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

Todays issue of the American Journal of Human Genetics (AJHG), describes what might be a corner piece of the autism puzzlethe identification and subsequent validation of a gene linked to the development of autism by three separate groups of scientists. An accompanying commentary by Dr. Dietrich Stephan, Director of the Neurogenomics Division at the Translational Genomics Research Institutes (TGen), further explains the findings.

Autism is a perplexing disease whose cause remains unexplained. It has long been suggested that environmental factors, linked with genetics, play a role in causing the disorder. As recently as last week, researchers in California published a study that found no proof linking autism with a mercury-based preservative found in childhood vaccines. While there are no clear-cut answers, researchers are one step closer to understanding autisms genetic cause.

In March 2006, Dr. Stephan, Director of TGens Neurogenomics Division, led a team of researchers at TGen and collaborators at the Clinic for Special Children (CSC) in Strasburg, PA, that identified a gene called CNTNAP2. When mutated, this gene indicated a predisposition to autism in a specific population of Old Order Amish children from Pennsylvania.

One of the most important principles in science is the ability to replicate results. Now, three groups of researchers from Yale University, the University of California, Los Angeles, and the Johns Hopkins University, have replicated the initial finding in the general population, unequivocally implicating this gene as causing the newly defined Type 1 autism. All three studies plus Dr. Stephans commentary are published in the January edition of AJHG.

According to Dr. Erik Puffenberger, Laboratory Director of the Clinic for Special Children, Our previous finding of association between loss of CNTNAP2 function and autistic behavior has been validated in the general population. This is a very exciting step for au
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Contact: Amy Erickson
aerickson@tgen.org
602-343-8522
The Translational Genomics Research Institute
Source:Eurekalert

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