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Spectrum: Autism Research News

Tag: 22q11

August 2012

Chromosome 15 duplications common in autism

by  /  30 August 2012

About 1 in 500 children referred to genetic testing for undefined developmental delay, intellectual disability, or autism have duplications of the 15q11-13 chromosomal region, according to a new analysis. That makes the region the second most common large genetic alteration linked to autism.

June 2012

Genetics: Analysis identifies new autism candidate regions

by  /  19 June 2012

An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.

March 2012

Uncommon testing

by  /  27 March 2012

A new study published in the Journal of Genetic Counseling confirms the relative infrequency of genetic testing for autism.


Incidental findings

by  /  16 March 2012

A survey asks clinical geneticists what type of incidental findings should be returned to people who have their genomes sequenced.


RAS pathway, a potentially unifying theory of autism

by  /  13 March 2012

Dysregulation of the intracellular signaling pathway RAS, a risk factor for idiopathic autism, may provide a unifying theory of the disorder. Although this is not an altogether new hypothesis, several new findings have strengthened the evidence for it considerably.

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February 2012

Genetics: Autism, Tourette syndrome genes overlap

by  /  15 February 2012

Genes implicated in Tourette syndrome overlap with those involved in autism, according to an analysis of rare DNA duplications and deletions in people with the syndrome, published in the March issue of Biological Psychiatry.

January 2012

Genetics: New dataset confirms schizophrenia associations

by  /  27 January 2012

A new study uses data from more than 10,000 typical individuals to validate candidate regions implicated in schizophrenia.

November 2011

Schizophrenia deletion could rouse silent mutations

by  /  14 November 2011

Deletion of 22q11, a schizophrenia-associated chromosomal region, may activate previously silent mutations, according to unpublished work presented Sunday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

October 2011

Stem cells pinpoint players in nerve cell development

by  /  19 October 2011

Stem cells reprogrammed to become neurons can provide a picture of gene expression in neurons that is traditionally available only from brain tissue.

DNA helix with a highlighted area in pink.

Genetics: Rare mutations slightly more common in autism

by  /  5 October 2011

Duplications and deletions of genetic regions linked to autism are rare in individuals referred for genetic testing, but occur at a higher rate than in the general population.