Editor’s note: As of November 14, 2017, a total of 12,250 families have signed up.
The past decade has witnessed the confirmation of the idea that autism is frequently caused by spontaneous gene mutations — and that the genes responsible may be discovered by sequencing large numbers of families affected by the condition. Sequencing studies of cohorts such as the Simons Simplex Collection — a repository of genetic, biological and behavioral data from more than 2,600 families consisting of one child with autism and unaffected parents and siblings — have already established more than 70 high-confidence autism risk genes and several hundred more candidate genes.
But between 500 and 1,000 genes are believed to underlie the condition, and researchers have long known that uncovering them all will require a much larger number of families. To tackle this challenge, in April 2016 SFARI announced the launch of SPARK (Simons Foundation Powering Autism Research for Knowledge), an initiative that will collect behavioral profiles and DNA samples from 50,000 families affected by autism over the next four years. Already, the initiative has enrolled more than 20,000 individuals with autism.
Having genetic data from 50,000 families should bring the autism research community closer to ‘saturation’ in terms of cataloging the genetic causes of autism, says Wendy Chung, the initiative’s principal investigator and SFARI’s director of clinical research. “At SFARI, one of our basic beliefs is that a true understanding of the genetic causes of autism will anchor us in terms of understanding the biological mechanisms,” Chung says. “So 50,000 families became the goal for SPARK.”