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Large Autism Genetics Study Described

Date Published: 
February 8, 2018

A new article in the journal Neuron describes efforts to recruit and study 50,000 families in the largest U.S. autism genetic research project to date. The project, called SPARK, is funded by the Simons Foundation Autism Research Institute, which also funds the Simons Simplex Community at the Interactive Autism Network.

"Until recently, the genetic architecture of ASD was largely unknown," the Neuron article said.1 Thanks in part to smaller studies, scientists have identified about 90 genes so far that they believe increase the risk of autism spectrum disorder, or ASD. To find more genetic risk factors, they believe they need to examine DNA from "at least 50,000 additional affected individuals."1

By May 2017, after its first 12 months of recruiting, SPARK had enrolled more than 18,000 people with ASD and more than 28,500 of their relatives. SPARK continues to enroll an average of 1,100 participants with autism each month.1

The article was authored by The SPARK Consortium, a large group that includes two directors of the Interactive Autism Network (IAN) at Kennedy Krieger Institute. They are Research Director J. Kiely Law, MD, MPH, and Cheryl Cohen, MS, director of online and community programs. IAN was established in 2006, and is one of the oldest and largest online databases of information provided by people with autism, and their families.

Scientists hope that if they have enough genetic knowledge about autism, they will be able to find treatments that work. "By understanding the underlying mechanisms leading to ASD, we are more likely to develop effective treatments by selecting genetically validated, meaningful therapeutic targets," the article explained.1


  1. The Spark Consortium. SPARK: A US cohort of 50,000 families to accelerate autism research. Neuron. 2018;97(3):488-493.