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Autism Speaks Names Stephen Scherer Director of AUT10K

World-renowned geneticist will oversee world’s largest database of autism genomes–advancing understanding and treatment of ASD subtypes
August 14, 2014

In addition to leading AUT10K, Dr. Scherer will continue as director of the Centre for Applied Genomics, at Toronto’s Hospital for Sick Children. Dr. Scherer also directs the University of Toronto’s McLaughlin Centre for genomic medicine.Autism Speaks has named world-renowned geneticist Stephen Scherer as director of its Ten Thousand Genomes Program (AUT10K). In this role, Dr. Scherer will provide leadership and oversee the development of the world’s largest database of genomic information on individuals with autism and their families.

Thomson-Reuters recently listed Dr. Scherer among its Most Highly Cited Scientists. He and his team have published more than 375 scientific papers advancing understanding of the role that genetic variation plays in disorders such as autism. A world pioneer in genetics and genomics, Dr. Scherer established the Database of Genomic Variants, the world’s first and most-used database of copy number variants (CNVs). Physicians and medical geneticists use this vital tool in making hundreds of thousands of medical diagnoses each year.

Recently, Dr. Scherer led a study, funded by Autism Speaks, that demonstrated how CNV testing can aid individualized diagnosis and treatment of autism subtypes. The study also added dozens of genes to the growing list of those known to contribute to the development of autism.

“We couldn’t be more excited to have Dr. Scherer and SickKids leading this game-changing program on behalf of Autism Speaks and our community,” says Autism Speaks Chief Science Officer Robert Ring. ““Dr. Scherer is a world-class geneticist and established leader in using genomic sequencing technology to improve our understanding of genetic risk underlying ASD and to demonstrate how genomic discovery can transform clinical practice.”

In June, Autism Speaks announced its collaboration with Google to store data from AUT10K on the Google Cloud Platform and establish an open-resource database to support autism research. Through it, scientists around the world will have access to the largest and most comprehensive collection of genomic information on autism.

Much of AUT10K’s sequencing efforts will focus on samples in the Autism Speaks Autism Genetic Resource Exchange (AGRE). With more than 12,000 registrants, AGRE is the largest private repository of publically available DNA samples paired with detailed, anonymous behavioral and medical information. For more than 15 years, AGRE has been a strategic resource for the autism research community.

"I am immensely excited because for the first time any scientist anywhere in the world will be able to bring their tools and analyses to the data in a ‘common cloud,’” Dr. Scherer says of the Autism Speaks-Google collaboration. “This paradigm shift in data access will bring uninhibited minds and both coherence and economy of scale that will surely fuel new discovery."

AUT10K focuses on genomic discoveries that will advance medical care and quality of life for individuals and families in the autism community. Its team has already completed the sequencing of 1,000 individuals and has close to 2,000 additional DNA samples in the process of being sequenced. With Dr. Scherer as the lead author, the results of the first 100 genomes appeared in the American Journal of Human Genetics last summer. These findings have already advanced understanding of ASD, and, in some cases, provided information useful in guiding diagnosis and treatment. As it moves toward completion, the AUT10K collaboration aims to identify various forms of autisms, with the potential to shape individualized treatments and therapies.

In 2014, targeted donor contributions to AUT10K have already totaled $5 million, including support from the Gordon & Llura Gund Foundation, Mel Karmazin Foundation and Allerton Foundation. Together with the AGRE collection, this represents most of the funding and resources needed to complete the full sequence of 10,000 genomes.

Dr. Scherer also oversees genome research funded by Steven Wise, chairman of the KRG Children’s Charitable Foundation as well as $5 million from Genome Canada and the province of Ontario and $2.5 million from the Canadian Institutes of Health Research. “Government support alongside the financial commitment of the public sector puts us within $25 million of our fundraising goal,” said Jill Farber, Executive Director of Autism Speaks Canada. “This is such promising research that will lead to more effective diagnosis and individualized treatment for individuals with ASD, and it’s happening right here in Canada.”