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Spectrum: Autism Research News

Tag: whole-exome sequencing

May 2013

Scientists home in on key spot in brain for autism risk

by  /  4 May 2013

By analyzing the expression patterns of nine candidate genes for autism, researchers have identified a population of cells and a select time during fetal development that may be key to the disorder.

April 2013

Genetics: Gene variants modulate Rett symptoms

by  /  30 April 2013

A single gene mutation leads to Rett syndrome, but other variants may modify the severity of an individual’s symptoms, according to a study published 28 February in PLoS One.


Slicing the genetic pie

by ,  /  5 April 2013

Jason Stein and Daniel Geschwind analyze how different types of genetic variation contribute to autism risk.

March 2013

Promise and pitfalls of induced stem cells for autism

by ,  /  26 March 2013

Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.


Scientists hunt for ‘mini’ hotspots linked to autism

by  /  4 March 2013

Small regions of DNA that are structurally prone to deletions and duplications are unlikely to play a major role in autism, according to research published 7 February in the American Journal of Human Genetics.

January 2013

Network of protein variants suggests new autism genes

by  /  25 January 2013

Researchers have created a network of various forms of many proteins linked to autism, revealing new molecular interactions that may play a role in the disorder. The unpublished work was presented in a poster last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.


Sequencing studies implicate inherited mutations in autism

by  /  23 January 2013

Rare, inherited mutations contribute to a significant proportion of autism cases, helping to explain the heritability of the disorder, according to two new studies published today in Neuron.


Study links autism to genomic ‘hotspots’ of mutation

by  /  21 January 2013

The genome appears to be littered with so-called ‘hotspots,’ areas that are prone to single-letter mutations, according to research published 21 December in Cell.


Genetics: Intellectual disability traced to new mutations

by  /  18 January 2013

Spontaneous, or de novo, mutations are present in about half of individuals with severe intellectual disability who do not have large genetic disruptions, according to two sequencing studies published in November.


Studies hint at promise for blood-based autism biomarkers

by  /  14 January 2013

Gene expression changes measured in blood may help differentiate children with autism from those without the disorder, suggest two studies published in the past few months.