A small clinical trial at the Seaver Autism Center at Mount Sinai aims to test whether an existing drug, the growth factor IGF-1, will help treat some of the core symptoms of autism in children with a specific genetic mutation.

FMRP, the protein missing in people with fragile X syndrome, localizes in clusters of proteins at neuronal junctions that relay sensory and motor information, according to a study published 23 April in The Journal of Comparative Neurology.

Mice lacking a functional copy of UBE3A, the gene missing or mutated in people with the rare developmental disorder Angelman syndrome, show less inhibitory activity than controls do, according to research published 7 June in Neuron.

The duplication of a chromosomal region missing in people with Williams syndrome is associated with separation anxiety, according to a study published 8 June in The American Journal of Human Genetics.

The absence of a chemical alteration called methylation on some stretches of DNA makes them especially prone to mutations, according to a paper published in PLoS Genetics in May.

Researchers can evaluate core features of autism, such as social deficits and stereotyped behaviors, by watching how mice used to running on a wheel react when the wheel is broken, according to a study published 24 May in Behavioral Brain Research.

Deletions in the second half of the autism-linked gene neurexin-1 are associated with seizures and large head size, according to a study published 23 May in the European Journal of Human Genetics.

To find the pathogenic mutations in complex disorders such as autism, researchers may need to conduct sophisticated analyses of the genetic functions that are disrupted, says geneticist Aravinda Chakravarti.

Two new strains of mice carrying different mutations in the SHANK2 gene show similar autism-like behaviors but opposing effects on brain signaling, according to two independent studies published 14 June in Nature.

Normal aging triggers dramatic changes to the epigenome, the set of chemical tags that turn genes on and off, according to a new study.