SFARI NEWS

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7 August 2012

A Newsletter from the Simons Foundation Autism Research Initiative

NEWS Defects in autism risk genes may lead to slower signals Scientists uncover new risk gene for autism WORKSHOP REPORT Workshop Report: 16p11.2 deletions and duplications IN BRIEF Cognition and behavior: Connectivity deficits link autism, TSC Genetics: Splicing gene alters expression of autism genes Clinical research: Facial features can help diagnose autism TOOLBOX Choice of light-sensitive channel alters inhibitory signals BLOG Fat rats Twin differences

NEWS

Defects in autism risk genes may lead to slower signals

Mutations in two genes linked to autism, neurexin and neuroligin, slow down neuronal signaling, according to research published 2 August in Science. Analyzing the mutations in the nematode Caenorhabditis elegans, the study found that mutations in these genes affect signaling in the opposite direction than is typical. Read More >

Scientists uncover new risk gene for autism

Several lines of converging evidence suggest that low-density lipoprotein

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receptor-related protein 2 (LRP2), which is involved in early patterning of the brain, is a risk gene for autism.

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WORKSHOP REPORT

Workshop Report: 16p11.2 deletions and duplications

The chromosomal region 16p11.2, which spans about 29 genes, is strongly linked to autism. On 27 April, SFARI hosted a workshop to discuss the consequences of duplications or deletions of this region.

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IN BRIEF

Cognition and behavior: Connectivity deficits link autism, TSC

Abnormalities in the connections between language-related brain regions are similar in people with autism and those with tuberous sclerosis, a genetic disorder characterized by benign tumors throughout the brain and body, according to a paper published 1 June in Cerebral Cortex.

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Genetics: Splicing gene alters expression of autism genes

The autism-associated gene RBFOX1 modifies the sequence of hundreds of genetic messages, a number of which affect the expression of other autismlinked genes, according to a study published 7 July in Human Molecular Genetics.

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Clinical research: Facial features can help diagnose autism

The presence of any of three abnormal physical features an asymmetrical face, tufts of hair growing in the wrong direction or a prominent forehead can help diagnose autism, according to a study published 6 June in the Journal of Autism and Developmental Disorders.

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TOOLBOX

Choice of light-sensitive channel alters inhibitory signals

An innovative technique that uses waves of light to silence brain signaling in live animals can affect subsequent neuronal signals, according to a study published 24 June in Nature Neuroscience.

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BLOG

Fat rats
Overfed rodents could be throwing toxicology tests off kilter, according to a review published 13 June in Chemical Research in Toxicology.

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Twin differences
Identical twins are born with significant differences in the chemical modifications to their DNA, suggesting that the uterine environment can profoundly influence development and risk for disease.

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