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Autism Speaks and the World's Leading Autism Experts Announce the

Publication of the Autism Genome Project Phase 1 Results

Preliminary Results of the Autism Genome Project Published in Nature

Genetics

NEW YORK, NY (February 18, 2007) -- Autism Speaks , a non-profit

organization dedicated to increasing awareness of autism and raising money to

fund

autism research, together with an international consortium of researchers and

participating families, today announced the publication of the preliminary

results from the largest-ever autism genome scan in _Nature Genetics_

(http://www.nature.com/ng/index.html) , one of the world's most prestigious

research

publications.

This research was performed by over 120 scientists from more than 50

institutions representing 19 countries who formed a first-of-its-kind autism

genetics consortium, the Autism Genome Project (AGP). The AGP began in 2002 when

researchers from around the world decided to come together and share their

samples, data, and expertise to facilitate the identification of autism

susceptibility genes. The first phase of the effort, the assembly of the largest

autism

DNA collection ever and whole genome linkage scan, was funded by Autism

Speaks and the U.S. National Institutes of Health. The launch of phase two of

the

project, building on the success of the linkage scan, is being announced in

ten days.

The consortium leveraged the unprecedented statistical power generated by

its unique sample set by using “gene chip†technology to look for genetic

commonality in autistic individuals culled from almost 1,200 families. One

third

of the DNA and clinical data was provided by the Autism Genetic Resource

Exchange (AGRE). The AGP also scanned DNA from these families for copy number

variations (CNV), or sub-microscopic genomic insertions and deletions that

scientists believe might be involved with this and other common diseases. The

innovative combination of these two approaches implicates 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, among other

regions and genes in the genome. The neurexin finding in particular highlights

a

special group of neurons, called glutamate neurons, and the genes affecting

their development and function, suggesting they play a critical role in autism

spectrum disorders.

“By combining cutting edge CNV analysis with the more traditional linkage

and association [analyses], the scientists now have a promising new

experimental framework to look for autism susceptibility genes,†said Andy

Shih, Autism

Speaks chief science officer. “These exciting findings from the AGP linkage

scan confirm the value and contribution of multidisciplinary collaboration to

advancing autism research.â€

The AGP Consortium believes the identification of susceptibility genes will

provide profound new insight into the basis of autism offering a route to

breakthroughs in diagnosis and new treatments in support of families.

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