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Genes

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

November 2010
News

Mouse model hints at Alzheimer’s therapies for fragile X

by  /  19 November 2010

Lowering the levels of proteins associated with Alzheimer’s disease can improve symptoms of fragile X syndrome in mice, according to a poster presented Wednesday at the Society for Neuroscience annual meeting in San Diego.

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Potential biomarker found in urine of children with autism

by  /  18 November 2010

Young children with autism have high urine levels of a compound that is likely to be a product of gut bacteria, according to a poster presented Tuesday at the Society for Neuroscience annual meeting in San Diego.

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Video: Mining genes from whole genomes

by  /  18 November 2010

Rapid advances in DNA sequencing technology are enabling researchers to comb quickly — and ever more cheaply — through whole genomes. At the Society for Neuroscience annual meeting in San Diego, Evan Eichler talked to SFARI about what the rapid accumulation of genetic sequence information means for autism research.

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Video: Pathways to discovering autism genes

by  /  18 November 2010

What makes a good candidate gene for autism? At the Society for Neuroscience annual meeting in San Diego, John Rubenstein discussed two complementary ways to identify genes involved in autism: start with the DNA, or start with a hypothesis.

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Lithium targets key enzyme to improve fragile X symptoms

by  /  18 November 2010

Lithium ameliorates some of the cognitive and behavioral deficits associated with fragile X syndrome by blocking GSK-3, an enzyme that plays a key role in development, researchers said Wednesday at the Society for Neuroscience annual meeting in San Diego.

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Automated cage helps diagnose social behavior

by  /  18 November 2010

Researchers have designed an automated cage assay to minimize the anxiety mice feel as they are being tested for social behavior. The new technique was presented at the Society for Neuroscience annual meeting in San Diego.

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Fish tale implicates language gene in autism

by  /  18 November 2010

Reducing the levels of CNTNAP2 — a gene implicated in both autism and language impairment — in zebrafish leads to a decrease in neurons that dampen signals in the brain, according to unpublished data presented Tuesday at the Society for Neuroscience annual meeting in San Diego.

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Fragile X mice have shortage of synaptic proteins

by  /  18 November 2010

The brains of young mice with fragile X syndrome show a dearth of two proteins that are important at the synapse, the junction between neurons, researchers reported Tuesday at the Society for Neuroscience annual meeting in San Diego.

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Inner receptors may be important for fragile X treatment

by  /  18 November 2010

Contrary to popular belief, receptors both outside and inside a cell regulate a cellular pathway that is overactive in people with fragile X syndrome, researchers reported Tuesday at the Society for Neuroscience annual meeting in San Diego. The finding could have significant implications for drug treatments of fragile X syndrome.

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Video: The next decade in autism research

by  /  18 November 2010

In a keynote lecture on Tuesday at the Society for Neuroscience annual meeting in San Diego, Nat Heintz predicted that over the next ten years, scientists will piece together detailed molecular signatures of each of the hundreds of cell types in the mouse brain. After the talk, he sat down with SFARI on a sunny patio to discuss what this decade of advancements might mean for autism research.

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