Understanding the Simons Simplex Collection: Getting Beyond Autism

The Simons Foundation Autism Research Initiative (SFARI) doles out around $75 million annually to U.S.-based researchers seeking answers to autism's causes and ways to better manage the disease. Ideally, the research SFARI funds goes beyond autism, unearthing insights that benefit our understanding of the healthy and the challenged brain. To that end, in 2011 SFARI completed a complex gene-banking project called the Simons Simplex Collection (SSC), which is, essentially, the organization's crown jewel. Understanding this initiative, and learning what the SSC can tell us about SFARI's philosophy and grantmaking mission, is imperative to anyone seeking money from the organization. (See Simons Foundation: Grants for Brain Research and Treatment.)

The Simons Simplex Collection's primary goal was to create a permanent repository of genetic material from 2,700 families, each of which has one child affected with an autism disorder and unaffected parents and siblings. Because the disorder is present in just one child and not the whole family, the markers and defects causing the disorder — at least in these families — are not inherited, meaning they arise from environmental factors or spontaneously. The ultimate goal is homing in on the varied genetic factors that contribute to autism spectrum disorders. "We plan to focus on identifying these spontaneous variants as a clue to the location of autism-related genes," says Matthew State, PhD, the Yale-based primary investigator for the initiative. "This collaborative effort promises to help provide a comprehensive view of the genetic factors contributing to autism."

Past studies undertaken by SFARI — and at other institutes — have studied inherited autism markers only. (Read SFARI Director Louis Reichardt's IP profile.) The fact that this study is looking at so-called normal genetic material, as well as genetic material taken from children with autism, serves to underline SFARI's key goal of taking any research it sponsors beyond autism and shaking out insights that benefit brain science at large, not only autism research. Keep this in mind as you formulate a proposal for the advisory panel: With this much devotion to an essentially interdisciplinary project, SFARI isn't going to be interested in work that has narrow implications. Go broad, and you just might win big.