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Releases Packard
Children's News
Children's Fund
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Attacking Autism on All FrontsBY MARK SHWARTZ WINTER 2006 -- As many as 1 in 166 children in the United States have been diagnosed with an autistic disorder. In severe autism, the patient may never speak or show any sign of affection. In mild cases, the child may be socially awkward or endlessly recite unconnected and obscure facts.
"We see hundreds of families who have children with autism," says Carl Feinstein, MD, a child psychiatrist at Lucile Packard Children's Hospital and chief of the Division of Child and Adolescent Psychiatry at Stanford. "Parents are asking, why isn't there a cure?" While drugs, special education, and behavioral therapy are useful in managing some symptoms of autism, researchers have yet to find the underlying cause of the disease, let alone a cure. "Most expert clinicians have come to the conclusion that we need to know what is going on in the brain cells of people with autism in order to cure or prevent it," notes Feinstein. "How are their brain cells different from other people's brain cells? What is malfunctioning in the way they are connected and which genes contribute to the disease?" To achieve a fuller understanding of the role of genetics and neural development in autism, Feinstein joined forces with Stanford molecular physiologist Richard Tsien, DPhil. Together, they formed the Stanford Autism Working Group -- a collaboration of physicians, geneticists, neuroscientists, cell biologists, and bioengineers dedicated to discovering the neurological and biological basis of this complex disease. One leading hypothesis is that autism results when neurons (nerve cells) in the brain malfunction, says Tsien, whose lab focuses on the complicated biochemistry of neurons and how they transmit and receive signals at the molecular level. "There is a very strong genetic component to autism as well, because genes control the cell biology of neurons—but the exact mechanism is not so clear," he explains. Bringing together clinicians and basic research scientists gives the Autism Working Group a unique perspective, Tsien adds. "We're really a diverse bunch of people from many scientific disciplines, with wellestablished leaders and rising young stars, who came together under the aegis of the Neuroscience Institute at Stanford," he says. "We talk different lingoes, but we have a joint interest in autism." Collaborative ProjectsIn addition to maintaining his or her own lab research, each faculty member in the Autism Working Group has developed collaborative projects designed to tackle tough problems. One team of psychiatrists and geneticists is looking at autism in twins. Led by Stanford research psychiatrist Joachim Hallmayer, MD, the group is overseeing the largest population-based study of twins with autism. With this unique sample, Hallmayer and his colleagues are analyzing the twins' genes to better understand the heritability of autism and how genetic and environmental factors contribute to the range of symptoms, particularly cognitive deficits seen in children with autism.
In another study, Antonio Hardan, MD, assistant professor of psychiatry and behavioral sciences, and his colleagues are applying neuroimaging techniques to investigate the size and structure of the brain. "We want to see if certain physical aspects of the brain indicate a greater vulnerability to autism," he says. "One of the most consistent findings is that children with autism have larger brains." He and his colleagues also plan to examine twins with autism in future studies. "The Autism Working Group provides a wonderful opportunity to integrate science and clinical medicine," says Heidi Feldman, MD, PhD, who directs the new Developmental and Behavioral Pediatrics Program at Packard. "Right now, we're just treating the symptoms of autism, not the condition. If we can identify the role of genes and neurons in the disease, then we may be able to create drugs or behavioral therapies that counter the deleterious actions of those genes. There may be a molecule that can turn off a gene or negate its influence on a neurotransmitter. Or say that a gene isn't making enough of a particular protein. Then maybe we can treat that." Feinstein and Tsien are hopeful that the brainpower they've brought together will help find a cure for this serious, mysterious disease. "Stanford has some of the best neuroscientists and clinicians in the world, and to get them to work together is fantastic," say Feinstein. "We're passionate about being able to work on something that affects families so deeply," adds Tsien.
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