Genes that make us human, make us ill

The specific regions of human genome known as human accelerated regions (HARs) contain genes that shape complex social and cognitive behaviours, setting humans apart from chimpanzees, their closest kin, during evolution.

However, little is known about the potential effects of genetic mutations that accumulate in those genome regions.

The HARs have been found to contain a variety of genetic mutations implicated in autism and other neurodevelopmental disorders, says a new study in Cell1. “This research brings together the study of intellectual disability and autism and the study of human brain evolution, giving us a method to study disease genetics and identify those parts of our genome that are unique to humans,” says lead scientist Christopher A. Walsh. read more

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