Two weeks of treatment with a cancer drug called topotecan boosts expression for a year of the gene that’s deficient in Angelman syndrome, according to unpublished mouse research presented 20 March at the New York Academy of Sciences.

A candidate drug for Angelman syndrome shows promise in activating the gene silenced in people with the disorder, and only that gene. Why doesn’t it unsilence other genes?

Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.

A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.

Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.

Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.

The brains of individuals with autism express low levels of genes involved in metabolism and protein assembly, according to a postmortem study published 12 September in PLoS One.

Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.

Researchers have used stem cells to identify 801 neuronal genes that are preferentially expressed from either the maternal or paternal chromosome, according to a study published 30 August in PLoS One. Of these genes, 26 are linked to autism and 48 to schizophrenia. 

Mice that model Angelman syndrome, an autism-related disorder, are more motivated to earn rewards than controls are, according to unpublished results presented Wednesday at the 2012 Society for Neuroscience annual meeting in New Orleans.