Largest autism study to take place in San Diego

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UCSD-Medical-Center

UC San Diego School of Medicine

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LA JOLLA, Calif. — The UC San Diego School of Medicine announced Thursday that it will be part of an effort to collect DNA samples from 50,000 autism patients aged 3 to 100, in what is being touted as the largest study of the disorder ever undertaken in the U.S.

Karen Pierce, an associate professor of neurosciences at UCSD, and her colleagues will seek 3,000 study participants diagnosed with autism, and their family members, in the San Diego region and in Phoenix, where she’s conducting other autism-related research.

“Autism has a strong genetic component, but there’s a lot of heterogeneity in the genes involved,” said Pierce, a co-director of UCSD’s Autism Center of Excellence. “More than 50 genes have been identified that almost certainly play a role in autism, but there may be 300 or more.”

Sponsored by the Simons Foundation Autism Research Initiative, based in New York, the study is called SPARK — for Simons Foundation Powering Autism Research for Knowledge — and involves 21 research institutions across the country that are recruiting participants and collecting data.

“One of the major challenges in autism genetics research is sample size,” Pierce said.

“Individual projects may fail to find genetic abnormalities, not because they aren’t there, but because the sample size is just too small,” she said. “SPARK addresses that by pulling together information and data from not just 50,000 persons with autism, but also family members, such as both parents.”

Pierce said the study will provide researchers with an abundance of material to study and share, so they’ll be able to look more effectively for relevant biological mechanisms behind autism, and how genetic and environmental factors interact to result in autism spectrum disorder.

Years ago, children with autism were not identified, helped or treated until they were 5 to 10 years old, or even older, Pierce said. Now, most clinicians and researchers are aiming for early diagnosis and treatment, which gives patients a significantly better chance of improvement, she said.

For more information on the study, contact study coordinator Erin Bower at 858-534-6906 or email her at e1bower@ucsd.edu.

 

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