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Autism researchers announce breakthrough in identifying gene
Autism researchers at UM and other universities announced a genetic breakthrough that could lead to improved treatment and prevention of the disorder.
BY FRED TASKER
ftasker@MiamiHerald.com
Researchers say they have found the first piece of the genetic puzzle that could lead to greatly improved diagnosis, treatment and even prevention of autism.

A multi-university team, which included the University of Miami School of Medicine, has identified a gene associated with autism, according to a report published Tuesday in the peer-reviewed medical journal Nature.

It may be only one of as many as 50 genes involved, and environmental factors are also involved, but Margaret Pericak-Vance, director of UM's Institute for Human Genomics, says the discovery could lead to practical results within a decade.

''Things are moving so fast, in the next five years or so you can see some of this information being translated maybe into prediction, even therapies,'' she said.

Therapies that would prevent autism are ''farther down the pike,'' she said.

The study is a collaboration of the UM institute, Vanderbilt University, Children's Hospital of Philadelphia, the University of Washington in Seattle and the University of California, Los Angeles.

In the study, research teams visited a dozen sites around the country and studied more than 10,000 subjects, including individuals with autism spectrum disorder, family members and volunteers without the disorder.

Autism is a serious developmental problem that usually appears before age 3, affecting a child's ability to communicate and interact with others. Experts believe autism affects as many as one in 150 children in the United States, making it one of the most common neurodevelopmental disorders.

The apparent culprit is a gene involved in making connections among cells in the developing brain, the study said.

Diagnosing autism is often difficult because it manifests itself in different ways in different children. Treatment and therapies also are in flux. Some focus on reducing problem behaviors, while others set up highly structured educational programs or rely on drugs. Getting a firmer grasp on autism's genetic makeup could make drug therapies much more effective, Pericak-Vance said.

Because individuals with autism vary so widely, many autism researchers had doubted that common genetic factors ever would be found. The breakthrough was possible because of the mapping of the human genome, a 15-year project by hundreds of genetics researchers completed in 2003, which identified and mapped the 25,000 or so genes that control and operate the human body.

It also was assisted by cutting-edge technology -- a lightning-fast, $1 million-plus ''Illumina Platform,'' an ungainly machine that used computer chips to compare, contrast and analyze thousands of genetic-factor samples from the 10,000 test subjects.

Pericak-Vance has been instrumental in gene research, making similar discoveries about the genetic background of Alzheimer's disease in 1993, multiple sclerosis in 2000 and macular degeneration in 2005.

She is one of nearly 50 top researchers recruited from Duke University by UM Medical School dean Pascal Goldschmidt, who in turn was recruited from Duke by UM president Donna Shalala in 2006 as part of Shalala's $1 billion program to create the Institute of Human Genomics to boost UM's reputation as a research institution.

Thomas Lehner, branch chief of the Genomics Research Branch of the National Institute of Mental Health, which was not part of the study, called the finding ``exciting.''

''The more we understand the biology of autism, the more likely we are to find treatments that may lead to prevention,'' he said.

Autism is one of the most genetically complex disorders, Pericak-Vance said.

Unlike breast cancer, which in some cases can be strongly predicted by the existence of a single gene, autism may be caused by up to 50 genes interacting with each other, the prenatal and postnatal environment and lifestyle.

''Now it might be possible to see if different children respond differently to various therapies -- both drug therapies and behavioral therapies -- so you don't have to go through so much trial and error,'' she said.

Pericak-Vance compared the discovery to solving a jigsaw puzzle -- with the first gene identified, others will be easier to place.

``You think you have a 100-piece puzzle, and then it turns out to be a 1,000-piece puzzle, and you throw it on the table and you go crazy because you can't find anything. Then you find a corner piece, and then the outside rim starts falling into place.

``Well, we've got a big corner piece now.''