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News 2017

World's largest autism genome databank adds more than 2,000 sequences

The Autism Speaks MSSNG program marks another milestone toward its goal of 10,000 fully sequenced human genomes for autism research

October 20, 2017

Today, the Autism Speaks MSSNG team announced the upload of an additional 2,030 fully sequenced genomes to the project's cloud-based databank - making it the world's largest whole genome resource for autism research, with more than 7,000 genomes from individuals affected by autism and their family members.

"To provide guidance on personalized care to people with autism, it's important to fully understand what genetic form of autism each person has," says MSSNG research director Stephen Scherer. "To accomplish this, we need to perform whole genome sequencing on a large and diverse group of participants and provide this information to the research community in an accessible form." Dr. Scherer also directs The Centre for Applied Genomics at the Hospital for Sick Children (SickKids), in Toronto.

MSSNG team member Susan Walker, also of The Centre for Applied Genomics, made the announcement as part of her presentation on the Autism Speaks MSSNG program, at the annual meeting of the American Society for Human Genetics, in Orlando, Florida. She also described how the team is adding to the behavioral and medical information associated with each privacy-protected genome. These additional measures include developmental milestones, social abilities, language, sleep issues and anxiety, to name just a few.

MSSNG's mission is to advance the development of personalized treatments and supports for people with autism based on deeper understanding of the gene variations that influence the condition's symptoms and associated medical conditions.

Autism Speaks makes MSSNG resources freely available to qualified researchers worldwide, together with a powerful tool kit of online analytic tools. It is also developing a lay-friendly community web portal where participating individuals and families can access meaningful information about their genomes, as well as connect with individuals and families with genetic similarities if they so desire.

"We are thrilled that more than 100 scientists around the world are already using MSSNG resources to identify new subtypes of autism and study their underlying genetics and biology," says Autism Speaks Chief Science Officer Tom Frazier. "This is the crucial research we need to address the highly individual needs of each person on the autism spectrum."

MSSNG is a collaboration between Toronto's Hospital for Sick Children, Autism Speaks and Verily (formerly Google Life Sciences), which hosts the MSSNG database on its cloud platform.