After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.
We finally have access to whole-genome sequences from people with autism. But before we can properly interpret these data, we need to know what we’re looking for.
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Children missing a stretch of DNA on chromosome 16 show worsening motor and social skills in the first eight years of life; those with an extra copy of the region do not show this decline.
Mutations in a gene called TRIP12 — which is involved in tagging proteins for destruction — can lead to intellectual disability, language delay and autism.
In children with a deletion on chromosome 22, having autism does not boost the risk of developing schizophrenia later in life.
An analysis of whole genomes from more than 5,000 people has unearthed 18 new candidate genes for autism.
Most adults with genetic variants tied to certain conditions, such as heart disease or cancer, go undiagnosed.
DNA deletions and duplications tied to autism crop up in people without the condition, too.
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