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Spectrum: Autism Research News

Tag: rare variants

February 2015

Study downgrades autism gene’s effects to rare glitches

by  /  16 February 2015

After eight years of prominence as an autism risk gene, a new analysis significantly brings down CNTNAP2’s importance in the disorder: According to the study, rare mutations in a single copy of the gene are unlikely to cause autism. 

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Week of FebruaryFeb
9th
2015

Spotted: Maladjusted foals; Kanner controversy

by  /  13 February 2015

Some newborn horses have features of autism, and researchers argue over who first described the disorder.

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Some sibling sets arrive at autism with different mutations

by  /  5 February 2015

Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.

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December 2014

Editors’ picks: Our favorite stories from 2014

by  /  22 December 2014

This year was full of big headlines in autism research. But the biggest stories aren’t necessarily the best — here are some gems you may have missed over the year.

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Method predicts impact of DNA variants on gene expression

by  /  18 December 2014

A new computational approach predicts how sequence variations in both the coding and noncoding regions of a gene affect the gene’s expression. The method, described today in Science, may help researchers understand how specific variants contribute to disorders such as autism.

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Sequencing may offer smoother sailing in diagnostic odyssey

by  /  16 December 2014

Getting to a diagnosis of autism or another neurodevelopmental disorder is a long and frustrating experience for some families — especially when it comes to finding the underlying genetic cause. DNA sequencing could ease this arduous journey.

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November 2014

Genetics first: A fresh take on autism’s diversity

by  /  24 November 2014

Each child with autism is different from the next. One approach rapidly gaining momentum makes sense of this diversity by grouping children together based on their genetics, then looking for patterns in their symptoms. The long-term aim: personalized treatments for each subtype of autism.

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Diverse dopamine defects found in people with autism

by  /  19 November 2014

Experimental drugs can reverse the effects of some autism-linked mutations in the dopamine transporter, a protein that shuttles the chemical messenger dopamine into neurons. Researchers presented the unpublished findings in five posters yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.

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Rising star: Stephan Sanders, accidental geneticist

by  /  6 November 2014

Stephan Sanders has quickly climbed the ranks in autism research. At 35, he’s already credited with bringing a measure of clarity to autism genetics. And that’s just one feat in a long and accomplished resume.

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October 2014

Brain development gene emerges as strong autism candidate

by  /  2 October 2014

Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
 

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