Genetics research has largely failed to generate concrete benefits for autistic people, and its values and goals are due for reassessment, Tabor says.

Among people who carry the fragile X premutation, about 14 percent of boys and 5 percent of girls meet the criteria for autism, but the ‘broad autism phenotype’ may be far more common.

Mutations in the autism-linked gene PAX5 underlie a range of traits, including developmental delay, intellectual disability, seizures and autism.

The current system to approve genetic and metabolic conditions for newborn screening can’t keep pace with research on new therapies. Don Bailey wants to bring it up to speed.

Shafali Jeste has spent the bulk of her scientific career searching for biological markers of autism. Her goal: to improve lives through early diagnosis and speedy testing of therapies.

Autism involves mutations in noncoding portions of the genome in at least 3 percent of people with the condition. The mutations occur in regions that help regulate known autism-linked genes.

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

Integrating genetic analyses into studies of babies’ brain development could help us understand how autism-related genes contribute to autism traits.

As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.