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Spectrum: Autism Research News

Tag: rare variants

September 2011

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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.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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Attention deficit, autism share genetic risk factors

by  /  22 August 2011

Some of the same genetic risk factors may underlie both autism and attention deficit hyperactivity disorder, according to a study published 10 August in Science Translational Medicine.

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X-linked variants may up autism, schizophrenia risk

by  /  3 August 2011

The first study to sequence more than 100 genes on the X chromosome in people with autism or schizophrenia has turned up some promising leads.

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June 2011

Genetic roadmap

by  /  28 June 2011

Sequencing an individual’s entire genome may be the key to tailoring treatments for heterogeneous disorders, suggests a study published 15 June in Science Translational Medicine.

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