Probing Autism Genetics

A new research initiative aims to analyze DNA from 50,000 people with autism.

Tanya Lewis
Apr 25, 2016

FLICKR, MEHMET PINARCIThe Simons Foundation Autism Research Initiative (SFARI) is launching the largest study of autism in the U.S. to date, the organization announced last week (April 21). Known as SPARK (Simons Foundation Powering Autism Research for Knowledge), the project aims to collect DNA and other information from 50,000 people with autism and their families to give researchers a better understanding of the disorder.

The new initiative could be used to “guide targeted treatment research based on a patient’s genetic analysis,” Joseph Piven, who is coleading the SPARK team at the University of North Carolina, Chapel Hill, told The Washington Post.

Researchers will collect DNA from saliva samples of study participants with autism and their families, which will be screened for genetic markers of autism, The Seattle Times reported. Autism, a spectrum of disorders that the US Centers for Disease Control and Prevention has estimated affects around 1 in 68 children in the U.S., is thought to have both genetic and environmental causes. At least 50 genes have been linked with autism, and as many as 300 or more could play a role in its development.

The new initiative involves a total of 21 universities as well as both national and local autism community organizations. Anonymized data will be made available to other researchers, who will then have the opportunity to contact the participants for potential enrollment in future studies.

“SPARK will help researchers make new discoveries that will ultimately lead to the development of new supports and treatments to improve the lives of people living with challenges,” study leader Wendy Chung, director of clinical research at SFARI, said in the foundation’s  statement.