Skip to main content

Spectrum: Autism Research News

Tag: 22q11

October 2015

Sequencing studies sharpen focus on key autism genes

by  /  1 October 2015

Two studies prioritize autism risk genes for further research and illuminate how different types of mutations may work together.

June 2015

Common glitches in chromosomes can cause cognitive problems

by  /  18 June 2015

More than 10 percent of people carry deletions or duplications of DNA that diminish their intellectual capacity. The findings, based on a large study of an Estonian population, suggest that the bigger the mutation, the more severe a person’s cognitive deficits.

1 Comment
February 2015

Rising Star: Sergiu Pasca, scientist at play

by  /  19 February 2015

Sergiu Pasca was among the first to model autism with neurons from affected individuals, a feat that could reveal the biochemical roots of some forms of autism.

September 2014

Questions for Lawrence Reiter: Extracting clues from teeth

by  /  9 September 2014

Neurologist Lawrence Reiter is growing neurons from the discarded teeth of children with neurological syndromes. Here he describes how dental pulp may help researchers find the genes and pathways that underlie autism symptoms.

March 2014

Algorithm uncovers autism syndromes’ fingerprints

by  /  6 March 2014

An artificial-intelligence algorithm designed to analyze behavior has learned to recognize six genetic disorders associated with autism, according to a report published 11 February in Molecular Autism. The algorithm could be used to hone the search for autism’s genetic underpinnings.

1 Comment
January 2014

Duplication of chromosome 22 region thwarts schizophrenia

by  /  2 January 2014

Carrying a duplication of the 22q11.2 chromosomal region may protect against schizophrenia, suggests a study published 12 November in Molecular Psychiatry. This is the first evidence of a genetic region that lowers the risk of a disorder rather than increases it.

November 2013

Studies on 22q11.2 region link genes, circuits, behavior

by  /  10 November 2013

Deletion of a gene in 22q11.2, a chromosomal region linked to autism and schizophrenia, leads to small head size in mice, according to research presented Saturday at the 2013 Society for Neuroscience annual meeting in San Diego. Mice with a large deletion in this region show disrupted brain connections, and struggle with learning and memory.

September 2013

In autism-related disorders, RNA turns out to be key

by  /  26 September 2013

An enzyme that may keep RNA tangle-free as it’s translated into protein is missing in some people with schizophrenia and learning difficulties. The enzyme also cooperates with the protein missing in fragile X syndrome to bind RNA, suggesting a role in protein synthesis. That’s the upshot from two studies published in the September Nature Neuroscience.

1 Comment

Genetics: Williams risk region linked to schizophrenia

by  /  17 September 2013

The same genetic region that is missing in people with Williams syndrome is likely to be duplicated in some people with schizophrenia, according to a study published 17 July in Biological Psychiatry.


Iceland study characterizes autism-linked genetic regions

by  /  11 September 2013

Duplications and deletions of large chromosomal regions are associated with intellectual disability, cognitive deficits and a low likelihood of having children, according to a population-wide study in Iceland. The results were presented Monday at a conference in Cambridge, Massachusetts.