Tag: rare variants

December 2010
News

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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News

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
News

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
News

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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April 2010
News

Future of autism genetics is all in the family

by  /  30 April 2010

Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.

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Opinion

Looming large

by  /  7 April 2010

How many people with autism are also obese?

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March 2010
News

Clinical, animal studies probe DISC1’s role in autism

by  /  1 March 2010

Several genetic and animal studies in the past year have found intriguing ties between autism and DISC1, one of the oldest candidate genes for psychiatric disorders.

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February 2010
News

Rare deletions on chromosome 16 tie autism to obesity

by  /  10 February 2010

Individuals who carry a large and rare deletion on chromosome 16 that is associated with autism are likely to have developmental delays, be obese or both, according to two studies published last week in Nature.

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News

Variants in trust hormone receptor up the risk for autism

by  /  1 February 2010

Genetic variations that tweak the brain’s release of oxytocin — a hormone involved in social bonding and establishing trust — may increase the risk of developing autism or traits of the disorder, according to three new studies published in the past few months.

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December 2009
News

Chemical messenger variant found in families with autism

by  /  16 December 2009

Scientists have for the first time found direct evidence that defects in the GABA receptor sometimes give rise to autism, according to research published 24 November in Molecular Psychiatry.

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