Skip to main content

Spectrum: Autism Research News

Tag: copy number variation

April 2011

Seeking counsel

by  /  5 April 2011

Practical and ethical challenges in translational research could be better overcome if clinical researchers were to add genetic counselors to their teams, a new report argues.

Comments
March 2011

Prenatal tests for autism mutations pose ethical dilemmas

by  /  31 March 2011

Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.

Comments

Genetics: Parkinson’s disease gene linked to autism

by  /  30 March 2011

Two children with Asperger syndrome have disruptions in the PARK2 gene — one child has a duplication in the gene whereas the other has a deletion — according to a study published in February in the American Journal of Medical Genetics.

Comments

Genetics: Small duplications identify new schizophrenia gene

by  /  29 March 2011

A neurotransmitter called VIPR2, or vasoactive intestinal peptide receptor, is a candidate gene for schizophrenia and, potentially, autism, according to a study published in February in Nature.

Comments

Genetics: Cell communication pathway linked to autism

by  /  16 March 2011

Mutations in a gene that organizes synapses — the junctions between neurons — may increase the risk of autism, according to a study published in February in Autism Research. The study bolsters evidence linking a pathway involved in cell-to-cell communication to autism.

Comments

Postmortem brains hold sequencing potential

by  /  16 March 2011

Researchers have extracted and sequenced DNA from 52 postmortem brains from the Autism Tissue Program, providing a resource to study mutations and gene expression differences in the brains of people with the disorder.

Comments
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.

Comments

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.

Comments

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.

Comments

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.

Comments