Autism Researchers Report Key Genetic Finding

Armen Hareyan's picture

A team of international researchers, including a psychiatrist at University of Iowa Hospitals and Clinics in Iowa City, recently announced the publication of preliminary results from the largest genome scan ever conducted in autism research.

The research consortium discovered 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 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. The research article appears in the journal Nature Genetics, one of the world's most prestigious scientific publications.

This research was performed by more than 120 scientists from over 50 institutions representing 19 nations who formed a first-of-its-kind autism genetics consortium, the Autism Genome Project (AGP). Thomas Wassink, M.D., associate professor in the UI Department of Psychiatry, and Val Sheffield, M.D., Ph.D., professor in the UI Department of Pediatrics and a specialist with Children's Hospital of Iowa, participated in the effort.

"This is exciting news because we have now narrowed the search area on the human genome. The neurexin finding, in particular, has emerged from contributions made by the Iowa autism research team, and we are spearheading the neurexin follow-up work. We thus have a much better idea about where to look for factors that might make a child susceptible to developing an autistic disorder," Wassink said. "Now we can move forward to more precisely pinpoint those genes, which may eventually help us develop better treatments for the disorder."

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Autism Speaks, a nonprofit organization dedicated to increasing awareness of autism and raising money to fund autism research, and the National Institutes of Health, funded the genome scan in the first phase of the project.

Phase 2 of the project represents a $14.5 million investment over three years by Autism Speaks, the British Medical Research Council (MRC), the Health Research Board of Ireland (HRB), Genome Canada and partners, Canadian Institutes for Health Research (CIHR), Southwest Autism Research and Resource Center (SARRC), and the Hilibrand Foundation.

Building on their previous success, the researchers will now apply state-of-art "gene-chip" technologies to scan the genome for association with new genetic markers, as well as sub-microscopic copy number variations (CNVs) along chromosomes in autism.

Autism is a complex brain disorder that inhibits a person's ability to communicate and develop social relationships, and it 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. The Centers for Disease Control and Prevention have called autism a national public health crisis whose cause and cure remain unknown.

Autism Speaks is dedicated to increasing awareness of autism spectrum disorders, to funding research into the causes, prevention, treatments and cure for autism, and to advocating for the needs of affected families. To learn more about Autism Speaks, please visit

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