SchaferAutismReport: Genome-Wide Study of Autism Published In Nature

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NEWS

Genome-Wide Study of Autism Published In Nature

Fight To Overcome Autism Gets Major Boost, Higher Priority

PUBLIC HEALTH

Former UK Science Chief: 'MMR Fears Coming True'

WA Nurses File Lawsuit Over Mandatory Flu Vaccine

Advocacy Groups Ask Obama to Suspend Hep B Vaccine Birth Dose

Autism at 1 in 91 Children: SafeMinds calls for Thimerosal Ban from

Seasonal & H1N1 Flu Vaccine

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14-year-old Boy Boards Flight Using Mom's Name

COMMENTARY

Autisocaust Denial: What If The Autism Statistics Are Wrong?

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NEWS

Genome-Wide Study of Autism

Published In Nature

eurekalert.org is.gd/431e8

Combining family- and population-based

approaches sheds new light on the potential roles of both common and rare

forms of human genetic variation

In one of the first studies of its kind, an

international team of researchers has uncovered a single-letter change in the

genetic code that is associated with autism. The finding, published in the

October 8 issue of the journal Nature, implicates a neuronal gene not

previously tied to the disorder and more broadly, underscores a role for

common DNA variation. In addition, the new research highlights two other

regions of the genome, which are likely to contain rare genetic differences that

may also influence autism risk.

" These discoveries are an important step

forward, but just one of many that are needed to fully dissect the complex

genetics of this disorder, " said Mark Daly, one of the study's senior

authors, a senior associate member at the Broad Institute of Harvard and MIT

and an associate professor at the Center for Human Genetic Research at

Massachusetts General Hospital (MGH). " The genomic regions we've

identified help shed additional light on the biology of autism and point to

areas that should be prioritized for further study. "

" The biggest challenge to finding the

genes that contribute to autism is having a large and well studied group of

patients and their family members, both for primary discovery of genes and to

test and verify the discovery candidates, " said Aravinda Chakravarti,

professor of medicine, pediatrics and molecular biology and genetics at the

McKusick-s Institute of Genetic Medicine at s Hopkins, and one of

the study's senior authors. " This latest finding would not have been

possible without these many research groups and consortia pooling together

their patient resources. Of course, they would not have been possible without

the genomic scanning technologies either. "

Autism is a common neurodevelopmental disorder

characterized by impaired social, behavioral and communication abilities.

Compared to other complex diseases, which are caused by a complicated mix of

genetic, environmental and other factors, autism is highly heritable — roughly

90% of the disorder is thought to be genetic in origin. Yet the majority of

autism cases cannot be attributed to known inherited causes.

Modern approaches that harness genome-scale

technologies have begun to yield some insights into autism and its genetic

underpinnings. However, the relative importance of common genetic variants,

which are generally present in the human population at a frequency of about

5%, as well as other forms of genetic variation, remains an unresolved

question.

To more deeply probe autism's complex genetic

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Vol.

13 No. 107

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