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'Realistic Hope' For A Devastating Disorder: Autism

Jun 4, 2007 6:00 PM

After more than 60 years of studying autism, researchers believe they have the tools to start understanding the mysterious disorder--and School of Medicine (SOM) faculty members are making important contributions to the effort.

University researchers are using groundbreaking technology and techniques to look for genes and DNA mutations associated with autism, study whether the disorder is related to immunological problems, and take images that track changes in the brain as autism progresses. Putting those pieces together in a clear picture is a huge and complex challenge. But recent discoveries have shown step-by-step progress in understanding autism, a disorder that impairs basic aspects of social, behavioral, and communication development in more than 6,000 Utahns.

"As we learn more about the genetic and biological pathways, there is realistic hope we'll be able to treat or even prevent autism," says William M. McMahon, M.D., professor of psychiatry.

McMahon and other School of Medicine faculty are principal or co-investigators in major studies investigating autism in Utah, the nation, and throughout the world. Two of those studies, with the international Autism Genome Project and the U.S. Centers for Disease Control and Prevention, recently reported finding a gene that may contribute to autism and also the startling discovery that the disorder is 20 times more prevalent nationwide than 20 years ago. Utah had the third highest autism rate of the 14 states studied.

Hilary Coon, Ph.D., research professor of psychiatry, and Judith P. Zimmerman, Ph.D., assistant professor of psychiatry, were respective co-investigators with McMahon on those studies. Last year, Coon led a group of University researchers in the Utah Autism Project, which identified a region on Chromosome 3 that also may harbor autism-related genes.

The University also is one of nine major academic U.S. medical centers designated by the National Institute of Child and Human Development as Collaborative Programs of Excellence in Autism, a long-term project investigating autism in several aspects, including imaging and immunology. McMahon is the University's principal investigator for this project, but he's joined by several other faculty on different aspects of the study. Janet E. Lainhart, M.D., associate professor of psychiatry, is the School of Medicine's principal investigator to develop and use new imaging methods to track long-term changes in the brains of people with autism. Robert S. Fujinami, Ph.D., professor of neurology, is principal investigator searching for potential immunological mechanisms involved in autism. Coon is heading up a component looking for genetic triggers of the disorder.

Lainhart expects great strides in the next five to 10 years, but is humbled by how much remains to be learned about autism. Up to 15 genes are suspected to be associated with autism, and identifying those genes and how they interact with each other and environmental factors will take years. Different genes may be associated with the disorder in different children, according to Lainhart.

Still, in a disorder that yielded little light for decades, Lainhart is encouraged. "The time is ripe," she says. "Within the next few years we should understand autism far better."

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