Sparking Autism Research Sparking Autism Research

Annual Report

2017 Edition

Sparking Autism Research
Around 10 percent of SPARK participants will receive a result about the genetic cause of their autism, if they elect to receive it. “I had a million questions until we participated in the SPARK study and got the genetic finding,” says Lynn Vigo, left, a mother of an adult with autism. “The finding explained so much of what we struggled to understand.” Watch Vigo’s story here.

Researchers who want to study autism often face a big obstacle before they even get started: how to track down enough individuals and families who meet the criteria for their studies, and then gain their participation. To overcome this obstacle, in April 2016 SFARI launched SPARK (Simons Foundation Powering Autism Research for Knowledge), an initiative that aims to create a repository of genetic and behavioral data from 50,000 individuals with autism and their families. The effort is well on its way.

Two years into the initiative, SPARK has made substantial progress toward its target: more than 39,000 individuals with autism have already enrolled. “There has been an outpouring of support from the community,” says Wendy Chung, the initiative’s principal investigator and SFARI’s director of clinical research.

SPARK participants complete several online questionnaires and mail in saliva samples from themselves and family members. They then have the option of taking part in future research studies, although such participation is never mandatory.

To boost enrollment from fathers, who are underrepresented among SPARK participants, the initiative ran a three-month-long outreach campaign called “Men of Action,” starting on Father’s Day 2017. “This was our first attempt to really connect with dads, and it got a very positive response,” says Amy Daniels, SPARK’s project manager. “We saw a 
notable increase in the number of fathers who enrolled and sent in saliva samples.”

Autism researchers can now apply to SPARK’s research match program, which connects them with appropriate SPARK families for their study. In its first year, the program helped researchers recruit thousands of families for more than 10 studies, ranging from assessments of environmental exposure during pregnancy to clinical investigations of brain function.

“It’s so exciting to see how engaged SPARK participants are and how they are accelerating the pace of research,” says Pamela Feliciano, SPARK’s scientific director.

In addition to providing a platform for researchers to connect with potential study participants, the initiative is also in the process of genetically analyzing the saliva samples, which will vastly expand the pool of genetic data from families with autism. “SPARK families’ data will help power a new level of discovery,” Feliciano says.

To date, SPARK’s genetic analyses have focused on the ‘exome’ — the protein-coding regions of the genome — because those are the regions in which it is easiest to establish a clear causal connection between mutations and autism. SPARK has completed whole-exome sequencing for 488 families and has made the data freely available to scientists. An additional 4,011 families are in the pipeline for whole-exome sequencing.

The initiative maintains a list of high-confidence autism risk genes, and as families are sequenced, they have the option of being notified through a physician or genetic counselor if they have a mutation in one of these high-risk genes. So far, about 5 percent of families have been eligible to receive results, a proportion that is likely to grow as new high-confidence genes are identified. SPARK has already expanded its high-confidence gene list by about 15 percent in the past year, Feliciano says.

In addition to returning genetic results to families, SPARK is starting to provide families with individualized feedback that shows how their child’s social questionnaire score compares with that of other children in SPARK, and it also hosts a series of autism webinars that have attracted more than 4,500 attendees. “An important goal of SPARK is to empower participants with knowledge and access to experts,” Feliciano says. “As a parent of a child with autism myself, I know firsthand how helpful a little bit of data or a new insight can be. We aspire to arm all participants with information that will be useful to them.”

More in


Tracking Twins

Read More

SFARI Research Roundup

Read More

The Hunt For Autism Genes

Read More

Advancing Research in Basic Science and Mathematics Subscribe to our newsletters to receive news & updates