group of neurons, called glutamate neurons, that could play a critical role in autism spectrum disorders.

"The clinical implications of this discovery are unprecedented," said Dr. Peter Szatmari, director of the Offord Centre for Child Studies.

"Not only have we found which haystack the needle is in, we now know where in the haystack that needle is located.

Dr. Stephen Scherer, a senior scientist in Genetics and Genomic Biology at SickKids, was the first to discover the existence of common genetic variants and is delighted with the discoveries the consortium was able to make.

"We first used genome scanning technology to test genetic markers in autistic children and find regions in the genome linking to autism susceptibility genes," said Dr. Scherer, a senior scientist in Genetics and Genomic Biology at SickKids.

"By combining this with cutting edge CNV analysis we were able to reveal, for the first time, the genetic architecture underlying autism susceptibility."

The findings have been published online in the prestigious journal Nature Genetics.

Autism affects roughly one in 165 children, making it the most common form of any neurological disorder or severe developmental disability of childhood.

Those affected exhibit severe impairments in reciprocal social interaction and communication, and a preference for repetitive, stereotyped behaviours.



CockneyRebel
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18 Feb 2007, 8:33 pm

I find that very exciting. :P



SilentJohn
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18 Feb 2007, 9:17 pm

ok so what the hell good use is that research & info? all they can do is abort pre-autistic babies(which in my opinion is wrong)
they can't stop any of the genetic formations/whatever before the babies are born, or even after, that would be tampering with God's will...if they find a way to cure my ass of A.S>, I'm 17, i'd jump on that oppurtunity immediately though!



CelticGoddess
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18 Feb 2007, 9:37 pm

SilentJohn wrote:
ok so what the hell good use is that research & info? all they can do is abort pre-autistic babies(which in my opinion is wrong)
they can't stop any of the genetic formations/whatever before the babies are born, or even after, that would be tampering with God's will...if they find a way to cure my ass of A.S>, I'm 17, i'd jump on that oppurtunity immediately though!


What it does is gives them a bigger window of opportunity for early intervention. If you think about it, if you know that your child has chance of being autistic, then there are markers you can look for in development and behaviour. The earlier you can treat it proactively, the better it is for a child. It's harder to try and treat a child who's 12 and undo negative coping mechanisms that are so concrete for the child because he/she has been doing them for 12 years than it is to start at the age of 1 or 2 and give them proactive skills.

besides, if they know what the genetic markers are it probably wouldn't even get to abortion because if they tested the parents, one or both of them would probably have the marker themselves and then they could decide whether or not they want to have biological children. That's common with a lot of diseases/disorders etc.



KBABZ
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18 Feb 2007, 11:16 pm

Now if they could detect the genes for how SEVERE it is, then I'd be impressed.


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kpupg
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19 Feb 2007, 12:04 am

John is right. Where have all the Down's Syndrome babies gone? That's what they'll do to us when they get prenatal diagnostics. :cry:



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19 Feb 2007, 2:01 am

Let's hope this breakthrough will finally shut those curbies up, who believe that 'MMR vaccine' or 'pure environment' causes Autism.

To be honest, I have a rather mixed feeling about this breakthrough though, but happy that it finally confirms a genetic cause conclusively.


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agent79
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19 Feb 2007, 10:02 am

kpupg wrote:
John is right. Where have all the Down's Syndrome babies gone? That's what they'll do to us when they get prenatal diagnostics. :cry:


Lots of people---me included---didn't do any genetic testing during pregnancy.

I'll love whatever God sends me. So...I see no point in finding out.

We knew that we were at risk for Down's (on my husband's side of the family) and ASD's (both sides of our family) when we got pregnant with my son.

We didn't test, because we would never abort.

There are many people like me in this world. I wouldn't worry as much about genetic testing eradicating Autism.

I do find this research exciting, because of the early intervention implications.


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CelticGoddess
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19 Feb 2007, 1:56 pm

agent79 wrote:
kpupg wrote:
John is right. Where have all the Down's Syndrome babies gone? That's what they'll do to us when they get prenatal diagnostics. :cry:


Lots of people---me included---didn't do any genetic testing during pregnancy.

I'll love whatever God sends me. So...I see no point in finding out.

We knew that we were at risk for Down's (on my husband's side of the family) and ASD's (both sides of our family) when we got pregnant with my son.

We didn't test, because we would never abort.

There are many people like me in this world. I wouldn't worry as much about genetic testing eradicating Autism.

I do find this research exciting, because of the early intervention implications.


Exactly. We made the same choice with both of our pregnancies and we ended up with one Aspie and one NT. We won't test with the third potential child either whenever we decide to have another baby.

As for Down's...lots of Down's babies being born every year. I know of three in my circle of friends alone. All under 3 years old.



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19 Feb 2007, 6:02 pm

I'll have to read the article in nature, but it does sound kind of weird.
A lot of genome scans have been done over the last decade, and none of them have strongly associated chr. 11. Chr. 2,7 and 15 are, however, likely candidates. A lot of scientists call their own results fantastic because it is good for research funding.

Also, don't worry about prenatal screening: autism is genetically complex and heterogenic, meaning between 4 and 15 genes have to be combined to give autism susceptibility, and two different people with autism may have totally different gene combinations.
Also, autism is multifactorial: 90% genetics, 10% "everything else".



headphase
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19 Feb 2007, 7:12 pm

We're doomed.



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19 Feb 2007, 10:26 pm

I am very entertained by the fact that the hospital is named "The Hospital for Sick Children." I guess they wanted to make sure everyone was very clear on what they do/have there.



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19 Feb 2007, 10:45 pm

katrine wrote:
I'll have to read the article in nature, but it does sound kind of weird.
A lot of genome scans have been done over the last decade, and none of them have strongly associated chr. 11. Chr. 2,7 and 15 are, however, likely candidates. A lot of scientists call their own results fantastic because it is good for research funding.

Also, don't worry about prenatal screening: autism is genetically complex and heterogenic, meaning between 4 and 15 genes have to be combined to give autism susceptibility, and two different people with autism may have totally different gene combinations.
Also, autism is multifactorial: 90% genetics, 10% "everything else".


I bet the aliens designed us to be hard to detect prenatally.


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