Autism
The largest-ever autism genome study reveals that the disorder’s genetic underpinnings are even more complex than previously thought. The findings suggest siblings who have autism have different autism-linked genes.
The largest-ever autism genome study reveals that the disorder’s genetic underpinnings are even more complex than previously thought: Most siblings who have autism spectrum disorder (ASD) have different autism-linked genes.
Led by the director of the Autism Speaks MSSNG project (pronounced “missing”), the report made the cover of Nature Medicine.
Simultaneous with publication, the study’s data became part of the historic first upload of approximately 1,000 autism genomes to the Autism Speaks MSSNG portal on the Google Cloud Platform.
Autism Speaks will be making the de-identified data freely available for global research to speed understanding of autism and the development of individualized treatments. The goal of the project’s first phase is to upload 10,000 sequenced autism genomes, together with state-of-the-art, web-based analytic tools.
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"This is an exemplar for a future when open-access genomics will lead to personalized treatments for many developmental and medical disorders." |
In its first phase, the MSSNG project aims to make at least 10,000 sequenced autism genomes available for research, along with a "tool box" of state-of-the-art instruments to aide analysis.
In the new study, the researchers sequenced 340 whole genomes from 85 families, each with two children affected by autism. They found that the majority of siblings (69 percent) had little to no overlap in the gene variations known to contribute to autism. Less than a third (31 percent) of the sibling pairs shared the same autism-associated genes.
The findings challenge long-held presumptions. Because autism often runs in families, experts had assumed that siblings with the disorder were inheriting the same autism-predisposing genes from their parents. It now appears this may not be true in most cases.
“We knew that there were many differences in autism, but our recent findings firmly nail that down,” Dr. Scherer says. “We believe that each child with autism is like a snowflake – unique from the other.”
“This means we should not be looking just for suspected autism-risk genes, as is typically done in diagnostic genetic testing,” Dr. Scherer adds. “A full assessment of each individual’s genome is needed to determine how to best use knowledge of genetic factors in personalized autism treatment.” Whole genome sequencing goes far beyond traditional genetic testing to analyze an individual’s complete DNA sequence.
Note - 2016-02-08
Reader Angela Tollersons writes, "Parents of special needs children – and all parents, for that matter – deserve a helping hand from their community, which is why I feel it’s so important that we lend them our support. I believe you and I have a shared goal of spreading information on important health issues."She suggests the following resources for parents dealing with autism:
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