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Spectrum: Autism Research News

Tag: copy number variation

November 2010

Genetics: Gene family linked to language and autism

by  /  5 November 2010

Loss of activity of FOXP1, a member of a family of genes that regulate gene expression, leads to general behavioral defects, including delays in language, according to a study published in November in The American Journal of Human Genetics.

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October 2010

Storing structure

by  /  28 October 2010

The National Institutes of Health on 30 September launched a public database to catalog a particularly important type of genomic data: so-called ‘structural variations’ — large deletions, duplications and rearrangements of DNA.

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New technique maps mutation-rich regions

by  /  28 October 2010

Researchers have mapped unique identifiers in the regions around human genes that are at risk for duplication or deletion, allowing precise sequencing of nearly 1,000 genes for the first time, according to a paper published today in Science.

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Researchers probe linguistic patterns of Williams syndrome

by  /  25 October 2010

Children with Williams syndrome are chatty, have rich vocabularies and love to tell stories. Yet they have trouble learning certain complex rules of grammar, according to a study published in the Journal of Speech, Language and Hearing Research.

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Genetics: New statistical analysis links mutations to disease

by  /  20 October 2010

A new study, published in September in PLOS Genetics, shows the importance of comparing cases to controls when linking mutations to a disorder. The researchers propose a new method of analysis that takes into account the large size of many genes expressed in the brain.

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Genetics: Autism and attention deficit share mutations

by  /  15 October 2010

Individuals with attention deficit hyperactivity disorder (ADHD) have a higher rate of DNA duplications and deletions, including some in regions linked to autism and schizophrenia, according to a study published 23 October in The Lancet.

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September 2010

Genetics: De novo mutation rate higher in autism

by  /  30 September 2010

Spontaneous harmful mutations are more frequent in individuals with autism and schizophrenia, according to two studies published in September.

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Genetics: Common mutation linked to risk of mental disorders

by  /  27 September 2010

A common variation within a region on chromosome 16 puts a large proportion of the general population at risk for intellectual disability, according to a study published in August in Nature Genetics.

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The power of talk

by  /  21 September 2010

In order to understand the interaction between genes and environment in autism, researchers in different disciplines will have to move back and forth between those two realms, stretching out of their intellectual comfort zones. But if the mood at an interdisciplinary workshop two weeks ago is any indication, that challenge is also a source of excitement.

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August 2010

Risky secrets

by  /  30 August 2010

For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?

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