Diagnostic Developments
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on for autism genes
The US National Alliance for Autism Research (NAAR) has launched the NAAR Autism Genome Project - the largest study ever conducted to find the genes associated with inherited risk for autism. Over the next 6 months, this multinational project* will see over 170 genetics researchers pool their DNA samples in a collaborative effort to scan the human genome in the search for the genetic causes of this disorder. The project's aim is to enable doctors to biologically diagnose autism and to enable researchers to develop medical treatments. The NAAR expects initial results from the DNA array scan by early 2005. The first phase of the project, a research partnership between NAAR and the US National Institutes of Health (NIH), consists of two scans of the human genome searching for autism susceptibility genes. The scans will analyze approximately 6000 samples of DNA from 1500 multiplex families (two children with autism spectrum disorders and their parents) from all over the world. The large sample size makes the genome scan around 3-fold larger than the largest previous autism genome studies. For phase one of the project, which is c:urrently under way, the NAAR has contracted with Affymetrix, which pioneered DNA array tedmology and is supplying hardware and equipment for the scan. Translational Genomics Research Institute, a non-profit research center, is responsible for performing the scan itself. Affymetrix'
( What is autism?
GeneChip® DNA array technology combines biotechnology with computer chip, or semiconductor, technology, to allow researchers to quickly scan an individual's entire genome for over 10 000 mutations that will help researchers isolate the genetic causes of autism. This project is one of the first times that DNA array technology is being used on such a large scale in the search for genes associated with disease. Scientists suspect that autism is caused by many genes, and perhaps also by environmental factors. Research has been limited in part because, until now, there has been no tedmology that could effectively search autism patients' DNA in fine detail for mutations they have in common. Traditionally, isolating the DNA mutations that are common in a disease is the first step toward finding the genetic causes. The project also includes a second genome scan based on microsatellite technology that will be conducted by the Center for Inherited Disease Research (CIDR), a genotyping core facility affiliated with the National Human Genome Research Institute and supported by the Nlli. Once the first phase is complete, researchers will conduct fine mapping of the chromosomal intervals identified by both genome scans, followed by further examination of genetic mutations that are designed to lead to the identification of susceptibility genes. •
The project involves researchers from over 50 academic and research institutions throughout the US, Canada, the UK, France, Sweden, Denmark and Germany.
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Autism is a complex brain disorder that often inhibits a person's ability to communicate, r
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