SPARK

SPARK (Simons Foundation Powering Autism Research for Knowledge) is an autism research initiative that aims to recruit, engage and retain a community of 50,000 individuals with autism and their family members living in the U.S.

Participation in this cohort involves the contribution of medical and behavioral information, mailing in saliva for genetic analysis, the potential option to have genetic findings related to autism returned, and the option to be recontacted to participate in future research studies. This community of engaged participants will provide researchers with an efficient way to invite individuals to participate in their research.

This research project is centrally coordinated by the Simons Foundation Autism Research Initiative (SFARI) and includes collaboration with 31 university-affiliated research clinics in 26 states across the U.S. SFARI launched a pilot phase of the project in December 2015 with three clinical sites. An additional 18 sites began recruiting individuals with autism and their families in April 2016, 4 more sites began in April 2017 and the remaining sites in March 2019.

In addition, numerous national and local autism community organizations across the U.S. are partnering with SFARI to help recruit participants and spread the word about this landmark study.

Researchers can request de-identified phenotypic and genetic data and submit an application to recruit SPARK participants into new autism research studies through SFARI Base. The SPARK Recruitment Process Document provides answers to many frequently asked questions.

Families who are interested in learning more about SPARK or in participating can visit SPARKforAutism.org.

Phenotypic Data

Phenotypic data from 150,064 individuals (including more than 59,000 individuals with ASD) are currently available to approved researchers via SFARI Base. These individuals include:

• 21,689 trios (individuals with ASD and both biological parents)
• 50,505 children (under 18 years of age) with ASD
• 8,713 adults with ASD
• 40,840 males with ASD
• 11,104 females with ASD
• 24,076 unaffected siblings
• 3,953 enrolled twins, triplets and quadruplets
• 6,552 multiplex families

A summary of the phenotypic data that is available for these participants can be accessed here.

A summary of demographic and clinical information for participants included in the previous data release is available here.

Genomic Data

Genomic data (whole-exome sequencing and genome-wide genotyping data) for 27,615 participants (including 5,279 simplex families with 2,785 unaffected siblings and 2,529 parent-child duos) are currently available to approved researchers via SFARI Base.

Whole-genome sequencing data from approximately 400 quads will be available later this year.

There will be a publication embargo for 6 months after all genomic data is released that will prohibit submission of manuscripts for publication.

A preprint that summarizes results from a pilot study ‬that genetically characterized 457 families enrolled in SPARK is available here:‬

• Feliciano P. et al. bioRxiv (2019) Preprint