TGen And SARRC Announce Clinical Research Project

TGen And SARRC Announce Clinical Research Project Aimed At Determining Underlying Causes Of Autism
Study Will Involve More Than 1,000 Affected Children in Arizona

November 19, 2003

The Translational Genomics Research Institute (TGen) and the Southwest Autism Research & Resource Center (SARRC) today announced the launch one of the most comprehensive genomic studies of autistic disorders in the world. This patient-driven study aimed at determining the underlying causes of autism, the most prevalent childhood developmental disorder in the United States, will attempt to identify the specific genetic alterations that lead to autism and those responsible for the most severe forms of the disorder. The study marks the first research collaboration between the two organizations, which joined forces in April.

Autism is a neurobiological disorder that manifests during the first three years of life. It impairs an individual's ability to communicate, socialize and think logically. Today, one child in 250 under age 10 is diagnosed with this lifetime disorder.

To locate the gene or genes responsible for autism, the researchers and clinicians will recruit and study the genetic backgrounds of more than 1,000 affected children and their family members; 1,000 non-affected typical peers also will be recruited. Study leaders enlisted the help of the Grand Canyon Council of the Boy Scouts and the Arizona Cactus-Pine Council of the Girl Scouts, which have committed to recruiting non-affected volunteer control participants.

SARRC and TGen are currently seeking funding from granting organizations, private foundations, government agencies and individuals to fund the four-year, $8 million project.

Research Plan
The SARRC - TGen research plan consists of a comprehensive strategy that may allow discoveries to be made at several cellular levels. Genes and the proteins they produce will be examined with the hope of finding genetic changes in the affected cases compared with non-affected cases. This will give researchers important clues as to what alterations are happening at the cellular level that may contribute to the disorder. The information gleaned from the affected individuals and their families will be analyzed by researchers, clinicians and a statistical geneticist with the hope of better understanding the cause of this mysterious disorder.

"This large of a population-based genome approach has never been conducted before and is possible now because of the completion of the Human Genome Project," said Dr. Dietrich Stephan, director of TGen's Neurogenomics Division. "The entire field has been waiting for the day when researchers are able to scan the genomes of hundreds of unrelated individuals in a case control fashion and find subtle differences between these groups. TGen and SARRC now have this ability."

Stephan and his SARRC collaborators are actively seeking patients and families affected by autism who are willing to participate in these studies aimed at fully understanding the genetic and environmental causes of autism.

"This systematic approach for capturing all the variables may ultimately lead to the identification of genome alterations that interact with the environment to predispose one to autism," Stephan said.

"While autism remains a mysterious and devastating disorder, its causes most likely combine genetic and environmental factors," said Dr. Raun Melmed, SARRC medical director and co-founder. "By looking at underlying biological reasons for autism, the way it manifests itself as a child develops, and potential environmental factors, we expect to find important answers for affected children and their families, and the children of our future."

The first phase of the study calls for the recruitment of 50 families with two or more affected individuals. Research protocol approval has been granted from the Western Institutional Review Board. All family specific data will remain confidential and all practices will conform to the Health Insurance Portability & Accountability Act (HIPAA).

To learn more about the study or to volunteer, please call SARRC at (602) 340-8717.

About TGen and SARRC
TGen is a non-profit biomedical research institute whose mission is to make and translate genomic discoveries into advances in human health.

The Southwest Autism Research and Resource Center (SARRC) is a nonprofit, community-based organization dedicated to autism research, education and resources for children and young adults with autistic disorders and their families. SARRC undertakes self-directed and collaborative research projects, serves as a satellite site for national and international projects, and provides up-to-date information, training and assistance to families and professionals about autism and related disorders. For more information about SARRC, call (602) 340-8717 or visit

Galen Perry
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