Largest Autism Study

Largest Autism Study Ever Conducted Using DNA Array Technology
NAAR Autism Genome Project Includes DNA Samples from 1,500 Families Throughout Europe and North America in the Search for Genes Associated with the Disorder

July 19, 2004

The National Alliance for Autism Research (NAAR) today announced the launch of the NAAR Autism Genome Project, the largest study ever conducted to find the genes associated with inherited risk for autism. Over the next six months, more than 170 of the world's leading genetics researchers will pool their resources and use a promising new technology, the DNA microarray, to scan the human genome in the search for the genetic causes of this devastating disorder, which continue to elude the medical field as prevalence rises. The NAAR Autism Genome Project is a public/private research partnership involving over 50 academic and research institutions that have pooled their DNA samples in a collaborative effort. It is designed to enable doctors to biologically diagnose autism and enable researchers to develop universal medical treatments and a cure. The NAAR Autism Genome Project expects initial results from the DNA array scan by early 2005. Autism is a complex brain disorder that often inhibits a person's ability to communicate, respond to surroundings or form relationships with others. More than one million Americans are living with some form of autism. Most people with autism spectrum disorders require lifelong supervision and care, and the most severely affected will never be able to speak. Autism is largely considered the most heritable of neurological disorders, however the causes of autism are not known and there are no ways to biologically diagnose the disorder. Also, there are no specific medical treatments for autism or cure.

Recent studies by the U.S. Centers for Disease Control & Prevention suggest that the prevalence of autism spectrum disorders have significantly increased, from one in 10,000 in the early 1990s to as many as one in every 166 births today. Some studies place the prevalence even higher.

The first phase of the NAAR Autism Genome Project, a research partnership between NAAR and the National Institutes of Health (NIH), consists of two scans of the human genome searching for autism susceptibility genes. The scans will analyze approximately 6,000 samples of DNA from 1,500 multiplex families (two children with autism spectrum disorders and their parents) from all over the world. The large sample size makes the NAAR Autism Genome Project's scan approximately three times larger than the largest previous autism genome studies.

"We are very excited about combining scientific expertise with this cutting-edge technology to help uncover the genetic underpinnings of autism and determine what causes the disorder," said Prisca Chen Marvin, chair of the NAAR Board of Trustees and the parent of a child with autism. "Understanding the cause is paramount to our ability to biologically diagnose autism, develop medical treatments that help children and adults effectively manage the disorder and find a cure. That is what the NAAR Autism Genome Project is all about."

For phase one of the project, which is currently under way, NAAR has contracted with Affymetrix, Inc., of Santa Clara, CA, which pioneered and invented DNA array technology and is supplying hardware and equipment for the scan. The Phoenix-based Translational Genomics Research Institute, a non-profit research center, is responsible for performing the scan itself.

Affymetrix GeneChip® DNA array technology uses synthesized DNA on a glass chip to enable scientists to examine the genome on a much finer level and generate results much faster than using older technologies. 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 technology that could effectively search autism patients' DNA, which contains more than 30,000 genes, 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.

Affymetrix's new 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.

"Affymetrix is excited and honored to be chosen by NAAR as the platform of choice for this landmark study," said Affymetrix Chairman and Chief Executive Officer, Stephen P.A. Fodor, Ph.D. "Our scientists have worked diligently over the last few years to develop the genetic tools precisely for this type of study. Parent-driven organizations like NAAR are focused on discovering new information that will positively impact their children's lives, and we believe that this study will allow them to achieve their goals quickly."

The NAAR Autism Genome Project illustrates how collaborations can create the statistical power needed to work on complex diseases.

"This project represents both the power of collaboration and the power of genomic science on a grand scale," said Dietrich A. Stephan, Ph.D., director of Neurogenomics at TGen and the scientist leading the chip-based genome scan. "Patients, researchers and doctors from around the world have banded together to begin to crack the mystery of what causes autism. This unified effort ushers in a new paradigm in autism research."

The project is bringing renewed hope to parents of children with autism, excited by the recent convergence of new technologies and a united effort of the research community.

"As a parent of a child with autism, it is incredibly encouraging to see so many researchers come together to confront a devastating disorder that affects millions of families around the world and continues to baffle scientists," said NAAR Trustee Deborah Hilibrand, whose family foundation has pledged $1 million towards the NAAR Autism Genome Project. "Now is the time that we can harness the latest technologies and fast-track our research efforts with the support of the National Institutes of Health and other organizations."

The NAAR Autism Genome Project also includes a second 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 NIH.

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.

Autism is typically diagnosed by the age of two or three and considered a spectrum disorder because symptoms and severity vary from individual to individual. According to a poll conducted by NAAR last year, a majority of Americans believe that autism research should be awarded a much higher priority and want both the government and the private sector to increase research funding to develop better methods to diagnose and treat autism and to find a cure for the disorder.

About NAAR
Established in 1994, the National Alliance for Autism Research (NAAR) is the first non-profit organization in the country dedicated to funding and accelerating biomedical research for autism spectrum disorders. The organization was established by parents of children with autism concerned about the limited amount of funding for autism research. To date, NAAR has committed $21.1 million in grants for biomedical research projects worldwide that seek to find the causes, prevention, effective treatments and, ultimately, cure for autism spectrum disorders - more than any other non-governmental entity. Walk F.A.R. for NAAR is the organization's signature fundraising and autism awareness event, which is held annually in numerous communities across the United States. Additionally, NAAR was instrumental in establishing the Autism Tissue Program, a parent-led brain tissue donation program for autism research. NAAR's national office is located at 99 Wall Street, Research Park, Princeton, NJ 08540.

About Affymetrix
Affymetrix is a pioneer in creating breakthrough tools that are driving the genomic revolution. By applying the principles of semiconductor technology to the life sciences, Affymetrix develops and commercializes systems that enable scientists to improve quality of life. The Company's customers include pharmaceutical, biotechnology, agrichemical, diagnostics and consumer products companies as well as academic, government and other non-profit research institutes. Affymetrix offers an expanding portfolio of integrated products and services, including its integrated GeneChip brand platform, to address growing markets focused on understanding the relationship between genes and human health. Additional information on Affymetrix can be found at

About TGen
Established in 2002, TGen is a not-for-profit research institute whose primary mission is to make and translate genomic discoveries into advances in human health. Translational genomics research is a relatively new field employing innovative advances arising from the Human Genome Project to apply to the development of diagnostics, prognostics and therapies for cancer, neurological disorders, diabetes and other complex diseases. For additional information on this project, as well as other research initiatives focused on autism, please visit the TGen web site at and view the News page.

Joe Guzzardo (609) 430-9160, ext. 17
National Alliance for Autism Research

Wes Conard (408) 731-5791
Affymetrix, Inc.

Galen Perry (602) 343-8423

Media Contact

RSS Feed