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Spectrum: Autism Research News

Tag: rare variants

February 2011

Matthew State: Bridging the gap between bench and bedside

by  /  24 February 2011

Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.

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Genetics: Study reexamines role of 16p11.2 in autism

by  /  23 February 2011

Duplication or deletion of 16p11.2 — a much-studied chromosomal region with a strong association with autism — is present in 0.76 percent of people with the disorder, according to a meta-analysis published February in Genetics in Medicine.

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Genetics: Centrosome gene linked to autism

by  /  18 February 2011

Rare mutations in TSGA14, a component of the centrosome — which is required for the generation of new neurons — may be associated with autism, according to a study published in January in the American Journal of Medical Genetics.

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Families hint at diverse effects of chromosome 16p deletion

by  /  14 February 2011

Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes.

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January 2011

Genetics: Rare mutation found in gene linked to autism

by  /  31 January 2011

Researchers have identified a rare genetic variant linked to autism in DLX1, a gene that regulates the growth of neurons, they reported in December in the American Journal of Medical Genetics.

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Risk of autism spikes for children of older men

by  /  28 January 2011

A man’s risk of fathering a child with autism begins to rise at age 30 and significantly increases after age 50, according to a report published online 30 November in Molecular Psychiatry.

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December 2010

Genetics: Gene interaction map reveals disease response

by  /  21 December 2010

The pattern of interactions among different genes in yeast cells changes in response to disease-like conditions, in this case a DNA-damaging agent, according to a study published 3 December in Science. Mapping epistasis — how various cellular factors work together — is key to understanding complex disorders, such as autism.

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Scientists create mouse models of chromosome 16 defects

by  /  13 December 2010

Two independent groups have created mice that have deletions or duplications in a large section of chromosome 16. Each team has produced an animal with a different set of features, some of which — such as large head size and repetitive behaviors — are reminiscent of people with autism.

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November 2010

Utah pedigree study pegs chromosome 15 for autism risk

by  /  10 November 2010

Chromosome 15 may harbor one or more risk genes for autism, according to a new study of multigenerational inheritance in Utah. Researchers have gathered data on family pedigrees stretching back as far as nine generations, with up to five family members affected by the disorder.

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October 2010

Multi-gene deletion creates model for Angelman syndrome

by  /  7 October 2010

A new mouse model of Angelman syndrome that knocks out a large stretch of a key chromosome is clarifying some of the molecular mechanisms underlying the more severe forms of the disorder.

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