Toronto, Ontario (August 14, 2014) – Autism Speaks, the world’s leading autism science and advocacy organization, has named renowned Canadian geneticist Stephen Scherer, Ph.D., D.Sc., FRSC, as director of the Autism Speaks Ten Thousand Genomes Program (AUT10K), a collaborative to develop the world’s largest database of complete genomic information on individuals with autism spectrum disorder (ASD) and their family members.
In this new role, Dr. Scherer and his team will represent Autism Speaks in providing leadership for, and overseeing the development of, the world’s largest database of genomic information on individuals with autism and their families. In addition to leading AUT10K, Dr. Scherer will continue in his role as Director of The Centre for Applied Genomics at The Hospital for Sick Children (SickKids) in Toronto. Dr. Scherer will also continue serving as director of the McLaughlin Centre at the University of Toronto, which focuses on advancing genomic medicine through research and education.
Dr. Scherer and his group have made several discoveries, which have been documented in over 375 publications cited over 30,000 times placing him on the recently released Thomson-Reuters list of the world’s Most Highly Cited Scientists. His research has been integral in understanding the role that human genetic variation plays in disorders such as autism. A global pioneer in the study of genes, he established the Database of Genomic Variants, the world’s first and most utilized copy number variation database, which has already facilitated hundreds of thousands of clinical diagnoses each year.
Additionally, Dr. Scherer was senior author of the recently published study in the American Journal of Human Genetics from investigators with the Autism Genome Project, an international collaboration identifying genes associated with risk for autism. In this study, also funded by Autism Speaks, Dr. Scherer’s team found that the comprehensive use of CNV genetic testing offers an important tool in 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.
“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 how genomic discovery can be used to transform clinical practice.” said Robert Ring, PhD, chief science officer for Autism Speaks. “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.”
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 this database, scientists around the world will have access to the largest and most comprehensive collection of genomic information on autism in the world. Much of the sequencing efforts of AUT10K will focus on samples already available publically through the Autism Speaks’ Autism Genetic Resource Exchange (AGRE). With over 12,000 individuals, AGRE represents the largest private repository of publically available DNA samples and clinical data such as diagnoses and detailed phenotyping in the world and has been a strategic resource for the autism research community for over 15 years.
"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" instead of the other way around,” said Dr. Scherer. “This paradigm shift in data access will bring uninhibited minds and both coherence and economy of scale that will surely fuel new discovery."
Dr. Scherer oversees $10 million in funding for genome sequencing research, including contributions from 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. Additionally, in 2014, leadership contributions to AUT10K have totaled $5 million, including support from the Gordon & Llura Gund Foundation, Mel Karmazin Foundation and Allerton Foundation.
“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 is happening right here in Canada.”
AUT10K is enabling discoveries in ASD genomics research in ways that will have real-life impact on medical care and quality of life for individuals and families in the autism community. AUT10K has already completed the sequencing of 1,000 cases, and currently has close to 2,000 additional samples currently advancing through the program’s sequencing queue. Led by Dr. Scherer, results of the first 100 genomes were published 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. Upon completion, this historic collaboration could lead to the uncovering of various forms of autisms, with the potential to shape individualized treatments and therapies for those with ASD.
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 behavioural challenges, and repetitive behaviours. 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 $500 million dollars 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 40 countries on five continents to foster international research, services and awareness. To learn more about Autism Speaks, please visit AutismSpeaks.org.
About Autism Speaks Canada
Autism Speaks is the world’s leading autism science and advocacy organization. Since its inception, Autism Speaks and Autism Speaks Canada have invested over $6 million in Canadian autism research; building the capacity for services across the country; raising public awareness; collaborating with other organizations to advocate alongside the autism community. Autism Speaks Canada is committed to raising the funds necessary to improve lives today and transform lives tomorrow across the autism spectrum and lifespan. Our Walk Now for Autism Speaks events, family services grants and Light It Up Blue campaign are examples of Autism Speaks Canada’s annual programs. To learn more about Autism Speaks Canada, please visit www.autismspeaks.ca or call the toll free number at 1-888-362-6227.