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Spectrum: Autism Research News

Tag: rare variants

February 2013

Genetics: Link between melatonin and autism remains elusive

by  /  15 February 2013

Some Chinese individuals with autism have rare mutations that may disrupt the production of melatonin, the hormone that regulates sleep, according to a study published 17 January in PLoS One.

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January 2013
Conceptual illustration of two siblings, with one possessing an inherited mutation.

Sequencing studies implicate inherited mutations in autism

by  /  23 January 2013

Rare, inherited mutations contribute to a significant proportion of autism cases, helping to explain the heritability of the disorder, according to two new studies published today in Neuron.

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Study links autism to genomic ‘hotspots’ of mutation

by  /  21 January 2013

The genome appears to be littered with so-called ‘hotspots,’ areas that are prone to single-letter mutations, according to research published 21 December in Cell.

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Newer mutations more likely to lead to disorders

by  /  9 January 2013

Of the thousands of DNA variants linked to autism, those that evolved later are the most likely to be harmful, according to a study published 28 November in Nature.

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December 2012

Genetics: Searching for answers

by  /  6 December 2012

Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.

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November 2012

Massive genetics study reveals autism-linked variants

by  /  21 November 2012

By merging genetic data from two large clinical repositories, from a total of more than 30,000 children, researchers have identified 18 copy number variants (CNVs) — DNA deletions or duplications — that play a role in autism. The findings appeared 9 October in Molecular Psychiatry.

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Genomic laboratory equipment.

Genetic tests for autism debut amid concerns about validity

by  /  1 November 2012

A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.

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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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Genetics: More SHANK3 mutations in mild autism cases

by  /  26 October 2012

Mutations in SHANK3, a leading autism risk gene, occur in roughly two percent of individuals with autism spectrum disorders, according to a study published 15 August in the European Journal of Human Genetics.

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Thomas Bourgeron: Pioneering rare paths in autism genetics

by  /  25 October 2012

Thomas Bourgeron discovered the first rare mutation linked to non-syndromic autism, pointing to neuronal connections as prime drug targets.

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