18 new genes linked to autism


Autism Speaks’ MSSNG Project is working to fill in the gaps in our knowledge of autism spectrum disorder

Autism spectrum disorder (ASD) is subject to much misinterpretation and mystery. While it affects roughly 700,000 people in the UK alone – more than 1 in 100 – the exact cause is unknown. Scientists suspect ASD is a result of a combination and environmental and genetic factors and now, the world’s largest autism database, Autism SpeaksMSSNG Project, has highlighted an additional 18 gene variations linked to its development.

Published in the journal Nature Neuroscience, the report finds that many of the 18 newly-identified autism genes are related to a small subset of pathways in the brain that affect how cells ‘talk’ to each other. The report also establishes a number of so-called ‘copy number variations’ and abnormalities that are particularly common in the genomes of people affected by autism. These copy variations can be found in areas of the genome once considered to be ‘junk DNA’. These areas help to control when and where our genes switch on and off and appear to be crucial to brain development and function.

The omitted letters in the MSSNG Project’s name stand for the gaps in our understanding of ASD. Since 2014, the collaborative project between Google and Autism Speaks has sequenced the DNA of more than 10,000 families affected by ASD. The goal is to identify subtypes of autism to one day create personalized treatments.

Traditional methods of genetic analysis for autism have focused on single variations in 1 per cent of DNA. MSSNG allows for analysis of 3 billion DNA base pairs within a person’s genome.

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