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Spectrum: Autism Research News

Tag: whole-exome sequencing

October 2012

Mutations in both gene copies more common in autism

by  /  30 October 2012

People with autism are twice as likely as controls to have mutations that disable both copies of a gene, according to preliminary research presented Wednesday at the Autism Consortium Research Symposium in Boston.

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September 2012

Postmortem brains crucial for autism research

by ,  /  4 September 2012

Postmortem brains from individuals with autism allow researchers to look at patterns of gene expression in different cell types, and to understand the interplay among neurons and neural circuits, says Dan Arking.

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August 2012

Genes and environment are two-way street in autism risk

by  /  21 August 2012

Genes and the environment each influence the role of the other in determining the risk of developing autism. Genetics can determine how susceptible one is to the environment, and environmental factors can influence gene expression and introduce mutations, says immunologist Janine LaSalle.

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Scientists uncover new risk gene for autism

by  /  2 August 2012

Several lines of converging evidence suggest that low-density lipoprotein receptor-related protein 2 (LRP2), which is involved in early patterning of the brain, is a risk gene for autism.

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July 2012

Geneticists join forces for autism sequencing push

by  /  16 July 2012

Researchers have launched an effort to yoke together disparate gene sequencing projects in the U.S., Canada and the U.K., aiming to double the number of known autism-related genes in the next three to four years.

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Exome sequencing identifies unknown disorders

by  /  9 July 2012

By sequencing the protein-coding region of the genome of a single affected family member, researchers were able to diagnose 20 percent of people in 85 consanguineous families with unknown neurodevelopmental disorders, according to research published 13 June in Science Translational Medicine.

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June 2012

Focus on function may help unravel autism’s complex genetics

by ,  /  26 June 2012

To find the pathogenic mutations in complex disorders such as autism, researchers may need to conduct sophisticated analyses of the genetic functions that are disrupted, says geneticist Aravinda Chakravarti.

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May 2012
3d Chromosome with DNA visible inside

Genetics: Search for recessive mutations reveals autism genes

by  /  30 May 2012

By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.

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Chromosome exchanges reveal new autism-related genes

by  /  3 May 2012

Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell.

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April 2012

Fast-forward

by  /  27 April 2012

In the last three years, autism researchers have gone from sequencing single genes to whole exomes, as highlighted at the Translational Neuroscience Symposium in Switzerland last week.

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