Experiments with fruit flies have enabled researchers to assess the biological impacts of dozens of rare genetic mutations found in autistic people, a new study finds.

The work focused on one kind of genetic alteration that occurs more often in autistic people than in non-autistic people and is especially challenging for scientists to understand: missense mutations, in which a swap of a single DNA letter alters one amino acid in a protein.

Understanding the roles played by genetic variants of unknown significance “is one of the biggest problems in medical genomics and a daily challenge for our clinical colleagues,” says Annette Schenck, chair and professor of translational genomics of neurodevelopmental disorders at Radboud University Medical Center in Nijmegen, the Netherlands, who did not participate in this work. The new study “is spot-on, addressing this problem in an impressive scale,” she says.

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Article quoted from: SPECTRUM