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U Medical School Participates in Largest Autism Study Ever Conducted Using Technology Scanning the Human Genome

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, about 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 approximately 50 academic and research institutions, including the University of Utah School of Medicine, 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 1 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 neuropsychiatric 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 approximately four 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 GeneChipR 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 GeneChipR 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.