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Spectrum: Autism Research News

Tag: whole-genome sequencing

November 2010

Decoding the exome points to new autism genes

by  /  16 November 2010

Sequencing the exomes — regions of the genome that code for proteins — of 18 individuals with autism has revealed new candidate genes for the disorder, researchers reported Sunday at the Society for Neuroscience annual meeting in San Diego.

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Utah pedigree study pegs chromosome 15 for autism risk

by  /  10 November 2010

Chromosome 15 may harbor one or more risk genes for autism, according to a new study of multigenerational inheritance in Utah. Researchers have gathered data on family pedigrees stretching back as far as nine generations, with up to five family members affected by the disorder.

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October 2010

Genetics: Database of 2,000 families with autism debuts

by  /  29 October 2010

The Simons Simplex Collection (SSC), a database of genetic and clinical information from families that include one child with autism, has gathered data from more than 2,000 different families, researchers report in the October issue of Neuron.

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New technique maps mutation-rich regions

by  /  28 October 2010

Researchers have mapped unique identifiers in the regions around human genes that are at risk for duplication or deletion, allowing precise sequencing of nearly 1,000 genes for the first time, according to a paper published today in Science.

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September 2010

Genetics: De novo mutation rate higher in autism

by  /  30 September 2010

Spontaneous harmful mutations are more frequent in individuals with autism and schizophrenia, according to two studies published in September.

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Genetics: Common mutation linked to risk of mental disorders

by  /  27 September 2010

A common variation within a region on chromosome 16 puts a large proportion of the general population at risk for intellectual disability, according to a study published in August in Nature Genetics.

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August 2010

Risky secrets

by  /  30 August 2010

For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?

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Groups aim to recruit more racial minorities for genetic studies

by  /  6 August 2010

Racial minorities are under-represented in genetic studies, in part because research guidelines do not account for differences in family structure, according to a report based on statistics from several autism gene banks. In response to the report, research teams at Stanford University and the University of California, Los Angeles, are revamping their recruitment practices.

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April 2010

Future of autism genetics is all in the family

by  /  30 April 2010

Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.

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Scientists finger neurexin 1 defects in autism

by  /  20 April 2010

Several studies in the past year in people, mice and honeybees have tied autism to a protein that helps neurons communicate. Problems with the protein, neurexin 1, are associated with a wide range of autistic behaviors, such as impaired social interactions, anxiety and problems with learning and memory.

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