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    • Autism Speaks Canada's statement about the Alek Minassian case and its misrepresentation of autism
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    • SickKids researchers find new genes and variations linked to autism using Autism Speaks' MSSNG data
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    • Covid-19, We Are in This Together
    • Advocates and researchers discuss solutions to reduce autism health care disparities
    • Justin Trudeau Announces Endorsement for Development of a National Autism Strategy
    • Join Us in Creating a Brighter Life on the Spectrum
    • Media Advisory: Trudeau Is Only Major Party Leader Not Committed To A National Autism Strategy
    • Large family-based study finds 80 percent of autism risk is from inherited genes
    • Autism Speaks Canada is excited to announce their new partnership with MKM group and Shattered Dreams Esports
    • Autism Speaks awards more than $4.7 million for autism research
    • Autism Speaks Canada is excited to announce their new partnership with bubly sparkling water beverage
    • Six Autism Speaks studies on 2018 list of top advances in autism
    • Senator Munson's Visit to McMaster May 21, 2019
    • Community Connections Inspire Samsung Canada and Autism Speaks Canada
    • Autism Speaks Canada's annual Walk comes to Waterloo this Sunday
    • Autism Speaks Canada's annual Walk comes to Toronto
    • Autism Speaks' MSSNG project reaches 10,000-genome milestone
    • The Canada Council for the Arts Reveals the 2019 Killam Program Winners
    • Light It up Blue With Autism Speaks Canada
    • Response to the Ontario Autism Program (OAP)
    • DNAstack and Autism Speaks® Announce Collaboration to Accelerate Scientific Discovery on One of the World's Largest Autism Genome Databases
    • Autism Speaks launches $1.5 million funding opportunity for treatment studies
    • Whole genome sequencing reveals new type of genetic influence on autism
    • Understanding the 2018 National Autism Spectrum Disorder Surveillance System (NASS) Report
    • Autism Speaks releases new strategic plan for science
    • World's largest autism genome databank adds more than 2,000 sequences
    • Support Rooted in Desire to Improve Lives
    • Samsung Canada, Silken Laumann and Autism Speaks Canada Invite Canadians to Learn the Love Spectrum
    • Your ATN@Work: Treating anxiety in children and teens with autism
    • Your ATN@Work: Recognizing anxiety in children and teens with autism
    • Expanding Service Options for Children and Youth with Autism
    • Tracing autism's trajectories could help explain its diversity
    • Gathering MSSNG Insights on Autism
    • Thomas Frazier to join Autism Speaks as Chief Science Officer
    • Study Aims to Crack Autism Code
    • Ontario Ombudsman has released the report, Nowhere to Turn
    • The Autism World: Choosing In
    • The Government of Canada wants your input as they develop accessibility legislation
    • The University of Windsor is looking for fathers across Canada
    • Autism Speaks MSSNG study expands understanding of autism's complex genetics.
    • Choices Markets to Host Fundraiser to Raise Awareness and Funds for Autism Speaks Canada
    • The Sinneave Family Foundation and Autism Speaks Canada Partner With Organizations Across Canada to Improve Employment Futures for Individuals With Autism Spectrum Disorder
    • Ontario Providing More Supports For Children With Autism

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Autism Speaks Launches MSSNG Portal for Open-Access Genomics Research

Online tools enable scientists worldwide to explore and share DNA clues to autism

New York, N.Y. (September 1, 2015) – Autism Speaks, the world’s leading autism science and advocacy organization, today launched the web-based portal for its MSSNG database, making the resource available to researchers worldwide. The MSSNG portal enables qualified scientists to access, study and share findings on detailed genomic information from people with autism spectrum disorder and their family members.

Announced in December 2014, the MSSNG project (pronounced “missing”) is a significant milestone in advancing autism research. MSSNG aims to sequence the complete genomes of 10,000 individuals affected by autism and their families by early 2016 – an unprecedented undertaking that provides the global autism research community with an open resource to answer some of the most vexing questions about the disorder. This could lead to breakthroughs in identifying the causes and subtypes of autism, as well as advancing the diagnosis and personalized treatment of the disorder.

The new portal, developed as an open source project in partnership with BioTeam, Inc., represents a much-anticipated step in making MSSNG’s wealth of genomic data available to the autism science community. To date, MSSNG has completed sequencing of 3,540 genomes, of which 1,715 are available to researchers through the portal, with the remaining being readied for release. Several thousand additional genomes are undergoing sequencing with Macrogen.

Autism Speaks’ development of the MSSNG portal also includes collaboration with The Centre for Applied Genomics at the Hospital for Sick Children, in Toronto, and Google to analyze and store MSSNG’s data utilizing Google Cloud Platform and Google Genomics. So far, more than 60 researchers at 26 prestigious institutions on four continents have been approved to access the data via the portal.

“The development, open sharing and collaborative exploration of massive databases of genomic information, like those already available through MSSNG, will shape the future of autism research more than any other specific area of scientific investment,” said Dr. Robert Ring, chief science officer at Autism Speaks.

Initially, the accessibility of genomic data in MSSNG was largely limited to researchers with advanced bioinformatics and computer programming skills. “Because this resource is so novel, the appropriate toolbox had to be built to ensure that everyone who wants to work with MSSNG, and might benefit from MSSNG, can do so,” said Dr. Mathew Pletcher, vice president and head of genomic discovery at Autism Speaks.

The depth and breadth of MSSNG’s data set provides the necessary context for evaluating the significance of a genetic variant that might be detected in diagnostic testing. The MSSNG portal provides a gateway for qualified researchers, clinicians and genetic counselors to easily access and learn more about that variation. The portal’s tools also allow researchers to find the variations that have been discovered in a particular autism associated gene; gauge the expected severity of a gene change; and determine how often a particular gene change is inherited from a parent versus arising spontaneously (de novo) in a person affected by autism.

"The development of the portal system to contextualize and make accessible the massive amounts of data for researchers and doctors is as important to the project as getting the genome sequencing itself," said Dr. Stephen Scherer, director of the MSSNG project, and a senior scientist at the Hospital for Sick Children and professor of medicine at the University of Toronto.

The portal produces informative graphics that illustrate the depth and quality of the sequence data available for a particular gene sequence. And users can find information on groups of genes that have similar actions. In some circumstances, through Autism Speaks, researchers can request contact with individuals who have gene changes of interest.

This represents the first generation of the MSSNG portal. New features and tools will be added based on feedback from users, ensuring that the portal meets the needs of the research community. Plans call for expanding the portal to include a separate interface designed to help families and individuals explore the results of their own genetic tests and connect with others who have similar gene variants and/or issues of interest.

About Autism

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 behavioral challenges, and repetitive behaviors. 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, and treatments 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 $560 million to its mission, the majority in science and medical research. Each year, Walk Now for Autism Speaks events are held in nearly 100 cities across North America. On the global front, Autism Speaks has established partnerships in more than 70 countries on five continents to foster international research, services and awareness. To learn more about Autism Speaks, please visit AutismSpeaks.org.

From:

Autism Speaks
C.J. Volpe
646-385-8532
cj.volpe@autismspeaks.org


Aurelia Grayson
646-385-8531
aurelia.grayson@autismspeaks.org

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