Autism gene hunt based here in Valley - East Valley Tribune: News

Autism gene hunt based here in Valley

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Posted: Monday, July 19, 2004 6:38 am | Updated: 4:53 pm, Thu Oct 6, 2011.

The mysteries that have long shrouded autism could be uncovered within a year in the Valley, where the first phase of the world’s largest genetic research project on autism begins this month.

The National Alliance for Au tism Research will announce today that it has selected the Phoenix-based Translational Genomics Research Institute, in partnership with the Southwest Au tism Research and Resource Center, to complete the enormous and groundbreaking task of identifying what regions in the human genome show susceptibility to autism. The findings will help scientists identify which genes place people at risk for the disease, how autism develops and ultimately, develop targeted treatments for the neurological disorder.

"This is by far the largest autism genome study ever done," said Dietrich Stephan, director of neurogenomics at the institute. "With the massive sample size, we’re opti- mistic we’ll finally figure this out."

The institute has already started receiving an expected 6,300 DNA samples from families worldwide who have at least two children with autism. Using new DNA array technology from Affimetrix that quickly scans each person’s genetic blueprint on small glass chips, institute scientists will be able to pinpoint the parts of those blueprints that are broken and lead to autism.

"We’re hedging our bets that we’ll be finding a chunk of chromosomes that people with autism have that people without autism don’t have," Stephan said.

The effort is the first phase of the national alliance’s Autism Genome Project, a more than $20 million gene-mapping program with the National Institutes of Health announced last year.

Researchers have long suspected that genetic and environmental factors play a role in autism, an increasingly common disease that is hard to diagnose and even harder to treat.

Becky and Bryan Anderson of Mesa said their family makeup demonstrates the influence of genetics. Of six children, the Andersons have two sons — Kevin, 11, and Peter, 9 — with autism.

Although the Andersons are not involved in the international DNA study announced today, they are participating in a local study by the institute and the Southwest center of 1,000 children with autism and a control group of 1,000 children without the disease. The local study, which is still recruiting participants, will examine DNA, RNA, proteins, brain images and environmental factors.

"I’m just interested in what the genetic code might be in terms of them having children of their own," Becky Anderson said.

Scientists hope findings from the autism genome project could show couples their genetic risk for having a child with autism and identify earlier a child’s genetic risk for developing the disease.

Without a way to diagnose autism biologically, doctors make a behavioral diagnosis in children based on symptoms that don’t typically appear right away.

"The challenge is many parents suspect something’s wrong, but they won’t know until their children are 2 or 3," said Andy Shih, director of research and programs at the national alliance. "If we have a gene-based diagnosis, we can identify susceptibility or risk factors early on. Early intervention leads to a better prognosis."

Kevin and Peter Anderson were developing normally their first two years. Then, newfound skills started disappearing.

They spoke less frequently and forgot what to do with the soap in the bathtub or a fork at the dinner table.

Peter began to isolate himself.

As Kevin’s condition grew more severe, he failed to respond to commands, became aggressive toward others and abusive toward himself, and ultimately stopped speaking altogether.

"What’s frustrating is you have this child who’s so severely affected by this disease, but you have to figure out how to deal with it," Becky Anderson said. "Sometimes I wish (Kevin) could tell me what’s going on."

The helplessness that parents of an autistic child feel has helped build a strong community of families desperate for answers through research, said Howard Sobelman of Scottsdale, who hopes his 5-year-old autistic son, Tyler, will speak soon.

"One of the main things a parent wants to do is help their child. In this case, no matter how much you want to help them, there’s not as much you can do because there are so many unknowns," Sobelman said.

By October or November, researchers at the institute will send data from the DNA samples back to the more than 150 researchers worldwide who supplied the genetic material, Shih said. After several months of analysis, the consortium of researchers will publish a paper on its results, and the research will continue.

"Within the next 10 years, we’ll see improvements in not only diagnosis, but also treatment and intervention, because of this project," Shih said.

Facts about autism

What it is: Here are some facts about autism from the U.S. Centers for Disease Control and Prevention, National Institutes of Health and National Alliance for Autism Research:

• Autism is the most prevalent developmental disorder.

• Autism affects as many as one in every 166 U.S. children.

• Cases of autism are growing 10 percent to 17 percent each year.

• Autism is four times as prevalent in boys than girls.

• A family with one autistic child has a 5 percent to 10 percent chance of having another autistic child.

Learn more: For more information about autism or the research studies, call the Southwest Autism Research and Resource Center at (602) 340-8717 or visit www.autismcenter.org/.

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