TORONTO, ONT. (January 26, 2015) - The largest-ever autism genome study, funded by Autism Speaks, reveals that the disorder's genetic underpinnings are even more complex than previously thought: Most siblings who have autism spectrum disorder (ASD) have different autism-linked genes.
Led by the director of the Autism Speaks MSSNG project (pronounced "missing"), the report made the cover of today's Nature Medicine.
Simultaneous with publication, the study's data became part of the historic first upload of approximately 1,000 autism genomes to the Autism Speaks MSSNG portal in Google Cloud Platform. Autism Speaks is making the de-identified data openly available for global research in order to speed understanding of autism and the development of individualized treatments.
"This is a historic day," says study leader Stephen Scherer, "as it marks the first time whole genome sequences for autism will be available for research on the MSSNG open-science database. This is an exemplar for a future when open-access genomics will lead to personalized treatments for many developmental and medical disorders." In addition to leading Autism Speaks' MSSNG program, Dr. Scherer directs the Centre for Applied Genomics at Toronto's Hospital for Sick Children and the McLaughlin Centre at the University of Toronto.
"By using the cloud to make data like this openly accessible to researchers around the world, we're breaking down barriers in a way never done before," says Robert Ring, chief science officer of Autism Speaks and co-author on the Nature Medicine paper. "As always, our goal at Autism Speaks is to accelerate scientific discovery that will ultimately improve the lives of individuals with autism at home and around the world."
In total, the MSSNG project aims to make at least 10,000 autism genomes available for research, along with a "tool box" of state-of-the-art tools to aide analysis.
Autism's Surprising Diversity
In the new study, Dr. Scherer's team sequenced 340 whole genomes from 85 families, each with two children affected by autism. The majority of siblings (69 percent) had little to no overlap in the gene variations known to contribute to autism. They found that the sibling pairs shared the same autism-associated gene changes less than one third of the time (31 percent).
The findings challenge long-held presumptions. Because autism often runs in families, experts had assumed that siblings with the disorder were inheriting the same autism-predisposing genes from their parents. It now appears this may not be true.
"We knew that there were many differences in autism, but our recent findings firmly nail that down," Dr. Scherer says. "We believe that each child with autism is like a snowflake - unique from the other."
"This means we should not be looking just for suspected autism-risk genes, as is typically done in diagnostic genetic testing," Dr. Scherer adds. "A full assessment of each individual's genome is needed to determine how to best use knowledge of genetic factors in personalized autism treatment." Whole genome sequencing goes far beyond traditional genetic testing to analyze an individual's complete DNA sequence.
Known autism-risk genes showed up in 42 percent of the families participating in the study. "This may help explain why autism came about in their child or provide insight into related medical conditions," Dr. Scherer says. In a 2013 pilot genome sequencing study, Dr. Scherer's team identified autism-linked genes in more than half of 32 participating families. That study provided several families with medically important information.
What we know about autism is not enough. MSSNG is the search for the missing answers. The historic collaboration between Autism Speaks and Google is harnessing the power of genomic technology to sequence the whole genomes of 10,000 individuals affected by autism and making this wealth of anonymous data available for global research in Google Cloud Platform. MSSNG promises to uncover the many subtypes of autism and lead to individualized treatments for autism and its associated medical conditions.
Autism is a general term used to describe a group of complex developmental brain disorders - autism spectrum disorders - caused by a combination of genes and environmental influences. These disorders are characterized, in varying degrees, by communication difficulties, social and behavioral challenges, and repetitive behaviors. An estimated 1 in 68 children in the U.S. is on the autism spectrum.
About Autism Speaks
Autism Speaks is the world's leading autism science and advocacy organization. It is dedicated to funding research into the causes, prevention, treatments and a cure for autism; increasing awareness of autism spectrum disorders; and advocating for the needs of individuals with autism and their families. Autism Speaks was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Mr. Wright is the former vice chairman of General Electric and chief executive officer of NBC and NBC Universal. Since its inception, Autism Speaks has committed more than $525 million to its mission, the majority in science and medical research. Each year Walk Now for Autism Speaks events are held in more than 100 cities across North America. On the global front, Autism Speaks has established partnerships in more than 60 countries on five continents to foster international research, services and awareness. To learn more about Autism Speaks, please visit AutismSpeaks.org.