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Spectrum: Autism Research News

Tag: rare variants

November 2011

Genetic studies probe sleep hormone’s role in autism

by  /  13 November 2011

A subset of people with autism have genetic and biochemical abnormalities in a sleep-related enzyme, according to research presented Friday at a satellite conference of the Society for Neuroscience annual meeting in Washington, D.C.

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October 2011
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.

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September 2011

Genetics: Exome study finds new autism-linked mutations

by  /  16 September 2011

Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.

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Ambitious U.K. project set to sequence 10,000 genomes

by  /  15 September 2011

The largest and most ambitious genome-sequencing project to date aims to identify rare variants and study their association to disease traits in 10,000 people.

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Autism exome study pinpoints mutations in brain genes

by  /  14 September 2011

Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

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New mutations spike in offspring of older fathers

by  /  12 September 2011

The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.

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Chromosome 16 duplication raises risk of extreme thinness

by  /  1 September 2011

Individuals with a duplication of a chromosomal region associated with autism and intellectual disability are at higher risk for low birth weight, restricted eating leading to extreme thinness, and smaller-than-average head size.

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August 2011

Genetics: Spontaneous mutations play role in schizophrenia

by  /  30 August 2011

Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.

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How fish can help find causes of autism

by ,  /  29 August 2011

Zebrafish share genes and pathways with humans, making them a useful tool to identify the genes that malfunction in autism, says expert Hazel Sive.

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New genetic map of developmental disability

by  /  24 August 2011

By comparing the DNA of thousands of children who have developmental disabilities to that of controls, researchers have identified numerous mutations likely to contribute to disease.

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