Scientists Explore Genetic Roots of Autism in Largest Study of Its Kind
Autism is an increasingly common diagnosis, with 2018 estimates from the Center for Disease Control (CDC) finding that 1in 59 children lives with the condition. Yet the underlying causes are complex and not fully understood. Now, scientists are hoping to learn more about the genetic roots of autism through the Simons Foundation Powering Autism Research for Knowledge, or SPARK, the largest genetic study of autism ever undertaken. Dr. Jennifer Gertds, one of the investigators in the study, says she hopes it will shed light on the causes of autism, helping with treatment and intervention in the process. The ambitious study is recruiting 50,000 families throughout the United States, according to an April 2019 report from News ABC13 WLOS, 16,712 families are currently enrolled, according to the study’s website, Sparkforautism.org. The study currently has 25 research partners, and says it has partnered with national and local autism community organizations across the U.S. to help find more.
For families, participation in SPARK simply requires registering online, receiving a saliva collection kit in the mail, and submitting their DNA. Among those participating are the Denisons, an Olympia, Washington family with sons (Kiernan, 5, and Skyler, 19) have both been diagnosed with autism. Their third son, 6-year-old Malachai, is in the process of receiving a diagnosis. “We wanted to be part of something that would help people in the future," Kami Denison, the mother of the boys, was quoted as saying in ABC13’s report. "When we found out about our boys, there's no manual that comes with that. You have to find the information."
Since the Denison’s three boys have different genetic markers putting them at different places on the autism spectrum, scientists hope the SPARK study will help them learn more about the differences between those markers. Lance Denison, the boys’ father, believes the study “seems to carry a lot of promise. And whatever comes of it, whether it's a little or a lot, it's more than we could have done on our own.”
According to its website, SPARK will “provide researchers with medical and genetic information from tens of thousands of individuals and families affected by autism. These data will power important new research that aims to advance the understanding of autism and provide meaningful information and resources to participants.”