Simons Foundation

advancing research in basic sciences and mathematics

SFARI  (sfari.org)

Letter from director

Autism is a developmental disorder that was first described more than 70 years ago. Clinical descriptions have become more precise with time, and new diagnostic instruments have quantified cardinal clinical features across the entire spectrum of autism disorders.

Due in part to these improvements in diagnosis, the number of children identified as having autism has steadily risen over the past two decades. Despite the increasing awareness of autism, however, the disorder's causes remain mysterious.

However, we have good reasons to hope that, in the near future, we will understand much more about what causes autism. Recent advances in genetics and neuroscience have led to new hypotheses, and to the discovery of molecular, anatomical and functional 'biomarkers' that will facilitate research.

  • The rapid development of genetic technologies, including high-resolution comparative genome hybridization and high throughput DNA sequencing, has intensified the search for risk genes. It is clear that no single gene causes all manifestations of autism, but the identification of genetic risk factors will turn attention to relevant biochemical pathways, regions of the brain and critical times during development.
  • New methods for characterizing neural circuits and for manipulating genes that alter circuit function can help understand learning, memory and the 'social brain'. They also offer the exciting possibility of preventing or even reversing errors in development that predispose to autism.
  • High-resolution brain imaging and new methods for recording electromagnetic signals from populations of nerve cells have led to testable hypotheses about social cognition, language delay and repetitive behaviors. SFARI, the Simons Foundation Autism Research Initiative, is funding research in each of these areas. We have also initiated an unprecedented effort to characterize 2,000 'simplex' families.
  • There is a growing excitement in the autism research community. New, talented investigators have been attracted to the field, and hopes are high that major advances are on the horizon.

Gerald D. Fischbach
SFARI Director