Uncovering the genetic predispositions to autism is one of the quickest ways to reveal the biochemical pathways that are disrupted. This information will lead us to biomedical treatments. The issue is when.
Cure Autism Now has lead the charge to understand the genetic susceptibility to autism by aggressive and focused grant making and contract work which has included fine mapping, SNP mapping, micro array work, sponsorship of genetics meetings and workgroups, and the continued development and expansion of a central data repository for genomics information.
In an effort to facilitate the progress of discovery, Cure Autism Now founded and funds the Autism Genetic Resource Exchange (AGRE), an open biomaterials bank with a large collection of immortalized cell lines and DNA samples from families with more than one child with autism. These samples and the accompanying clinical data are available to the entire scientific community.
The establishment of the AGRE database has created an invaluable resource for the scientific community. When AGRE began, six researchers were studying the genetics of autism – today there are several hundred. Nearly 200 researchers have access to AGRE for their research.
In 2006 the Autism Genetic Resource Exchange made the DNA samples of over 700 multiplex families available for study to all scientists and pharmaceuticals, thus making it the largest, private, open source autism collection in the world.
Identifying Autism Gene(s) on Chromosome 17q
The most recent project in the Genomics Initiative was a 2005 grant to a team of researchers at UCLA, led by Dan Geschwind, M.D., Ph.D., Stan Nelson, Ph.D., and Rita Cantor, Ph.D. The team of scientists has been working to identify autism genes by dividing subjects into subsets using a variety of autism related endophenotypes, including language characteristics, social behavior and gender. The work on gender has been driven by the observation that males are affected 4 times more frequently than females.
The researchers reasoned that this might mean that males have different genetic risk factors than females.
Using the AGRE collection, they have identified and confirmed a locus on chromosome 17q that contributes to autism in families where autism occurs primarily in males. Since this is the first confirmed autism locus discovered through a whole genome scan, it offers a unique and exciting opportunity to identify a gene that contributes to the risk of developing autism.
The results of this CAN/UCLA research project was named among the top 100 science stories of the year in the January 2006 edition of Discover magazine! The Genomics Initiative award will allow the team to test which of the many genes along Chromosome 17q may contribute to autism susceptibility.
To read the full story in our spring 2006 Advances, click here.