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Updated 10:00 AM March 5, 2007




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Largest DNA scan for familial autism finds two genetic links

U-M autism researchers and their colleagues at 50 institutions have announced initial findings from the largest genome autism scan yet completed.

Over the past five years, 120 scientists from around the world created the Autism Genome Project, assembling a massive DNA bank and conducting a comprehensive genome scan to find the genes that cause autism. Researchers now have begun a three-year, $14.5 million second phase to apply gene chip technologies to scan the genomes for association with new genetic markers.

"This a great example of many competing groups of scientists agreeing to come together to do analyses they couldn't have done on their own," says Catherine Lord, director of the U-M Autism and Communication Disorders Center.

The Autism Genome Project collected DNA from families with two or more children with Autism Spectrum Disorder—representing less than 10 percent of children with autism. These families particularly are interesting to geneticists focused on finding out what patterns are passed from parents to children.

U-M announced last month that it is leading a separate 11-university consortium to begin the new Simons Simplex Collection Autism Research Initiative, with the goal of gathering and banking DNA samples from 2-3,000 autism patients from families with one child with autism.

The Simons Simplex Collection is searching for new mutations that might cause autism, each of which would have a large effect. The Autism Genome Project is looking for mutations that may be passed from one generation to the next. Individual mutations in the families with more than one child with autism likely interact with each other, contributing to the inheritance of the disorder. While the two projects have different goals, many researchers are involved with both.

"The measures used to diagnose autism and to describe the children in each sample are the same, so it will be possible to compare the samples," Lord says.

For the Autism Genome Project, the University recruited families with more than one child with autism from Michigan and nearby states, asking many local families to share their time and blood samples to participate in this study. As a way to thank families for their time, the autism center has organized an annual meeting of families with more than one child with autism so they can meet each other.

U-M also has worked with other researchers for many years to develop gold standard measures for diagnosis, allowing the data from the various sites to be analyzed together. It would not have been possible to combine samples across different sites prior to the existence of these measures because each of them would have been using different criteria for who had autism.

The consortium leveraged the unprecedented statistical power generated by its unique sample set by using gene chip technology to look for genetic commonalities in individuals with autism culled from nearly 1,200 families.

Autism Speaks, a nonprofit organization dedicated to increasing awareness of autism and raising money to fund autism research, the National Institutes of Health and several other international medical research organizations funded the effort.

Lord, a nationally known pioneer in autism research, played a key role in learning how to properly diagnose two-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, she says. Although individuals with autism continue to learn throughout their lives, progress in the very early years may set the stage for more rapid and general improvements in this disorder that, based on the latest estimates of the Centers for Disease Control, appears to occur in more than one out of every 200 children, she says.

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