An important goal of SFARI is to create tools that scientists can use to enhance our understanding of autism. Last fall, we released the first set of phenotype data and DNA from the Simons Simplex Collection (SSC). The SSC is a tool of fundamental importance that will facilitate the identification of autism genetic risk factors. Studying alterations in gene structure and function is a crucial first step toward understanding underlying molecular mechanisms. This information will, in turn, lead us to new therapeutics and to a better understanding of environmental influences on the developing nervous system.

The SSC aims to establish a repository of genetic samples and phenotypic data from simplex families, where one child is diagnosed with an Autism Spectrum Disorder while both parents and other siblings are unaffected. Our initial goal is to identify de novo copy number variants (chromosomal deletions or duplications) in probands from 2,000 families.

To deal with the massive amounts of phenotypic and genetic data, we have created an interactive database called SFARI Base that will allow sophisticated queries of the data, and hopefully uncover new correlations.

We recently unveiled SFARI Gene, a new online autism gene database that appears on our website. SFARI Gene collects information on genes linked to Autism Spectrum Disorders from the published scientific literature. This publicly available database will be expanded by addition of new, interactive modules that incorporate genetic structural alterations as well as biochemical, physiological and anatomic data. SFARI Director’s Letter “To deal with the massive amounts of phenotypic and genetic data, we have created an interactive database called SFARI Base that will allow sophisticated queries of the data, and hopefully uncover new correlations.”

A critically important “tool” is an interactive community of scholars dedicated to sharing information, research reagents, animals, and most important, ideas to enhance autism research. To build this community, we have organized a series of workshops at the Simons Foundation and many discussions with individuals and small groups, and we are looking forward to our first Annual Science Meeting in New Orleans in April 2009. We will expand the number of workshops in the coming year as collaborations expand and questions become better defined. Our website will serve as an important resource for Simons Investigators and for all other scientists with interests in related areas.

At the present time, we fund research in three areas: gene discovery, molecular mechanisms, and cognition and behavior. Our hope is to blur the distinctions, technical hurdles and strategic barriers that keep these approaches too far apart. A list of Simons Investigators can be found at sfari.org/investigators.

We are not alone in the effort to understand autism. This effort goes to the core of the human condition, so one can expect that real advances will take the combined efforts of a worldwide community of scientists of all stripes. We look forward to building partnerships in the coming years.

Gerald D. Fischbach
SFARI Director