Autism Speaks’ MSSNG project reaches 10,000-genome milestone
World’s largest autism whole-genome database a beacon to developing new solutions for individuals with autism and their families
May 6, 2019
NEW YORK (May 6, 2019) – Autism Speaks’ groundbreaking MSSNG project has reached its initial goal of sequencing more than 10,000 whole genomes of individuals with autism and their family members in the latest update to its signature genetics program, creating the world’s largest open-source precision medicine database specific to understanding autism.
“Having 10,000 whole-genome sequences on one free, open-source platform gives researchers with diverse questions from around the world a powerful resource to better understand the genetics of autism and how they relate to each person’s unique strengths and challenges,” said Thomas Frazier, Ph.D., chief science officer for Autism Speaks. “MSSNG is central to our goal to rapidly develop ways to personalize care for people with autism.”
The 10,000-genome dataset, which continues to grow, goes live in June 2019 in an advanced database, a critical milestone in ensuring that more genetic variations – and more types of autism – are represented in research analysis and results.
“We know there are many subtypes of autism. The more data we include related to different types of autism in each research study, the more inclusive the results will be, fueling a flow of discoveries,” said Stephen Scherer, Ph.D., MSSNG research director. Dr. Scherer directs the Centre for Applied Genomics at The Hospital for Sick Children (SickKids) in Toronto, where the genome sequencing is conducted.
Launched in 2015, the MSSNG database started as a collaboration with SickKids and Google. To date, MSSNG’s cloud-based computing system is freely sharing data globally in 58 institutions across 16 countries producing transformational autism research studies. This has included 18 newly identified autism risk genes that include de novo mutations, as well as changes in non-gene encoding regions.
Autism Speaks and SickKids are joined by critical partners Verily and DNAstack, which are both leaders in genomics engineering. Their contributions of cutting-edge technology and resources make MSSNG one of the most advanced autism genetic databases.
“MSSNG's rich data, powerful software and broad researcher access help close gaps in the world's understanding of autism," said David Glazer, engineering director at Verily. “Sequencing 10,000 genomes from affected families is an exciting milestone in our efforts to collect, organize and activate health information.”
Technological features from these firms align MSSNG data to global standards, allowing researchers to access multiple large datasets from one interface and give deeper insight into the underpinnings of autism. These features promote responsible open science that can accelerate discoveries to find information and solutions for individuals and families seeking help.
“Sharing data is one of the best ways to accelerate our understanding of genetically complex disorders like autism,” said Dr. Marc Fiume, CEO of DNAstack and co-chair of the Discovery Work Stream for the GA4GH. “MSSNG is pioneering new methods in open science that will make data more findable, accessible and useful. MSSNG will have an enormous impact on open science, far beyond autism, for years to come.”
With this update, MSSNG also will join the Beacon Network, a global search engine for finding genetic variations, allowing autism researchers to easily find similar data. Just as critical, the MSSNG beacon will allow scientists from other disciplines to find similar data they are studying, thus bringing new researchers and insights into the autism field.
Autism Speaks co-founded Autism Sharing Initiative (ASI) to catalyze worldwide sharing of data in autism, and the ASI was recently selected as a Driver Project of the Global Alliance for Genomics and Health (GA4GH).
“ASI encourages research institutions to build technological and sociological bridges to other whole-genome autism datasets. Data sharing helps accelerate discovery,” said Dean Hartley, senior director of genomic discovery at Autism Speaks and a co-lead of the ASI project.
The MSSNG project is made possible by the ongoing support of individual donors and foundations, whose generosity has been a catalyst for achieving a greater understanding of autism. In particular, the visionary leadership of the Board of Autism Speaks, particularly founder Bob Wright, led to the organization's historic investment in MSSNG. Private philanthropy via Autism Speaks has funded nearly $16 million in the MSSNG Genomic Initiative.
Autism, or autism spectrum disorder, refers to a broad range of conditions characterized by challenges with social skills, repetitive behaviors, speech and nonverbal communication. We now know that there is not one autism but many subtypes, and each person with autism can have unique strengths and challenges. A combination of genetic and environmental factors may influence the development of autism, and autism often is accompanied by medical issues such as GI disorders, seizures and sleep disturbances. Autism affects an estimated 1 in 59 children.
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About Autism Speaks
Autism Speaks is dedicated to promoting solutions, across the spectrum and throughout the life span, for the needs of individuals with autism and their families. We do this through advocacy and support; increasing understanding and acceptance of people with autism spectrum disorder; and advancing research into causes and better interventions for autism spectrum disorder and related conditions. To find resources, join a fundraising walk or make a donation, visit www.AutismSpeaks.org.