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Study Description
The root causes of autism remain unknown, limiting efforts to understand disease heterogeneity, diagnose cases, and prevent and treat disease. Epidemiological findings have repeatedly and unequivocally determined that heritable variation in DNA plays a substantial role in the etiology of autism and autism spectrum disorders, yet traditional efforts to identify the genetic basis of this striking heritability have met with very limited success to date and have therefore provided limited insight into disease biology. We propose here an unprecedented partnership between expert large-scale sequencing centers (at the Baylor College of Medicine and the Broad Institute of MIT and Harvard) and a collaborative network of research labs focused on the genetics of autism (brought together by the Autism Genome Project and the Autism Consortium). These groups will work together to utilize dramatic new advances in DNA sequencing technology to reveal the genetic architecture of autism, first through a comprehensive examination of the exonic sequence of all genes (that is, the coding part of the genome). The goal is to conclusively identify which genes harbor individual or collections of rare DNA variants that predispose to autism, and thus translate the abstract heritability into solid biological clues about disease pathogenesis that can be studied molecularly and approached therapeutically. These efforts and their follow-up, which will be performed on thousands of autism families collected by the autism research groups and being provided with phenotype data to NIMH repositories, will form the cornerstone of autism genetic research going forward.
Project Design
- Number of exomes sequenced to date: 2000/2000
- Broad Production
- Baylor Production
- Samples
- Individuals to be sequenced can be found here : Link to NIMH IDs
- Sequencing Technology
- Target
- Description of Broad Exome Target (Agilent Sure Select)
- Description of Baylor Exome Target (Solid)
Meetings
Conferences
Collaborators
- Principle Investigators
- Baylor College of Medicine: Richard Gibbs(agibbs@bcm.edu)
- Broad Institute of MIT and Harvard: Mark Daly (mjdaly@broadinstitute.org)
- Mt. Sinai School of Medicine: Joseph Buxbaum (joseph.buxbaum@mssm.edu)
- University of Pennsylvania: Gerard Schellenberg (gerardsc@mail.med.upenn.edu)
- Vanderbilt University: James Sutcliffe (james.s.sutcliffe@vanderbilt.edu)
- University of Pittsburgh: Bernie Devlin (devlinbj@upmc.edu)
- Autism ARRA Team Members
Abstracts
About the MediaWiki
- Each collaborator can obtain an account to modify the wiki
- April Monchik (amonchik@broadinstitute.org) is the contact for receiving an account
- This area will be a sandbox for sharing work in progress
- Configuration settings list
- MediaWiki FAQ
- MediaWiki release mailing list
