December 6, 2002

Vanderbilt scientists tracking genetic clues for autism

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From left, Maria Edlin, Susan Whatley, and Jan Blaustone talk at the open house this week for the designation of the Vanderbilt ALS clinic. (photo by Mary Donaldson)

Vanderbilt scientists tracking genetic clues for autism

Scientists at Vanderbilt University Medical Center are searching for genes that may contribute to autism, a developmental disorder that affects a person’s ability to communicate and form relationships with others.

The researchers are seeking families with at least one child between the ages of 4 and 22 who has been diagnosed with “autism spectrum disorder,” which includes a group of autism-like conditions.

“Travel to Vanderbilt is not required. We will go to the family,” says Genea S. Crockett, clinical coordinator of the study. “There is no cost to the family, and we will provide free cognitive testing and results to the family.”

In addition, a blood sample will be collected from all participating family members for genetic studies. More information about the study is available at or by calling Crockett at 343-5855.

The study is being conducted in conjunction with the New England Medical Center in Boston, Mass., and is funded by the National Institute of Mental Health.

Although environmental factors may contribute to the development of autism, increasing evidence indicates that the disorder is due primarily to inherited factors. In particular, genes located in regions of chromosomes 7 and 15 may be involved in autism. Genes involved in control of the neurotransmitter serotonin also may play a role.

That is why blood testing of family members is important, says James S. Sutcliffe, Ph.D., assistant professor of Molecular Physiology and Biophysics, who is leading the Vanderbilt study.

Since the study opened eight months ago, about 15 families have been enrolled in the Vanderbilt study. Researchers will take a detailed medical history from the families in addition to blood samples, and the child or children with autism will undergo cognitive testing.

While the results of the cognitive tests will be provided to families, it may take several years before researchers are able to identify specific genes that contribute to the development of autism, Sutcliffe says.

“The hope is that we find these genes in the next few years,” he says. “As those genes are identified, and we understand how they relate to the risk of autism, we will ultimately be able to diagnose children at an earlier age.

“We also hope to understand how different versions of these genes affect brain development,” Sutcliffe adds. “In the future, it may be possible to tailor specific treatments to children depending on their genetic makeup.”