Scientists have identified up to 18 new genes that have links to autism.
The finding is the result of researchers analysing the entire genetic makeup of thousands of people.
The study looked at 5,205 whole genomes from families affected by autism. It was the biggest analysis of this type that scientists have completed so far.
Ryan Yuen: findings offer hope of developing “targeted treatments or interventions”
Links to autism in 61 genes
In total, the researchers found 61 genes linked to autism. However, scientists had already identified 43 of these as being associated with the condition.
Most of the newly identified genes play roles in cell activities already linked to autism and learning disability.
The research is taking place as part of a research programme called MSSNG. The omitted letters in MSSNG (pronounced ‘missing’) represent the missing information about autism that the project seeks to deliver.
It is a collaboration between US non-profit group Autism Speaks, Google and The Centre for Applied Genomics at the Hospital for Sick Children in Toronto.
Ryan Yuen, who led the study, said the findings offer hope of developing “targeted treatments or interventions”.
Biological pathways in the brain
The researchers also found many of the 18 newly identified genes affect the operation of a small subset of biological pathways in the brain. The pathways affect how brain cells develop and communicate.
Mathew Pletcher is a co-author of the study. He said: “In all, 80 per cent of the 61 gene variations discovered through MSSNG affect biochemical pathways that have clear potential as targets for future medicines.”
The findings also illustrate how whole genome sequencing can guide medical care today.
Increased risk for seizures
At least two of the autism-associated gene changes are linked to increased risk for seizures. Others, meanwhile, are associated with heart defects and diabetes.
More than 90 investigators are using the MSSNG database.
Autism Speaks is also funding a community portal. Its purpose is to let study participants explore their genomic information and share experiences with others who have similar genetic profiles.
The new study’s findings are published in the journal Nature Neuroscience. For more information, visit www.mss.ng
Published: 17 March 2017
