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.

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.

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Angelman syndrome, an autism-related disorder, are more motivated to earn rewards than controls are, according to unpublished results presented Wednesday at the 2012 Society for Neuroscience annual meeting in New Orleans.

After nine long years, the Society for Neuroscience annual meeting is returning to New Orleans. And SFARI.org’s reporters are ready to deliver the best advances in autism research that emerge.

Mice that model Angelman syndrome or have a duplication of the 15q11-13 chromosomal region have aberrant brain levels of the chemical messenger serotonin, according to a study published 16 August in PLoS One.

Deleting CYFIP1, a gene within a region linked to Angelman syndrome and autism, in mice leads to symptoms reminiscent of fragile X syndrome, according to a study published 10 August in PLoS One.