TORONTO and NEW YORK (June 25, 2018) ⎯ DNAstack, a software company that develops a cloud-based platform to manage, analyze and search genomic datasets, and Autism Speaks announced today a collaboration to enhance the Autism Speaks MSSNG research portal, designed to facilitate research to understand the complexities of autism spectrum disorder. Through this collaboration, DNAstack will organize one of the largest collections of autism genomes in the world, making them more accessible and analyzable, accelerating the pace at which researchers can use the resource to make discoveries.
The Autism Speaks MSSNG project will help researchers answer the many remaining questions about the genetic underpinnings of autism by sequencing the DNA of more than 10,000 families affected by autism. The omitted letters in MSSNG (pronounced "missing") represent the missing information about autism that the research program seeks to deliver. Through the MSSNG Database for Autism Researchers, the project provides open access to de-identified whole genome sequences as well as tools for analysis, with the aim of advancing personalized treatments by deepening understanding of the many subtypes that make up the autism spectrum.
“Sharing data in the MSSNG database and making it easy for researchers to analyze is crucial to our goal of understanding autism and accelerating discoveries,” said Dr. Dean Hartley, Autism Speaks senior director of discovery and translational science. “We are excited about how our relationship with DNAstack will help us move the needle on open science. Their technology will bring this resource to a new level by empowering researchers to more efficiently investigate genomic data.” Dr. Hartley adds that this collaboration will also increase accessibility by building on global standards developed through the Global Alliance for Genomics and Health (GA4GH).
Despite decades of research, there is much more to be done to understand the genetic variations that lead to differences on the spectrum, and to develop more personalized and effective treatments and support services. Working with Autism Speaks, DNAstack will build new features that will make it easier than ever before for autism researchers to use the data within the MSSNG resource, including:
A data discovery portal that allows researchers to find datasets of interest based on genomics and clinical features, and create custom collection;
A bioinformatics workflow integration allowing researchers to run custom and best-in-class analyses in order to, for example, find new variants or do case/control studies;
A data-sharing beacon enabling researchers worldwide to identify autism-specific information
about genomic variants of interest.
“The genetics of autism is complex, but we’ve made great progress because the research community can access genomic information,” said Dr. Stephen Scherer, research director of MSSNG, and director of the Centre for Applied Genomics at Toronto’s Hospital for Sick Children (SickKids) and the McLaughlin Centre at the University of Toronto. “MSSNG is a powerful resource to identify new subtypes of autism and study their underlying genetics and biology. Enhancing research capabilities and improving collaboration will further advance scientific discovery in autism.”
To date, research using the MSSNG genomic database has identified 61 genetic variations, and additional chromosome alterations that affect autism risk, which could lead to earlier diagnosis and potential personalized treatments for the condition and its associated physical and mental health conditions. Over 140 investigators from 40 institutions in eight countries worldwide are using data in the MSSNG database, which contains more than 7,200 whole genome sequences from individuals with autism, as well as unaffected family members, to draw comparisons.
“We believe that sharing data is one of the most important things we can do to accelerate discovery and the realization of precision medicine, not just in autism but in other conditions as well,” said Dr. Marc Fiume, CEO of DNAstack and co-chair of the Discovery Work Stream for the GA4GH. “By sharing data on the cloud, MSSNG has set an important precedent in open science. DNAstack is excited to help further Autism Speaks' mission in making this resource even more accessible to the research community and impactful than ever before.”
DNAstack develops a cloud-based platform for genomics data analysis and sharing. DNAstack provides push-button access to state-of-the-art technologies to help researchers, clinical laboratories, and pharmaceutical companies more quickly and cost-effectively make sense of the world’s exponentially accumulating genomics data and break down barriers to data sharing.
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 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.
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, go to www.AutismSpeaks.org.