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Gene test that could aid autism diagnosis

A landmark study into the causes of autism has identified key genetic “fingerprints” that could help doctors diagnose the disorder in children.

British scientists are now seeking funding for a pilot study to investigate the effectiveness of new genetic tests.

The research, conducted by around 60 teams of experts from 12 countries including the UK and Republic of Ireland, identified rare sites of genetic disruption that were almost 20% more common in autistic children than in unaffected individuals.

They involved “copy number variants” — losses and duplications of whole chunks of DNA — that were often not present in parents.

Many of the copy number variants occurred in regions of the genetic code blueprint, or genome, already implicated in autism. Others were found in previously unsuspected regions.

One British team from Oxford University, working with colleagues from Newcastle, is now planning follow-up research to see whether tests based on the findings can help diagnose autism.

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