Children who express a subset of genes — including one located in the autism-associated chromosomal region 16p11.2 — at higher or lower levels than normal benefit from treatment with the antipsychotic drug risperidone, according to a study published 7 June in the Pharmacogenomics Journal.

Sequencing an individual’s entire genome may be the key to tailoring treatments for heterogeneous disorders, suggests a study published 15 June in Science Translational Medicine.

What’s known about the genetics of autism supports the ‘snowflake’ hypothesis — that the molecular underpinnings of disease are essentially unique from individual to individual — says human geneticist Brett Abrahams.

Individuals with autism have multiple mutations in a pathway that functions in the mitochondria, the energy center of the cell, according to a study published 27 April in the European Journal of Human Genetics. They also have higher-than-average numbers of variants in pathways involved in metabolism, gene expression and the regulation of cell division.

Small duplications or deletions of DNA regions — called micro-copy number variations — may not lead directly to disease, but could raise the risk of autism when combined with other mutations, according to a study published in March in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.

The first study to look at mitochondria — the powerhouses of the cell — in postmortem brain tissue taken from children with autism has found significant abnormalities in their function in some regions of the brain.

Genetic risk factors for specific language impairment and autism affect the timing of language learning in the general population, according to a study published in February in Genes, Brain and Behavior.

Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.

Rare mutations in TSGA14, a component of the centrosome — which is required for the generation of new neurons — may be associated with autism, according to a study published in January in the American Journal of Medical Genetics.