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Spectrum: Autism Research News

Tag: rare variants

December 2014

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 Researchers presented the unpublished findings in five posters yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.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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Mark Daly maps the genetic architecture of autism

 /  1 October 2014

On 1 October, Mark Daly discussed new insights into autism from common and rare genetic variants. (Due to technical issues, the video replay for this webinar is unavailable.)

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September 2014

Sensitive sequencing methods pinpoint mosaic mutations

by  /  8 September 2014

Advanced sequencing methods can detect spontaneous genetic changes that show up in only a small subset of a person’s cells, suggest two new studies published in August. Despite their low prevalence in the body, these so-called ‘somatic mosaic mutations’ occur frequently in people and may be important contributors to brain disorders.

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June 2014

What constitutes ‘environmental’ risk for autism?

by  /  11 June 2014

If inherited risk for autism is 50 percent, does that make the remaining half of risk environmental? Scientists clarify a large population study.

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Large study underscores role of gene copy number in autism

by  /  2 June 2014

People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published 1 May in the American Journal of Human Genetics.

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April 2014

Genetics: New autism mutations affect DNA packaging

by  /  8 April 2014

Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.

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