Researchers at Johns Hopkins'
McKusick-Nathans Institute of Genetic Medicine have
newly generated genetic data to help speed autism research.
The Johns Hopkins data, coordinated
with a similar data release from the Autism Consortium,
aims to help uncover the underlying
hereditary factors and speed the understanding of autism by
encouraging scientific collaboration.
These data provide the most detailed look to date at the
genetic variation patterns in families with
"Autism is a difficult enough genetic mystery for
which we need all of the best minds and
approaches to help unravel the role of genes in this
neuropsychiatric illness," said Aravinda
Chakravarti, director of the Center for Complex Disease
Genomics at Johns Hopkins.
Chakravarti and his team analyzed whole genomes from
1,250 autistic individuals, their siblings
and parents; these samples were collected across the United
States by many researchers under the
aegis of the National Institute of Mental Health, part of
the National Institutes of Health.
Mark Daly, who has collaborated with Chakravarti for
many years, is a senior associate member
of the Broad Institute of MIT and Harvard, and is part of
the Autism Consortium that released data
acquired similarly from 3,000 individuals who are either
affected by autism spectrum disorders or are
family members of individuals with autism. Daly said that
the consortium was releasing raw genotype
data so that other qualified researchers could take a look
at it even as his group was beginning its own
"It is really something of a landmark to have
pre-publication data from our laboratories
available to autism researchers," Chakravarti said. "We are
doing so in the spirit of the human genome
project, where such data releases were critical to progress
long before final results were available.
We are carefully looking at our collaborative findings as
we continue to search for definitive
information about which genes are important in causing
autism spectrum disorders," he said. "We hope
to identify the most likely candidates over the next few
The number of individuals diagnosed with autism
spectrum disorders, which impair thinking,
feeling, language skills and the ability to relate to
others, has significantly increased in recent years.
Although there is some uncertainty about the role that
better recognition and diagnosis of disorders,
as well as biological and environmental factors, plays in
this rise in incidence, there is growing evidence
that genes contribute significantly. The release of the
data from this screen is a significant step
toward identifying those genes.
"Autism spectrum disorders are extremely complex, and
only through collaboration with
researchers with many specialized areas of expertise will
we gain an understanding of what makes
some children susceptible," Daly said.
Thomas Insel, director of the National Institute for
Mental Health, said, "[The] release of
genetic and phenotypic data on autism marks a significant
achievement for the autism research
community. Progress in finding the causes of and cures for
autism spectrum disorders rests in large
part on improving the rapid access and sharing of data and