A decade of research on the biology of autism, combined with a steady rise in diagnoses, has finally piqued the pharmaceutical industry’s interest in developing drugs for the disorder. Preliminary data from one small clinical trial already show positive results, and results from several others are expected early this summer.

FMRP, the protein missing in fragile X syndrome, is needed for the birth of new neurons, for regulating the translation of RNA into protein, and for maintaining the structural integrity of spiny neuronal projections, according to several new studies.

Chromosomal microarray analysis, which screens the entire genome for tiny blips in the sequence, should be the first genetic test performed when diagnosing autism, says a consortium of clinical geneticists. The recommendation comes on the heels of a study that found the test is three times more effective at spotting autism variants than are standard clinical methods.

Among animal models of autism, the mouse reigns supreme. But could much simpler species — flies, bees, worms, fish — also teach us about the disorder?

Researchers are tinkering with mouse models to investigate the function of a protein that helps wire neurons together and that has repeatedly been linked to autism. Three such reports of the protein, neuroligin-1, have appeared this year.

Two independent teams have discovered key molecular steps in the way a single gene disrupts the connections between neurons in individuals with Angelman syndrome. Because the gene, UBE3A, has also been linked to autism, the findings could help scientists understand and treat a range of neurodevelopmental disorders.

Scientists have identified distinct blood signatures of cytokines — proteins that control communication between cells of the immune system — in individuals with fragile X syndrome and autism.

Young mouse models of fragile X syndrome show a significant lag in the development of synapses, the connections between neurons, according to a study published in Neuron. The findings suggest that a similar mistiming may be responsible for the sensory problems — such as hypersensitivity to touch and sound — sometimes seen in people with fragile X syndrome.

There are several short periods during development in which our brains are ‘plastic’ — meaning that neuronal connections appear and disappear depending on how much they are used. Researchers may have found a way to reopen those learning windows.

With an openness to collaboration and a healthy dose of daring, Evan Eichler has turned his offbeat interest in repeat DNA sequences into a new understanding of how genomes evolve, expediting the search for genes disrupted in autism.