Skip to main content

Spectrum: Autism Research News

Tag: rare variants

July 2013

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.

2 Comments
June 2013

Rare, common variants together boost gene analysis

by  /  5 June 2013

A new statistical method for linking genes to a disorder analyzes both rare and common variants of a gene at the same time, according to a study published 14 May in the American Journal of Human Genetics. This makes it possible to confirm associations that other techniques might overlook.

0 Comments
May 2013

Networking tips

by  /  28 May 2013

It is possible to discover relationships between autism genes simply by reanalyzing existing datasets, says Alan Packer.

1 Comment

Genetics: Common genomic duplications enriched in autism

by  /  28 May 2013

Children with autism have more copies of some chromosomal regions than controls do, according to a study published 19 April in Human Molecular Genetics. This is true even after excluding the regions that are the most likely to lead to autism.

0 Comments

Simon Fisher: Hunting on the FOXP2 trail

by  /  20 May 2013

Simon Fisher made headlines in 2001 for finding the first gene related to language. He has been following FOXP2 ever since, and has found that it is important in autism and other psychiatric disorders.

2 Comments
February 2013

Genetics: Link between melatonin and autism remains elusive

by  /  15 February 2013

Some Chinese individuals with autism have rare mutations that may disrupt the production of melatonin, the hormone that regulates sleep, according to a study published 17 January in PLoS One.

0 Comments
January 2013

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.

0 Comments

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.

0 Comments

Newer mutations more likely to lead to disorders

by  /  9 January 2013

Of the thousands of DNA variants linked to autism, those that evolved later are the most likely to be harmful, according to a study published 28 November in Nature.

1 Comment
December 2012

Genetics: Searching for answers

by  /  6 December 2012

Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.

0 Comments