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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 2011

Studies find high rate of rare new mutations in autism

by  /  8 June 2011

Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.

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Molecular mechanisms: Metabolic changes increase risk of autism

by  /  8 June 2011

Children with autism have fewer DNA modifications that regulate gene expression compared with healthy siblings and controls, and show evidence of DNA damage, according to a study published 26 April in the Journal of Autism and Developmental Disorders.

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Solving the complex causes of a multi-hit disorder

by ,  /  7 June 2011

What’s known about the genetics of autism supports the ‘snowflake’ hypothesis — that the molecular underpinnings of disease are essentially unique from individual to individual — says human geneticist Brett Abrahams.

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Genetics: Chromosome 11 deletion links autism, obesity

by  /  7 June 2011

Deletions on a segment of chromosome 11 are associated with autism, attention problems and obesity, according to a study published in the June issue of the American Journal of Medical Genetics Part A.

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Molecular mechanisms: Mouse model supports role for SHANK3 in autism

by  /  3 June 2011

Mice with a mutation in SHANK3, a leading autism candidate gene, show moderate social defects, including less-than-normal interest in other mice. The findings, published 27 May in Cell, suggest that mutations in different sites on the gene can lead to different behaviors. This paper was retracted on 17 January 2013. Associate director of research Alan Packer discusses the implications of the retraction here.

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Schizophrenia gene directs two autism genes at synapse

by  /  2 June 2011

A new study provides the first functional link between the schizophrenia risk gene DISC1 and two candidate genes for autism. DISC1 significantly alters expression of NRXN1 and NRXN2 at key phases of development, according to a brief report in the June issue of Molecular Psychiatry.

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Complex mathematics simplifies brain imaging

by  /  1 June 2011

A complex mathematical technique can improve the sensitivity of experiments that rely on brain imaging, allowing researchers to study how the brain responds to sequences of stimuli, according to a study published in the June issue of NeuroImage.

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May 2011

Molecular mechanisms: Gene linked to autism and epilepsy

by  /  25 May 2011

Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.

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Networks of genes altered in autism brains, study says

by  /  25 May 2011

Two networks of genes are abnormally expressed in the brains of people with autism, according to a study published today in Nature.

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New tool links gene to function in zebrafish

by  /  25 May 2011

Researchers have devised a way to inactivate genes in zebrafish embryos, creating a collection of hundreds of mutant fish lines in which gene function can be explored. The technique was published online 8 May in Nature Methods.

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