Skip to main content

Spectrum: Autism Research News

Tag: rare variants

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.

5 Comments

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.

13 Comments
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.

0 Comments

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.

0 Comments

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.

0 Comments

A call for open-science approaches in autism research

by  /  16 October 2012

Sharing data and tools is universally efficient, but the study of autism in particular presents challenges that can benefit from an open-science framework, says Randy Buckner.

1 Comment

Common variants, en masse, may add up to strong autism risk

by  /  15 October 2012

Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.

1 Comment

Old mice may pass on ‘epimutations’ to offspring

by  /  14 October 2012

The sperm of old mice has an unusual epigenome, the profile of chemical modifications to the underlying DNA code, according to a poster presented Saturday at the 2012 Society for Neuroscience annual meeting in New Orleans. The findings suggest an explanation for the so-called paternal age effect in autism.

0 Comments
September 2012

Insights for autism from Williams syndrome

by  /  18 September 2012

Studying the well-characterized Williams syndrome could help researchers understand autism and discover new therapeutic targets, says Andreas Meyer-Lindenberg.

3 Comments
August 2012

Genetics: Study finds risk gene for autism in males

by  /  31 August 2012

Mutations in AFF2, a gene located on the X chromosome, are about five times as common in men with autism as in controls, according to a study published 10 July in Human Molecular Genetics.

0 Comments