Archived | NAAR Autism Genome Project: Frequently Asked Questions | Circa July 2004 #NotAnAutisticAllly

NAAR Autism Genome Project: Frequently Asked Questions

What is the NAAR Autism Genome Project?

The NAAR Autism Genome Project is a large-scale, collaborative genetics research project designed to map the human genome in the search for autism susceptibility genes – the genes responsible for the inherited risk for autism. This unprecedented endeavor is the largest research collaboration ever to focus on the genetics of autism and includes approximately 170 of the world’s leading genetic researchers from 50 academic and research institutions throughout the United States, Canada and Europe. The project approximately 1,500 multiplex families (two children with autism spectrum disorders and their parents) from all over the world who are directly affected by autism spectrum disorders.


While autism was first identified more than 50 years ago, the disorder remains a medical mystery because the tools necessary to learn more about the genetics of autism simply did not exist. With the development of promising new technology and 6,000 genetic samples, the research “Dream Team” of the NAAR Autism Genome Project hopes to reveal genetic information about autism that was previously undetectable. Using the data that they find, scientists will identify those genes that demonstrate a likelihood of being linked to autism. These discoveries will ultimately allow he medical research community to develop medical treatments for those affected by the disorder on a case by case basis.

This project required unprecedented collaboration between eh top autism researchers in North America and Europe. It is a credit to all the research organizations involved and also to NAAR’s vision and coordination of efforts that this is now possible.

How will this study be conducted?

  • In mid-July 2004, 6,000 genetic samples (four from each family) will be taken from 1,500 multiplex families that have two children with autism spectrum disorders and sent to the Translational Genomics Research Institute (TGen) for genotyping.
  • TGen will genotype each patient sample using Affymetrix GeneChip Mapping 10k Array, yielding over 10,000 genome-wide SNPs per patient
  • The Affymetrix Mapping 10k Array will allow researchers to examine mutations in a person’s DNA in finer detail that was previously possible.
  • In early fall, the SNPs will be analyzed by NAAR associated investigators
  • Further studies will be conducted to identify related genes on a base by base level
  • Ultimately, researchers hope to develop a diagnostic tool, followed by knowledge-based drug development.

Why couldn’t this be done before? …

Explore Autistic History

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