Researchers from UCSD’s Autism Center of Excellence announced that they have joined the largest study of autism in the history of the United States last Thursday. The study is called SPARK — or the Simons Foundation Powering Autism Research for Knowledge — and aims to improve the understanding, diagnosis and treatment of autism-spectrum disorders.
The study, through the collaboration of 21 research institutions across the country, aims to provide the research community with the genetic information of a large sample of individuals with autism. The researchers hope the DNA analyses will further their understanding of how genetic and environmental factors interact to cause the disorder, in order to develop more effective treatments and support.
UCSD associate professor of neurosciences Karen Pierce, co-director of ACE and SPARK researcher — emphasized the widespread network the center has within the autism community in San Diego as one of the reasons they were selected for the grant.
“We are one of the largest autism centers in the country, in terms of the scope and depth of research that we do [and] in terms of the sample sizes that we are able to recruit,” Pierce told the UCSD Guardian. “Through our relationship [with the community] and through those connections we’ve screened over 6,000 babies here in San Diego for possible autism.”
ACE is currently recruiting 3,000 participants diagnosed with autism and two of their family members to make a “trio” for a total of 9,000 individuals from San Diego and Phoenix, Arizona over a period of two years. Each participant will register online and will to receive a saliva collection for DNA analysis that will be sent back to a central laboratory to be analyzed. Individuals with a professional diagnosis of autism will receive a $50 gift card and access to online resources and research news.
According to Pierce, the typical autism study has a sample size of 40 to 50 individuals due to the difficulties of obtaining large sets of data from the population. The study’s undertaking of a sample size of 50,000 individuals across the country will require heavy recruitment and the use of networks throughout the community.
UCSD professor of cognitive science Jaime Pineda, who has a peripheral interest in autism research as it relates to social cognition, feels that the initiative is important but could be broader in its scope.
“[The study] will have a huge impact on anyone doing autism research since it will, undoubtedly, bring us closer to understanding the causes of the disorder,” Pineda said. “[But] as welcome as the initiative is, its focus [on the causes] is really one-sided and it would have been better, from my perspective, to focus both on the causes and the cures.”
According to SFARI, the premise of the study is open-ended and may lead to a variety of follow-up studies that address more care-based aspects of treating autism.
“SPARK is not only focusing on causes of the disorder.,” a statement from SFARI read. “A key part of SPARK is collecting DNA to sequence genes to improve understanding of the role of specific genes in the development of autism. By studying these genes, associated biological mechanisms and how genetics interact with environmental factors, researchers can better understand the condition’s causes, and link them to the spectrum of symptoms, skills and challenges of those affected – with the hopes of ultimately influencing therapy outcomes.”
Pamela Feliciano, the scientific director of SPARK, emphasized how the relationships formed through this study will be one of the most worthwhile outcomes.
“A big goal of SPARK is to form meaningful partnerships between people with autism, their families and scientists,” Feliciano told the Guardian. “SPARK is going to collect an incredible amount of data — not to mention create a ready group of receptive research participants — that autism scientists so desperately need to speed up the pace of research. And I think people who join SPARK will probably learn a lot about themselves, their child with autism and about autism in general, and that’s going to be meaningful.”
For more information or to enroll in the study, please contact the SPARK clinical coordinator Erin Bower at (858) 534-6906 or email her at [email protected].