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Autism
Genome Project delivers genetic discovery
Autism
Genome Project delivers genetic discovery
Date:
April 24,
2014
Source:
Autism Speaks
Summary:
A new study from investigators with the Autism Genome
Project, the world's largest research project on identifying genes associated
with risk for autism, has found that the comprehensive use of copy number
variant genetic testing offers an important tool in individualized diagnosis
and treatment of autism. The study delivers on the 10-year project's objective
to provide practical methods for earlier diagnosis and personalized treatment
of autism.
...........................
A new study from investigators with the Autism Genome
Project, the world's largest research project on identifying genes associated
with risk for autism, has found that the comprehensive use of copy number
variant (CNV) genetic testing offers an important tool in individualized
diagnosis and treatment of autism.
Funded
primarily by Autism Speaks, the world's leading autism science and advocacy
organization, the Autism Genome Project involved more than 50 research centers
in 11 countries. The report, published today in the American Journal of
Human Genetics, delivers on the 10-year project's objective to provide
practical methods for earlier diagnosis and personalized treatment of autism.
"With
the publication of this study, we should step back to recognize and celebrate
the pioneering achievements of the AGP and what they have accomplished in
helping to launch the field of genomic risk discovery in autism," says
Autism Speaks Chief Science Officer Rob Ring. "The AGP has generated
information that holds the potential to guide medical care for certain
individuals with autism today. They have demonstrated that science can work for
families, and Autism Speaks is proud to have been a supporter of the work all
along the way."
The study
involved CNV testing of 2,446 families affected by autism and 4,768 individuals
unaffected by neurologic or psychiatric disorders. Overall, CNVs were
significantly more common in the participating families affected by autism.
And, the CNV testing uncovered dozens of cases where autism-linked gene changes
were associated with additional health risks warranting medical attention.
In nine of
the families affected by autism, CNVs involved a gene that indicates elevated
risk for seizures and epilepsy. "This result warrants an immediate
referral to a neurologist," explains senior author Stephen Scherer of the
Toronto's Hospital for Sick Children and the University of Toronto. Similarly,
CNV testing indicated a high risk for muscular dystrophy in several of the
autism families and identified syndromes associated with heart problems in
others.
CNVs are
genetic changes that involve duplication or deletion of entire segments of DNA.
They do not typically show up on standard genetic tests which search for
"spelling mistakes" in the DNA letters that compose a gene. Those
standard tests identify a clear genetic autism link in only 15 to 20 percent of
the cases.
"This
report and its extensive supplements should become a new guidebook for medical
geneticists working with families affected by autism," Dr. Scherer says.
In addition,
the study added dozens of genes to the growing list of those that contribute to
the development of autism. Surprisingly, the autism genes identified through
CNV testing had little overlap with those detected using standard exome gene
sequencing, yet researchers say they affect the same brain pathways.
"These
gene discoveries will help guide further research on autism subtypes and their
treatment," Dr. Scherer says.
In response,
the investigators urge medical geneticists to add CNV testing to the standard
gene tests for autism and to consult medical recommendations for the many
autism-linked syndromes that CNV testing can reveal. CNV testing is currently
available, though it's not typically part of standard genetic testing for
autism. Whole genome sequencing is the next step in genetic testing for Autism
but is not yet widely available in ordinary medical settings. Autism Speaks has
taken a world-leadership position in in this direction with its Autism Ten
Thousand Genomes (Aut10K) program.
Story
Source:
The above
story is based on materials provided by Autism Speaks. Note: Materials may be edited for
content and length.
Cite This
Page:
Autism Speaks. "Autism Genome
Project delivers genetic discovery." ScienceDaily. ScienceDaily, 24 April
2014. <www.sciencedaily.com/releases/2014/04/140424151831.htm>.
