World’s largest DNA study of autism reveals 18 new genes that could help diagnose people with the disorder

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    The world’s largest genetic study of people with autism has pinpointed 18 new genes that are linked to the condition.

    The discovery could help identify new sub-types of the condition, as well as help explain its causes, researchers claim.

    The find could also explain why people with autism often have other medical conditions, including adult diabetes and heart problems.

    The world's largest genetic study of people with autism has pinpointed 18 new genes that are linked to the condition. The discovery could help identify new sub-types of the condition, as well as help explain its causes, researchers claim

    The world’s largest genetic study of people with autism has pinpointed 18 new genes that are linked to the condition. The discovery could help identify new sub-types of the condition, as well as help explain its causes, researchers claim

    THE EXPERIMENT 

    Scientists studied the DNA of more than 5,000 families affected by autism to find genes that contribute to the spectrum disorder.

    Traditional genetic analyses look for mutations, or ‘spelling changes,’ in the one percent of our DNA that spells out our genes.

    By contrast, the new database allowed researchers to analyse the entire three billion DNA base pairs that make up each person’s genome.

    They also studied abnormalities in chromosomes, the threadlike cell structures that package and organise our genes.

    In addition, many of the genetic variations turned up in areas of the genome once considered ‘junk DNA.’

    The large study enabled the researchers to pinpoint 18 new genes linked to autism.

    The genes were identified by the largest ever autism genome sequencing programme, which was funded by advocacy group Autism Speaks.

    ‘It’s noteworthy that we’re still finding new autism genes, let alone 18 of them, after a decade of intense focus,’ said Dr Mathew Pletcher, vice president of Autism Speaks, who led the study.

    ‘With each new gene discovery, we’re able to explain more cases of autism, each with its own set of behavioural effects and many with associated medical concerns.’

    The study involved the analysis of 5,205 whole genetic sequences from families affected by autism.

    To date, scientists have identified 61 genetic variations that affect the risk of autism.

    Finding genes that are linked to autism could help deepen our understanding of the condition’s many different effects, Dr Pletcher said.

    Autism Spectrum Disorder (ASD) can cause a wide range of symptoms, which include problems with communicating with others and perceiving the the world.

    ‘The unprecedented database is enabling research into the many ‘autisms’ that make up the autism spectrum,’ said the study’s senior investigator, Dr Stephen Scherer

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