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Spectrum: Autism Research News

Tag: rare variants

October 2013

Small deletions, duplications of DNA may up autism risk

by  /  17 October 2013

Two new studies have found more small deletions and duplications of DNA in individuals with autism than in unaffected controls. These variants may also affect the severity of the disorder.

September 2013
Conceptual visualization of DNA sequence.

Genetics: Recessive mutations may contribute to autism

by  /  3 September 2013

The genomes of people who have both autism and intellectual disability have more regions that may harbor recessive mutations than those of their unaffected siblings, according to a study published 11 July in the American Journal of Human Genetics.

August 2013

Whole-genome sequencing unearths new autism mutations

by  /  1 August 2013

The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.

July 2013

Clinics unroll genome tests for undiagnosed disorders

by  /  8 July 2013

Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.

June 2013

Rare, common variants together boost gene analysis

by  /  5 June 2013

A new statistical method for linking genes to a disorder analyzes both rare and common variants of a gene at the same time, according to a study published 14 May in the American Journal of Human Genetics. This makes it possible to confirm associations that other techniques might overlook.

May 2013

Networking tips

by  /  28 May 2013

It is possible to discover relationships between autism genes simply by reanalyzing existing datasets, says Alan Packer.


Genetics: Common genomic duplications enriched in autism

by  /  28 May 2013

Children with autism have more copies of some chromosomal regions than controls do, according to a study published 19 April in Human Molecular Genetics. This is true even after excluding the regions that are the most likely to lead to autism.


Simon Fisher: Hunting on the FOXP2 trail

by  /  20 May 2013

Simon Fisher made headlines in 2001 for finding the first gene related to language. He has been following FOXP2 ever since, and has found that it is important in autism and other psychiatric disorders.

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.

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.