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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

July 2010
News

Synaptic defects link autism, schizophrenia

by  /  2 July 2010

Several independent groups have found previously unknown risk genes for autism, schizophrenia and mental retardation. The candidate genes have one thing in common: they encode proteins that are needed for the healthy function of synapses, the junctions between neurons.

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News / Toolbox

Imaging interactions

by  /  1 July 2010

A clever new method records brain activity during live, back-and-forth social interactions and could help scientists study joint attention — the act of looking at an object the same time someone else does.

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June 2010
Opinion

Simple pathway

by  /  24 June 2010

A study of a rare form of epilepsy found in Amish groups adds heft to the idea that mTOR — a much-studied hub in a massive network of brain cell proteins — is an important biochemical player in autism.

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News

Faulty connectivity found in mouse model of schizophrenia

by  /  18 June 2010

Mice engineered to carry a well-known risk factor for schizophrenia show disruptions in the connections between two brain regions that coordinate memory and learning. And these disruptions directly cause problems with working memory — the ability to actively hold information and to recall that information to make a decision, according to a study published in Nature.

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News

Rett gene function extends beyond neurons, study finds

by  /  15 June 2010

Microglia, brain cells that provide immune protection to neurons, may influence the onset and course of Rett syndrome, according to a study published in the Journal of Neuroscience.

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News

Worms set to fill holes in autism research

by  /  14 June 2010

Worms, despite their crude nervous system, can be useful models of the genetic underpinnings of autism, according to unpublished work presented today at a meeting of the Genetics Society of America in Boston.

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News

Autism marked by copy number changes in coding regions

by  /  11 June 2010

People with autism harbor more copy number variants (CNVs) — deletions or duplications of large chunks of DNA — compared with controls, but only in the protein-coding regions of the genome, researchers reported Wednesday in Nature. The study also pinpointed more than 100 new risk genes for autism.

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News

New model mines simpler organisms for autism genes

by  /  3 June 2010

A new model that compares how the same genes behave in different organisms could help researchers identify previously unknown candidates for diseases such as autism. The model, published in the Proceedings of the National Academy of Sciences, takes advantage of the genetic overlap between humans and simpler organisms to discover genes associated with complex diseases.

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News

Researchers identify biological roles for fragile X protein

by  /  1 June 2010

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.

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May 2010
News

Microarray analysis deemed best genetic test for autism

by  /  28 May 2010

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.

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