U-M leading national effort to find the cause of autism

Updated 10:00 AM January 15, 2007

U-M leading national effort to find the cause of autism

By Joe Serwach
News Service

U-M researchers are leading an 11-university consortium to gather and bank DNA samples from 3,000 autism patients over the next three years.

The Simons Simplex Collection Autism Research Initiative, expected to cost $10 million over its first two years, is being spearheaded by Catherine Lord, director of the Autism and Communication Disorders Center.

The consortium also includes: Yale, Harvard, Boston, Columbia and Washington universities; the universities of Washington and Illinois-Chicago; Emory and McGill (Montreal) universities; and the University of California, Los Angeles.

"It's an exciting opportunity," Lord says. "Collecting this data will greatly speed up the process of finding the causes of autism."

Autism is a complex developmental disability that typically appears during the first three years of life. Autistic spectrum disorders impact the normal development of the brain processes related to social interaction and communication skills. Children and adults with autism typically have difficulties with verbal and nonverbal communication, social interaction and leisure or play activities.

The Simons initiative, begun by billionaire money manager Jim Simons and his wife, Marilyn, was set up with the goal of investing $100 million toward finding a cure for the developmental disorder. The Centers for Disease Control estimate that between one and three of every 500 children contract some form of the disease.

While there are core deficits that define autism spectrum disorders (ASD), there also is a great deal of heterogeneity among children and adults with ASD in terms of behaviors, level of functioning and co-morbid conditions such as mental retardation or obsessive-compulsive disorder.

Recent findings in the molecular genetics of autism and in family transmission patterns suggest that there are likely several, if not many, autisms. Researchers say it is important to identify subtypes of forms of autism that are associated with risk factors or etiologies in order to develop appropriate treatments or prevention strategies.

The Simons Initiative to create a collection of simplex samples (families with just one child with autism) is aimed at supporting research across a range of areas with an adequate sample to address different subtypes. The initiative consists of both senior and junior investigator support, as well as the creation of a bank of cell lines and phenotypic data available for scientists around the world.

The concept of a publicly available (through application by scientists) databank builds on the example of the Autism Genetic Recourse Exchange, created by Cure Autism Now several years ago, as well as large-scale research projects such as the Women's Health Initiative.

The Cure Autism Now effort focused on families where two or more siblings have autism but the 11-university effort will tackle the 90 percent of autism cases where the patient is the only member of the family with autism.

Families will be recruited to participate in an initial assessment and then invited into other research projects as work continues. The Simons Initiative will be carried out in existing university-based clinics in different universities throughout North America.

The goal is to collect well-defined, carefully characterized samples of families with one child with autism spectrum disorder and at least one typically developing child.

Lord, a nationally known pioneer in autism research, played a key role in learning how to properly diagnose 2-year-olds a decade ago and is making new gains diagnosing young children at the U-M center.

While medications have helped with related conditions such as depression and hyperactivity, the best way to deal with autism is to intervene as early as possible to treat the condition, Lord says. Children who developed even some very simple speech skills prior to the first time they were evaluated at age 2 were far more likely to overcome the disorder now found in one out of every 200 children, she says.

For more information about participating in the research studies, call the center at 936-8600.

U-M leading national effort to find the cause of autism

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