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