In April, Massachusetts-based diagnostics company SynapDx launched a large-scale study of its blood test for autism, which analyzes expression of a panel of genes.

Conversations with researchers at the 2013 International Meeting for Autism Research in San Sebastián, Spain, raised provocative questions about the nature of autism. How do we make sense of its staggering heterogeneity, multiple genetic causes and widespread overlap with other disorders?

Watch the complete replay of Flora Vaccarino describing how to model brain development using induced pluripotent stem cells. Submit your own follow-up questions.

By analyzing the expression patterns of nine candidate genes for autism, researchers have identified a population of cells and a select time during fetal development that may be key to the disorder.

Chromosomal duplications or deletions may influence autism-linked genes indirectly, by altering fragments of RNA that regulate gene expression, according to a study published 25 February in PLoS One. 

Exome sequencing has produced a wealth of insight into the heritability of autism and identified a number of promising risk genes. But how much risk lies outside the exome?

In his Directors’ Column, Alan Packer points out how a number of autism risk genes act on a common cellular pathway regulated by a single protein. What other similar convergent paths might be hiding in the literature? Let’s go on a treasure hunt.

MeCP2, the gene that is mutated in Rett syndrome, may regulate a different set of genes in brain cells called astrocytes than in neurons, according to a study published 25 January in Molecular Autism.

Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.

A rare deletion on chromosome 16 is more common in individuals who have schizophrenia than in controls, according to a large genetics study published 16 January in JAMA Psychiatry. This region is close to 16p11.2, implicated in both autism and schizophrenia.