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.

The symptoms of Asperger syndrome look slightly different in girls than in boys, according to a new study. However, gender differences in autism are poorly understood, and the results are preliminary, say other researchers.

Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.

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.

Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.

An autism-associated gene variant of glyoxalase 1, or GLO1, leads to the buildup of a compound that is toxic to neurons, according to a study published 12 April in Autism Research.

Two rare, unlikely and inherited mutations in the same gene may together have contributed to a case of autism, according to a study published 23 March in Molecular Psychiatry. The results suggest that the gene, DIAPH3, is a new candidate for autism risk.

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.

Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.