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Feb. 18, 2007
Results from autism genome scan may lead to improved diagnosis and treatment
CHAPEL HILL -- Preliminary results from the largest genome scan ever attempted in autism research were published online Feb. 18 by the journal Nature Genetics.
The results identify new potential pathways involved in autism susceptibility, said Dr. Joseph Piven, professor of psychiatry in the University of North Carolina at Chapel Hill School of Medicine and director of UNC’s Neurodevelopmental Disorders Research Center. Piven played a key role in the multi-center project and is identified in the article as one of the lead investigators.
“The result of this initial phase has opened the door for continued research by the group into the genetic etiology of autism, with the long term goal of improving diagnosis and treatment for patients and their families,” Piven said.
The Autism Genome Project began in 2002 when 120 scientists from more than 50 institutions representing 19 countries decided to share their samples, data and expertise to facilitate the identification of autism susceptibility genes. The first phase of the effort involved the assembly of the largest autism DNA collection ever culled from almost 1,200 participating families and a whole genome linkage scan.
The collaboration was funded by Autism Speaks, a non-profit organization dedicated to increasing awareness of autism and raising money to fund autism research, and the National Institutes of Health.
The consortium searched for genetic commonality in autistic family members. They also scanned DNA from these families for copy number variations, which are genomic insertions and deletions that scientists believe might be involved with this and other common diseases.
These two approaches implicate a previously unidentified region of chromosome 11, as well as the gene 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.
Autism is a complex brain disorder that inhibits a person’s ability to communicate and develop social relationships, and is often accompanied by extreme behavioral challenges. Autism Spectrum Disorders are diagnosed in one in 166 children in the United States, affecting four times as many boys as girls, according to a recent report from the federal Centers for Disease Control and Prevention (CDC). The diagnosis of autism has increased tenfold in the last decade. The CDC has called autism a national public health crisis whose cause and cure remain unknown.
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