• Folstein, Susan (PI)
  • Hallmayer, Joachim (PI)

Project: Research project

Project Details


DESCRIPTION (provided by applicant): Autism is most likely inherited by an
oligogenic mechanism with epistasis. Thus, large samples will be required to
locate the contributing genes, and a number of complementary methods will be
needed. Genome screens of sib pair families have identified a few consistent
chromosomal regions of interest, but there are numerous other suggestive
signals that need to be verified in much larger samples. The purpose of this
application is to facilitate the discovery of the genes that contribute to
autism, by developing and maintaining an infrastructure by which research
groups studying the genetics of autism can work collaboratively. This will be
accomplished through workshops, a Virtual Private Network (VPN), and access to
a database that includes phenotype and genotype data from all participating
groups. Other goals are to develop and continually update information on autism
genetics for families and practitioners. There will be substantial quality
control to assure the accuracy of the data.
The six groups participating in this application have been working together for
18 months toward the goal of establishing an effective means to share data. Any
new group may join at any time, as long as their data meet the volume and
quality standards described in the application. The current groups are the
Collaborative Linkage Study of Autism (Tufts/New England Medical Center,
University of North Carolina at Chapel Hill, Vanderbilt University and the
University of Iowa); Duke University and the University of South Carolina; Mt.
Sinai Medical Center in New York and Trinity University in Dublin, Canadian
Autism Genetics (McMaster University, and the University of Toronto/Hospital
for Sick Children); Stanford; the Paris Autism Research International Sib-pair
Study (INSERM in Paris and Creteil. Goteborg University in Sweden, Ben-Gurion
University in Israel and Hebrew University of Jerusalem in Israel). Currently,
our collective sample numbers nearly 800 sib pair families and also includes
cousin pairs and connecting relatives, uncle/nephew and father/offspring pairs,
trios (one proband and both parents).
We expect that having a forum (both virtual - the VPN and database, and actual
- the workshops) where information can be shared openly and easily will
facilitate the discovery of genes contributing to the cause of autism. The
database will contain large numbers of families and a wealth of phenotype data
which will allow the drawing of sub-samples based on a common phenotype, such
as macrocephaly, absence of functional language, absence of any structural
language abnormality, or prominence of resistance to change.
Effective start/end date9/30/022/28/09


  • National Institutes of Health: $810,686.00
  • National Institutes of Health: $964,777.00


  • Medicine(all)
  • Neuroscience(all)


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