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UC San Diego Researchers Join Largest Autism Study Ever in United States

Effort seeks to analyze DNA from 50,000 persons with autism and their families


  • Scott LaFee

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  • Scott LaFee

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Autism experts at University of California San Diego Autism Center of Excellence (ACE) at the School of Medicine will be part of the largest autism study ever undertaken in the United States – an effort to collect information and DNA from 50,000 individuals, ages 3 to 100, with the neurodevelopmental disorder.

Image: Karen Pierce, PhD

Karen Pierce, PhD

Sponsored by the Simons Foundation Autism Research Initiative (SFARI), the study is called SPARK (Simons Foundation Powering Autism Research for Knowledge) and involves 21 leading research institutions across the country, each recruiting participants and collecting data.

“Autism has a strong genetic component, but there’s a lot of heterogeneity in the genes involved. More than 50 genes have been identified that almost certainly play a role in autism, but there may be 300 or more,” said Karen Pierce, PhD, associate professor of neurosciences, co-director of ACE and a SPARK researcher.

“One of the major challenges in autism genetics research is sample size. Individual projects may fail to find genetic abnormalities, not because they aren’t there, but because the sample size is just too small. 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. With such an abundance of material to study and share, researchers will be able to look more effectively for relevant biological mechanisms and how genetic and environmental factors interact to result in autism spectrum disorder (ASD).”

As part of SPARK, Pierce and colleagues will seek 3,000 participants diagnosed with autism and their family members in the San Diego region and in the Phoenix, Ariz. area, where Pierce is conducting other autism-related research. The SPARK study is relatively straightforward. Participants fill out a form online, then receive a free kit containing materials and directions for returning saliva samples to scientists for analysis. Qualifying SPARK participants receive a $50 gift card and access to online resources and research news.

SPARK data is expected to fuel numerous subsequent studies targeting key questions about the genetics and biology of autism, according to organizers. Participants will have input in determining the research agenda and can join studies offered through SPARK. The effort is fully funded by SFARI, established in 2005 to promote and sustain autism research. With a budget of $60 million, SFARI currently supports 175 investigators and projects.

For more information or to enroll in the study visit SPARK or call 858-534-6906.

Pierce and colleagues at ACE have long been leaders in autism research. For example, Pierce developed the Get SET Early program for autism, which enables San Diego pediatricians to screen for early symptoms of ASD at all well-baby exams, starting at 12 months. Babies determined to be at-risk receive free early diagnostic evaluations and developmental testing at ACE. Babies exhibiting signs of autism or other signs of developmental delay enter treatment immediately.

In recent years, more than 50,000 infants and toddlers in San Diego have been screened through Get SET Early program and pediatrician network, with ASD toddlers receiving services and treatment at approximately 15 months of age, several years earlier than the national average. Pierce has expanded Get SET Early, which is funded by the National Institute of Mental Health, to other cities.

“When I started in the field 25 years ago, children with autism were not identified, helped and treated until they were much older, often not until they were 5 to 10 years old or even older,” Pierce said. “Nobody thought autism was easily treatable, let alone curable. Today, most clinicians and researchers have the opposite feeling: there is definitely a significant chance of improvement, especially with early diagnosis and treatment.”

Genetics research through SPARK also complements several ongoing studies at ACE under Eric Courchesne, PhD, professor of neurosciences and co-director of ACE. Courchesne studies how specific genes and systems result in specific signs of ASD and symptoms in the first years of life. Recently, Courchesne and colleagues discovered a simple blood-based signature of autism at ages as young as 1 to 2 years. In another study, they found a brain activity signature that indicates which 1 to 2 year olds with autism are likely to have better language outcomes later in life.

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