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Spectrum: Autism Research News

Tag: SNPs

August 2013

Genetics: Methyl groups on DNA modify Rett symptoms

by  /  20 August 2013

Methylation — modifications to DNA that regulate gene expression — may explain why identical twins with the same Rett syndrome mutation have different symptoms, according to a study published 21 June in PLoS One.

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Subgroups improve genetic analysis of autism

by  /  14 August 2013

Researchers can increase the power of studies that link genetic variants to autism by factoring in potential subgroups of the disorder, according to a report published 26 June in PLoS One.
 

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July 2013

Genetics algorithm reveals mosaic mutations

by  /  10 July 2013

A new software tool detects chromosomal alterations present in only a subset of cells in the body. This method, described 31 May in BMC Genomics, may help reveal mosaicism’s contribution to neurological disorders.

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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

Analysis probes literature for autism-linked gene culprits

by  /  26 June 2013

By combining bioinformatics techniques with an analysis of gene expression, researchers have identified 30 candidate genes for autism, according to a study published 28 May in Translational Psychiatry.

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April 2013

Slicing the genetic pie

by ,  /  5 April 2013

Jason Stein and Daniel Geschwind analyze how different types of genetic variation contribute to autism risk.

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March 2013

Promise and pitfalls of induced stem cells for autism

by ,  /  26 March 2013

Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.

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Rho family of enzymes at crossroads of autism

by  /  12 March 2013

A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.

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January 2013

Autism-linked protein differs in male and female brains

by  /  24 January 2013

The autism-linked protein MET is expressed at lower levels in the brains of men with autism than in control brains, according to unpublished research presented Thursday at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California. Women with autism do not differ from healthy controls, however.

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Genetics: Intellectual disability traced to new mutations

by  /  18 January 2013

Spontaneous, or de novo, mutations are present in about half of individuals with severe intellectual disability who do not have large genetic disruptions, according to two sequencing studies published in November.

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