[autismo-biologia] Adult Autism Strategy consultation

[roberto satolli]

Carissimi, se non lo avete ancora visto vi segnalo un paper su Nature a
proposito della genetica dell'autismo.
Ecco il press release di Nature:

*Genetics: The roots of autism (AOP)*

*DOI: 10.1038/nature09146*


This week in *Nature*, Stephen Scherer and the Autism Genome Project
Consortium describe the results of a genetic analysis of the largest
assemblage of families with autism spectrum disorder.

The autism spectrum disorders (ASDs) are a group of conditions characterized
by highly repetitive behaviour, severely restricted interests, and problems
with social interactions and communication. Although ASDs are known to be
highly heritable, geneticists have struggled to home in on the precise
genetic elements responsible.

The authors looked for copy number variants (CNVs) — segments of DNA for
which the copy number differs between individual genomes — across the
genomes of nearly 1,000 ASD individuals and around 1,200 healthy people.
Their comparison shows that ASD sufferers carry a greater number of rare
CNVs, both inherited and those that have arisen for the first time in the
ASD sufferers. These variants frequently involve coding portions of the
genome.

            The study implicates many novel genes as ASD candidates. For
example, in people with an ASD, CNVs disrupt sets of genes involved in
cellular proliferation, projection and motility, and GTPase/Ras signalling
pathways.

CONTACT

Stephen Scherer (The Hospital for Sick Children, Toronto, Canada)

Tel: +1 416 813 7613; E-mail: stephen.scherer a sickkids.ca



Louise Gallagher (Trinity College Dublin, Ireland)

Tel: +353 1 896 2144; E-mail: gallagh a tcd.ie <lgallagh a tcd.ie>**

* *

Anthony Monaco (University of Oxford, UK)

Tel: +44 1865 287 502; E-mail: anthony.monaco a well.ox.ac.uk



Geri Dawson (Autism Speaks, New York, NY, USA)

E-mail: gdawson a autismspeaks.org

* *

***Please note a telephone press briefing will take place UNDER STRICT
EMBARGO on Tuesday 08 June at 1500 London time (BST) / 1000 US Eastern
Time.**

*

Stephen Scherer, Louise Gallagher, Anthony Monaco and Geri Dawson will
discuss their research. This will be followed by a Q&A session.

* *

*Dial in details are as follows:   ***

For reporters calling from the United Kingdom: 0845 359 0170
For reporters calling from outside the United Kingdom: +44 20 3003 2666
Conference password: *Nature Press Briefing*
Roberto Satolli
Zadig srl
via Calzecchi 10 20133 Milano
via Ravenna 34 00161 Roma
027526131
068175644



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