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Spectrum: Autism Research News

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Genes

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

June 2010

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Worms, despite their crude nervous system, can be useful models of the genetic underpinnings of autism, according to unpublished work presented today at a meeting of the Genetics Society of America in Boston.

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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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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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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

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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Darwinian emotion

by  /  27 May 2010

Charles Darwin performed what may be the world’s first study of how people interpret and understand the emotions of others, according to a paper published in the Journal of the History of the Neurosciences.

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Gene expression pattern could pinpoint autism

by  /  25 May 2010

Researchers can reliably identify individuals with autism by looking at the expression pattern of a set of genes in cultured blood cells, according to a poster presented Friday at the IMFAR 2010 conference in Philadelphia.

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