Preliminary 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.
Autism is a complex brain disorder that inhibits a person’s ability to communicate and develop social relationships, and is often accompanied by extreme behavioral challenges. Autism spectrum disorders are diagnosed in one in 150 children in the United States, affecting four times as many boys as girls. The diagnosis of autism has increased tenfold in the last decade. The Centers for Disease Control and Prevention have called autism a national public health crisis whose cause and cure remain unknown.
ABOUT AUTISM SPEAKS
Autism Speaks is dedicated to increasing awareness of autism spectrum disorders, to funding research into the causes, prevention, treatments and cure for autism, and to advocating for the needs of affected families. It was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Vice Chairman, General Electric, and served as chief executive officer of NBC for more than twenty years. Autism Speaks has merged with both the National Alliance for Autism Research (NAAR) and Cure Autism Now (CAN), bringing together the nation’s three leading autism advocacy organizations. To learn more about Autism Speaks, please visit www.autismspeaks.org. Autism Speaks UK is chaired by Dame Stephanie Shirley and works closely with the U.S. on research and awareness issues. To learn more about Autism Speaks UK, please visit www.autismspeaks.org.uk.