autism genome project

Launched in 2004, the Autism Genome Project, or AGP, is the largest study ever conducted to find the genes associated with inherited risk for autism. Many of the world's leading genetics researchers pooled their resources and used 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 project is a public/private research partnership involving approximately 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 first phase of the project, a research partnership with the National Institutes of Health, consist ed of two scans of the human genome searching for autism susceptibility genes. The scans analyzed DNA samples from nearly 1, 200 families.

Phase 2 will expand on the results of the first phase and allow researchers to confirm or deny the role of genes previously identified as possibly harboring autism susceptibility genes.

reliminary Results of the Autism Genome Project Published in Nature Genetics  NEW YORK, NY (February 18, 2007) -- Autism Speaks , a non-profit organization dedicated to increasing awareness of autism and raising money to fund autism research, together with an international consortium of researchers and participating families, today announced the publication of the preliminary results from the largest-ever autism genome scan in Nature Genetics, one of the world's most prestigious research publications.

This research was performed by over 120 scientists from more than 50 institutions representing 19 countries who formed a first-of-its-kind autism genetics consortium, the Autism Genome Project (AGP). The AGP began in 2002 when researchers from around the world decided to come together and share their samples, data, and expertise to facilitate the identification of autism susceptibility genes. The first phase of the effort, the assembly of the largest autism DNA collection ever and whole genome linkage scan, was funded by Autism Speaks and the U.S. National Institutes of Health. The launch of phase two of the project, building on the success of the linkage scan, is being announced in ten days.

The consortium leveraged the unprecedented statistical power generated by its unique sample set by using “gene chip” technology to look for genetic commonality in autistic individuals culled from almost 1,200 families. One third of the DNA and clinical data was provided by the Autism Genetic Resource Exchange (AGRE). The AGP also scanned DNA from these families for copy number variations (CNV), or sub-microscopic genomic insertions and deletions that scientists believe might be involved with this and other common diseases. The innovative combination of these two approaches implicates a previously unidentified region of chromosome 11, and neurexin 1, a member of a family of genes believed to be important in neuronal contact and communication, among other regions and genes in the genome. The neurexin finding in particular highlights a special group of neurons, called glutamate neurons, and the genes affecting their development and function, suggesting they play a critical role in autism spectrum disorders.

“By combining cutting edge CNV analysis with the more traditional linkage and association [analyses], the scientists now have a promising new experimental framework to look for autism susceptibility genes,” said Andy Shih, Autism Speaks chief science officer. “These exciting findings from the AGP linkage scan confirm the value and contribution of multidisciplinary collaboration to advancing autism research.”

The AGP Consortium believes the identification of susceptibility genes will provide profound new insight into the basis of autism offering a route to breakthroughs in diagnosis and new treatments in support of families.

Phase 2 of the project represents a 14.5 million dollar investment over three years, by Autism Speaks, the British Medical Research Council, the Health Research Board of Ireland, Genome Canada and partners, Canadian Institutes for Health Research, Southwest Autism Research and Resource Center, and the Hilibrand Foundation. This unique combination of international, public and private partners funding a consortium of clinicians and scientists is unprecedented in the field of autism research. The project is also guided by 7 luminaries in the field, forming a strategic Scientific Steering Committee chaired by Professor Peter McGuffin of the Institute of Psychiatry, King's College London.

Building on previous success, the coalition of researchers will now apply state-of-art 'gene-chip' technologies to scan the genome for association with new genetic markers, as well as sub-microscopic copy number variations (CNVs) along chromosomes in autism. These findings will guide high-throughput DNA sequencing experiments designed to pinpoint underlying changes in DNA sequences in autism susceptibility genes. The unprecedented statistical power generated by the AGP will ultimately allow researchers to confirm the role of these genes, in autism spectrum disorders.

“The integration of CNV analysis with the more traditional linkage and association approaches is an innovative and potent combination,” said Andy Shih, Autism Speaks chief science officer. “Some of the data will have immediate diagnostic impact, and going forward our new understanding of genetic contributors in autism will give direction to the development of targeted treatment and intervention.”

“The identification of susceptibility genes will provide profound new insight into the basis of autism offering a route to breakthroughs in new treatments in support of families,” said Autism Speaks co-founder and board chair, Bob Wright.

The NAAR Autism Genome Project is Using DNA Array Technology to Scan the Human Genome & Includes 1,500 Families in the Search for the Genes Associated with the Disorder

July 19, 2004 

The National Alliance for Autism Research 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 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 the largest research project to focus on genes.

NAAR Autism Genome Project- Fact Sheet

NAAR Autism Genome Project- Frequently Asked Questions

NAAR Autism Genome Project- Research Consortiums

NAAR Autism Genome Project - DNA Microarray Technology

NAAR Autism Genome Project - About SNPs

The NAAR Autism Genome Project is a public/private research partnership involving approximately 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.

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 the U.S., Canada and Europe. The large sample size makes the NAAR Autism Genome Project'sscan approximately three times larger than the largest previous autism genome studies. The DNA micro array scan will cost $2 million and is being funded by NAAR.

“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 Projectis 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 Translational Genomics 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 from 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 Projectalso 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 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 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 a cure.

Recent studies by the U.S. Centers for Disease Control & Prevention suggest that the prevalence of autism spectrum disorders has 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.

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.

More info:- www.autismgenome.org