Researchers have identified a rare genetic variant linked to autism in DLX1, a gene that regulates the growth of neurons, they reported in December in the American Journal of Medical Genetics.

The neurons of people with Rett syndrome contain an overabundance of retrotransposons — DNA sequences that copy and insert themselves into new spots throughout the genome — during early development, according to a study published 18 November in Nature.

Scientists are changing their minds about the role of microglia, the brain’s strongest and most agile soldiers against damage and infection. In healthy brains, microglia help build and eliminate synapses, the junctions between neurons, according to a study published 2 November in PLoS Biology.

A controversial new approach that quiets the activity of certain neurons in the brain alleviates breathing difficulties in a mouse model of Rett syndrome, according to a study published 4 October in the Proceedings of the National Academy of Sciences.

Proteins that function at the synapse, the junction between neurons, have been strongly linked to autism. At the Society for Neuroscience annual meeting in San Diego, Mriganka Sur, professor of neuroscience at the Massachusetts institute of technology, explained how studying synapses is revolutionizing our understanding of autism.

In a study published last week, Huda Zoghbi’s team showed that neurons that produce a neurotransmitter called gamma-aminobutyric acid, or GABA, play a crucial role in the development of Rett syndrome. Zoghbi caught up with SFARI at the Society for Neuroscience annual meeting in San Diego to discuss the study’s implications for understanding autism.

Researchers have developed the first stem cell system that makes it possible to study the early development of neurons from people with Rett syndrome, a rare disorder on the autism spectrum.

Blocking the expression of the MeCP2 gene decreases the number of synapses, the junctions between neurons. It also prevents synapses from scaling up their activity to make up for the loss, according to unpublished data shown yesterday at the Society for Neuroscience annual meeting in San Diego.

Stem cell studies show that a mutation in the neuroligin-4 gene disrupts the normal development of synapses, the junction between neurons, according to unpublished data shown Sunday at the Society for Neuroscience annual meeting in San Diego.

A new mouse model for Rett syndrome shows that disrupting a single brain messenger can produce nearly all of the characteristic features of the syndrome, researchers report today in Nature.