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Researchers move 2 steps closer to understanding genetic underpinnings of autism
Date:1/10/2008

tism research. It also highlights the enormous potential of the small science approach. Our initial work used only four affected Amish children. Careful study of these four patients uncovered the association between CNTNAP2 and autistic behaviors. From that small beginning, CNTNAP2 has now been implicated as a significant risk factor for autism.

Autism spectrum disorder (ASD) is a broadly used term for a set of developmental disorders that emerges in infants and young children. ASD impairs a child's intuitive thought, language and social development to varying degrees. Most individuals diagnosed with ASD require lifelong supervision and care; the most severely affected are unable to speak. ASD is the fastest growing developmental disability in the U.S. Two decades ago, roughly one child in 10,000 was diagnosed with ASD; it now affects one in 150 births.

The field of genetics is replete with examples where researchers are unable to reproduce results. Here we have independent confirmation in multiple groups using large samples sizes, said Dr. Stephan. Now that the results of the initial CNTNAP2 gene finding have been replicated, it strongly supports the notion that the broken version of CNTNAP2 is recognized as a cause of autism in the general population.

In collaboration with the Phoenix-based Southwest Autism Research & Resource Center (SARRC), a nonprofit community-based organization dedicated to research, education and resources for individuals with ASDs and their families, TGen will apply these research findings to children in Arizona who have been diagnosed with ASD.

The heterogeneity of the disorder has frustrated our past efforts in the search for causes of autism, said Dr. Raun Melmed, medical director and co-founder of SARRC. This exciting discovery will further our capacity to individualize approaches to the diagnosis and treatment of autism.

The next step, noted Dr. Stephan in the commentary, is to develop a d
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Contact: Amy Erickson
aerickson@tgen.org
602-343-8522
The Translational Genomics Research Institute
Source:Eurekalert

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