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Tag: genetic testing

May 2014
News

Clinical research: Angelman gene variants alter symptoms

by  /  30 May 2014

The nature of the mutation that leads to Angelman syndrome — a disorder characterized by speech impairment and developmental delays — affects the disorder’s presentation, reports a study published 19 March in Research in Developmental Disabilities.

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February 2014
News

First 1,000 days of life could hold keys to autism

by  /  17 February 2014

Autism researchers have high hopes for a new project called the First 1,000 Days of Life, which aims to follow 5,000 women and their babies from pregnancy through two years after birth.

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January 2014
News

Spontaneous and rare mutations are key in schizophrenia

by  /  30 January 2014

Spontaneous and rare mutations, particularly in genes related to networks that regulate neuronal connections, contribute a small but significant proportion of the risk for schizophrenia, report two large studies published online 22 January in Nature.

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October 2013
Opinion

Slippery SNPs

by  /  29 October 2013

A new analysis strikes down a widely reported study from last year, which claimed that a panel of 237 genetic markers predicts autism.

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September 2013
Opinion

Fragile facts

by  /  13 September 2013

Fragile X syndrome is the leading cause of inherited intellectual disability and often autism, but most people who work with special-needs children lack basic knowledge about the syndrome, according to a new study.

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August 2013
News

Genetics: Genes near Williams region linked to autism traits

by  /  23 August 2013

Genes near the chromosomal region implicated in Williams syndrome are involved in epilepsy and autism-like behaviors, according to a study published 12 June in the European Journal of Human Genetics.

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News / Toolbox

Genetic test highlights autism-linked chromosome blips

by  /  7 August 2013

A new clinical test for duplications or deletions of chromosomal regions is customized to detect more than 380 known changes, including many that are linked to autism. The method was published 24 June in the American Journal of Medical Genetics Part A.

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July 2013
News

Study catalogs features of Phelan-McDermid syndrome

by  /  11 July 2013

The majority of people lacking a functional copy of the SHANK3 gene have both autism and severe intellectual disability, according to a study published 11 June in Molecular Autism.

3 Comments
News

Clinics unroll genome tests for undiagnosed disorders

by  /  8 July 2013

Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.

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June 2013
News

Genetics: Variants in chromosome 16 region show male bias

by  /  25 June 2013

Males, but not females, with neurodevelopmental disorders such as autism are more likely to have deletions or duplications in the 16p13.11 chromosomal region than controls are, according to a study published 18 April in PLoS One.

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