NEUROGENETICS & PSYCHIATRIC DISORDERS: Neurodevelopmental and Neurological Disorders
Group
Professor Anthony P. Monaco, Group Head
AUTISM RESEARCH TEAM
The
International Molecular Genetic Study of Autism Consortium (IMGSAC)
Recent news from IMGSAC:
2008
NEW! 1 September 2008.
Conference paper mentions AGP:
"The first autism disease genes", presented at
the 21st Congress of the European College of
Neuropsychopharmacology 2008, Barcelona, Spain
NEW!
March 2008.
IMGSAC: New paper:
Analysis of X
chromosome inactivation in autism spectrum disorders.
[Full article]
2007
April 2007. AGP PROJECT:
IMGSAC to take part in Phase 2 of the Autism Genome Project (AGP)
- now launched.
MORE HERE
February 2007. AGP
PROJECT: Completion of Phase 1 of
the Autism
Genome Project (AGP). IMGSAC a major contributor to the
project. [News
from the WTCHG site] [Article
in Nature Genetics (abstract) ]
MORE HERE
Previous
IMGSAC newsletters here
COMPLETE
LIST of IMGSAC Members
The International
Molecular Genetic Study of Autism Consortium (IMGSAC)
aims to identify
the genes involved in susceptibility to autism, and to
understand the relationship of these genes to clinical
outcome, in order to provide better intervention for
autistic individuals and their families.
IMGSAC
was established in 1994, with the aim of generating
an extensive collection of families with autism, and performing
the first genome screen to look for regions of the human genome
that may confer susceptibility to autism.
It is a
leading international autism consortium
that includes scientific researchers and clinicians from
a number of European countries, as well as from Canada
and the United States.
IMGSAC has
generated an extensive collection of families with
autism, and has led the field
in using sophisticated technology to
examine these families for genes underlying autism susceptibility.
The
results of IMGSAC's research have been published in many
leading scientific journals.
IMGSAC
has established a large collection of samples from
families with autism. The
familes were identified by mailing
health care professionals, members of national autistic
societies, special schools and clinic referrals. Some
families contacted the IMGSAC directly to contribute
samples.
So far, the total number of families in
the IMGSAC collection from which DNA has been extracted is as
follows:
Extensive phenotypic information was
gathered on the individuals in each family, including the
following data:
More here on IMGSAC initial
studies
Our initial studies have indicated that there are
likely to be several genetic regions involved with autism, on
chromosomes 2,7,9,10,16 and 17.
Further details on
IMGSAC Positional/
Functional Candidate Genes
In our search for genetic variants that may increase
the risk of developing autism, we are currently focusing on
examining candidate genes in the principal regions, on
chromosomes 2,7 and 16.
We, and others, are trying to replicate
the findings of our initial studies in independent collections of
autistic patients and their families. IMGSAC's ongoing collection of both
multiplex and simplex families should provide increased statistical power.
We are
also
now targeting the identified chromosome regions of interest
using an increased number of genetic markers and more sensitive
statistical methods. This should enable us to try and
pin-point the positions of the risk genes as accurately
as possible, and we will continue to perform intensive
screening of candidate genes in these regions. The
development of more sophisticated diagnostic measures
will also allow a more powerful analytical approach.
Ultimately, we hope that identification
of the first gene or genes underlying autism
susceptibility should improve our understanding of basic
neurodevelopmental processes. Identification and
characterisation of the first gene involved should
greatly accelerate the discovery of subsequent genes,
and
should lead to a better understanding of
the disease process and other interacting (for example,
environmental) factors. This will provide insights for
improved diagnostic and therapeutic approaches.
In addition, genetic evidence suggests
that genes probably play a larger role in causing autism
than in any other complex psychiatric disorder. Better
resolution of the deficits involved in autism may
therefore also contribute to an understanding of more
common disorders, such as hyperactivity.
2008
New!
March 2008:
Analysis of X chromosome inactivation in
autism spectrum disorders.
Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P,
Delorme R, Durand CM, Fauchereau F, Botros HG, Leboyer M,
Mouren-Simeoni MC, Nygren G, Anckarsäter H, Rastam M, Gillberg
IC, Gillberg C, Moreno-De-Luca D, Carone S, Nummela I, Rossi M,
Battaglia A, Jarvela I, Maestrini E, Bourgeron T; The
International Molecular Genetic Study of Autism Consortium (IMGSAC)
Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 24; [Epub
ahead of print]
[Full article]
2007
November 2007:
Is ASMT a
susceptibility gene for autism spectrum disorders? A replication
study in European populations.
Toma C, Rossi M, Sousa I, Blasi F, Bacchelli E, Alen R, Vanhala
R, Monaco AP, Järvelä I, Maestrini E; International Molecular
Genetic Study of Autism Consortium.
Mol Psychiatry.
2007 Nov;12(11):977-9.
[PubMed record]
[Abstract from
Molecular Psychiatry journal]
COMPLETE LIST: all IMGSAC publications
See also:
List of
IMGSAC Meeting abstracts
The
Consortium is funded in part by project grants from the
following funders:
IMGSAC
has also received grants from the following funders:
-
BIOMED 2 (CT-97-2759)
-
EC Fifth Framework (QLG2-CT-1999-0094)
-
Telethon – Italy (GGP030227)
-
Fondazione Cassa di Risparmio di Bologna
-
The Janus Korczak Foundation
-
Deutsche Forschungsgemeinschaft
-
Fondation France Télécom
-
Conseil Régional Midi-Pyrénées
-
Danish Medical Research Council
-
Sofiefonden
-
The Beatrice Surovell Haskells Fond for Child
Mental Health Research of Copenhagen
-
The
Danish Natural Science Research Council (9802210)
-
The
National Institutes of Health (U19 HD35482, MO1 RR06022,
K05 MH01196, K02 MH01389).
LINKS: further
information on autism, autism organisations and research
Further details on
IMGSAC Positional/ Functional
Candidate Genes
This page is maintained by
Dr Elena Maestrini,
Research Group on Human Molecular Genetics, University
of Bologna:
elena.maestrini@gmail.com.
For all enquiries relating to the
role of the WTCHG Autism research
team please contact:
autism@well.ox.ac.uk
All other enquiries relating to
IMGSAC should be directed to the IMGSAC Coordinator,
Professor Anthony Bailey,
Oxford Autism
Research Centre, (Department of
Psychiatry, University of
Oxford):
anthony.bailey@psych.ox.ac.uk
This project would not be possible
without the cooperation of both the individuals affected
by autism and their
families, and the many referring professionals.
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