Autism and its genetic basis have long
been of interest to researchers the world over. The
latest universal effort made in the quest to better identify
and understand autism susceptibility genes, involves research
conducted by a team of more than 120 scientists from over
50 institutions representing 19 countries. European scientists
have succeeded in playing a major role in providing new
insights into the genetic basis of autism. The preliminary
results of this research have been published in the latest
issue of Nature Genetics.
MRIs are used to asses autism in patients.
Scientists from The University of Manchester,
the Institute of Psychiatry at King's College, London
and the University of Oxford were part of the team that
collected and scanned the genomes of families with multiple
cases of autism. Launched in 2002, the project members
exchanged knowledge, data and samples to facilitate the
identification of autism susceptibility genes. The brainchild
of this collaboration was the Autism Genome Project (AGP).
The scientists sampled 1 200 families using ‘gene chip' technology to uncover genetic similarities in autistic people.
The AGP scanned DNA from the families for copy number variations
(CNV) or submicroscopic genomic insertion and deletions that
scientists consider may affect autism and other developmental disorders.
The research team found a previously unidentified region of
chromosome 11 and neurexin 1 (a member of a family of genes
that allegedly play a key role in the contact and communication
of neurons). During the first phase of the project, the largest
autism DNA collection ever was gathered and scanned. The NGO Autism
Speaks financially backed the first phase of the project.
Bob Wright, co-founder and Chairman of the Board, Autism
Speaks, said: “The identification of susceptibility genes will
provide profound new insight into the basis of autism offering
a route to breakthroughs in new treatments in support of families.”
The scientists are now getting phase 2 off the ground. This
phase will be developed on the success of the linkage scan.
A consortium that includes Autism Speaks, the UK Medical Research
Council (MRC), the Irish Health Research Board (HRB), and Genome
Canada is shelling out more than €11 million from now until
2010 as investment for this project.
The University of Manchester's Jonathan Green, who led the
clinical fieldwork in Manchester, said: “Autism is a very
difficult condition for families – communication is taken for
granted by parents of healthy children, but is so greatly missed
by those with autistic children.” Professor Green noted the
Manchester team is currently working to investigate the basic
science and develop and test new treatments for the condition.
“We hope that these exciting results may represent a step on
the way to further new treatments in the future,” he explained.
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