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Spectrum: Autism Research News

Tag: rare variants

August 2011

Attention deficit, autism share genetic risk factors

by  /  22 August 2011

Some of the same genetic risk factors may underlie both autism and attention deficit hyperactivity disorder, according to a study published 10 August in Science Translational Medicine.

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X-linked variants may up autism, schizophrenia risk

by  /  3 August 2011

The first study to sequence more than 100 genes on the X chromosome in people with autism or schizophrenia has turned up some promising leads.

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June 2011

Genetic roadmap

by  /  28 June 2011

Sequencing an individual’s entire genome may be the key to tailoring treatments for heterogeneous disorders, suggests a study published 15 June in Science Translational Medicine.

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Diagnostic tests for autism may miss many girls

by  /  27 June 2011

The symptoms of Asperger syndrome look slightly different in girls than in boys, according to a new study. However, gender differences in autism are poorly understood, and the results are preliminary, say other researchers.

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Studies find high rate of rare new mutations in autism

by  /  8 June 2011

Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.

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Solving the complex causes of a multi-hit disorder

by ,  /  7 June 2011

What’s known about the genetics of autism supports the ‘snowflake’ hypothesis — that the molecular underpinnings of disease are essentially unique from individual to individual — says human geneticist Brett Abrahams.

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May 2011

Molecular mechanisms: Gene linked to autism and epilepsy

by  /  25 May 2011

Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.

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Molecular mechanisms: Autism candidate recycles neurotoxin

by  /  4 May 2011

An autism-associated gene variant of glyoxalase 1, or GLO1, leads to the buildup of a compound that is toxic to neurons, according to a study published 12 April in Autism Research.

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April 2011

Genetics: Autism inherited from healthy parents

by  /  29 April 2011

Two rare, unlikely and inherited mutations in the same gene may together have contributed to a case of autism, according to a study published 23 March in Molecular Psychiatry. The results suggest that the gene, DIAPH3, is a new candidate for autism risk.

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Genetics: Small chromosome changes are rare, inherited

by  /  13 April 2011

Small duplications or deletions of DNA regions — called micro-copy number variations — may not lead directly to disease, but could raise the risk of autism when combined with other mutations, according to a study published in March in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

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