In the video above, Stephen Scherer, director of Autism Speaks AUT10K Genome Program, discusses Autism Speaks' vital partnership with Google.
Autism Speaks and Google are collaborating to transform genomic research on autism spectrum disorder (ASD). Autism Speaks will use the Google Cloud Platform to address the challenges of managing, analyzing and disseminating the world’s largest library of genomic information on individuals with autism and their family members. This library is being established by the Autism Speaks Ten Thousand Genomes Program (AUT10K).
The collaboration promises to advance breakthroughs in the understanding, diagnosis, subtyping and personalized treatment of autism, says Autism Speaks Chief Science Officer Rob Ring.
"The AUT10K program holds the potential to radically transform our understanding of autism and redefine the future of medical care for those affected by the disorder,” he explains. “Working with Google is a game-changer in this story.”
The challenge of 10,000 genomes
As its name suggests, the AUT10K program aims to sequence the whole genomes of 10,000 individuals in families affected by autism around the world.
Thanks to thousands of participating families, Autism Speaks already manages the world’s largest private collection of autism-related DNA samples. Its Autism Genetic Resource Exchange (AGRE) has been a strategic resource for autism research for more than 15 years. Its gene data is deeply cross- referenced with anonymous behavioral and medical information.
However, the vastly larger amount of data collected by AUT10K creates unique challenges for storage, analysis and remote access. Previously, the transport of genomic information involved physically shipping hard drives. Downloading even one individual’s whole genome in a conventional manner could take hours, the equivalent of downloading a hundred feature films.
The cutting-edge capabilities of the Google Cloud can overcome these limits, Dr. Ring says. “Connecting biological discoveries with the best in large-scale cloud storage and computation will advance not only autism research but the entire field of genomic medicine,” he says.
“Modern biology has become a data-limited science,” adds David Glazer, engineering director for Google Genomics. “Modern computing can remove those limits. We are excited to be working with the Autism Speaks team on storage, processing, exploration, and sharing of the AUT10K data. We’re even more excited about the opportunity for Google Cloud Platform to help unlock causes and treatments of autism.”
Most significantly, the AUT10K database will be an open resource to support autism research around the world.
A new global resource for autism research
Building on AGRE, Autism Speaks launched the AUT10K program in collaboration with the Centre for Applied Genomics at Toronto’s Hospital for Sick Children. Centre Director Steve Scherer, a world pioneer in autism genetics, has become AUT10K’s director.
“The collaboration between a pioneering tech company and the foremost autism science organization has the potential to transform the autism research landscape in exceptional ways,” Dr. Scherer says. “No other organization outside of major health institutions and academia has accomplished this much this quickly.”
Delivering real-life benefits today
AUT10K has already enabled discoveries that have direct implications for medical care and quality of life for individuals and families in the autism community.
Results from the first 100 genomes were published in the American Journal of Human Genetics last summer. These findings have advanced understanding of ASD and in some cases provided information useful in guiding diagnosis and treatment. Once completed, this historic collaboration could lead to the identification of various subtypes of autism and their individualized treatment – much as is done with cancer treatment today.
Aut10K has already completed the sequencing of 1,000 cases and has close to 2,000 additional samples in the queue. The majority come from families in the AGRE program.
“This announcement represents an unprecedented intersection of business, science and philanthropy that will drastically accelerate the pace of autism research,” concludes Autism Speaks Co-founder Bob Wright. “The insight and expertise the Google team brings to the table is unmatched.”
Support from leading philanthropists
In 2014, major contributions to the Autism Speaks AUT10K program totaled $5 million, including support from the Gordon & Llura Gund Foundation, Mel Karmazin Foundation and Allerton Foundation. In addition, Dr. Scherer oversees $10 million in funding for genomic research, including contributions from Steven Wise, chair of the KRG Children Charitable Foundation and $7.5 million from the Canadian federal government and the province of Ontario.
“This is the most promising autism research ever done and for those living with ASD,” says Autism Speaks President Liz Feld. “It will make a significant difference in the development of effective forms of diagnosis and treatment.”
Meet Dr. Scherer and learn more about Autism Speaks' AUT10K program in the video clips below.
* Autism Research at the Intersection of Genomic Discovery and Big Data, a blog by Autism Speaks Chief Science Officer Robert Ring
* Whole Genome Sequencing Advances Autism Diagnosis and Personalized Care
* Discover Ranks Autism Speaks’ Genome Project among Top Stories of 2013