Genomics

Using Large Clinical Data Sets to Infer Pathogenicity for Rare Copy Number Variants in Autism Cohorts

Source: 
Molecular Psychiatry
Date Published: 
October 9, 2012
Abstract: 

Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case–control analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles).

UCLA Study Uncovers New Tools for Targeting Genes Linked to Autism

Source: 
http://www.eurekalert.org/pub_releases/2012-06/uoc--usu061912.php
Date Published: 
June 21, 2012
Abstract: 

UCLA researchers compare the genes of children with autism and their typically-developing siblings to better understand the role of gene expression in the development of autism.

Researchers at MIT Use Zebrafish to Better Understand the Genetics of Autism

Source: 
http://www.sciencedaily.com/releases/2012/06/120619103618.htm
Date Published: 
June 19, 2012
Abstract: 

Researchers at MIT use zebrafish to better understand the genetics of autism.

Synaptic Mutations Increase The Risk Of Autism Spectrum Disorders

Source: 
Medical News Today
Date Published: 
February 13, 2012
Abstract: 

A new study published in PLoS Genetics uses a combination of genetic and neurobiological approaches to confirm that synaptic mutations increase the risk of autism spectrum disorders (ASDs) and underlines the effect for modifier genes in these disorders.

Scientists Link Evolved, Mutated Gene Module to Syndromic Autism

Source: 
Science Daily
Date Published: 
January 26, 2012
Abstract: 

A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.

NIMH’s Top 10 Research Advances of 2011

Source: 
NIMH
Date Published: 
December 23, 2011
Abstract: 

Director of the NIMH Dr. Tom Insel shares the NIMH's Top 10 Research Advances for 2011.

TBL1X Gene Involved In Autism Spectrum Disorder

Source: 
Medical News Today
Date Published: 
November 6, 2011
Abstract: 

TBL1X Gene Involved In Autism Spectrum Disorder: Dr. Eden Martin from the Hussman Institute explains, "The SNP in TBL1X is associated with an increase in risk for ASD of about 15%.

Autism Spectrum Disorder Linked to Genetic Synaptic Behaviors

Source: 
Medical News Today
Date Published: 
April 21, 2011
Abstract: 

It seems that the place where your brain transfers electricity between synapses and how your genes determine how these processes function, are tied to autism in one way or another. There can be genetically driven disturbances in this process that lead to varying levels of autism according to a new study of DNA from approximately 1,000 autistic children and their kin.

Gene Linked to Severity of Autism's Social Dysfunction Identified

Source: 
Science Daily
Date Published: 
April 7, 2011
Abstract: 

With the help of two sets of brothers with autism, Johns Hopkins scientists have identified a gene associated with autism that appears to be linked very specifically to the severity of social interaction deficits. The gene, GRIP1 (glutamate receptor interacting protein 1), is a blueprint for a traffic-directing protein at synapses -- those specialized contact points between brain cells across which chemical signals flow.

A Genotype Resource for Postmortem Brain Samples from the Autism Tissue Program

Source: 
Autism Res, Wintle et al.
Date Published: 
April 2011
Year Published: 
2011

The Autism Tissue Program (ATP) is a postmortem brain tissue program created by the National Alliance for Autism Research (NAAR) for the purpose of supplying research scientists with neurological tissue samples of deceased Autistic individuals. Scientists, however, are not supplied with tissue samples from any other parts of the deceased individual, leading to frustration over genotype/phenotype verification. In this study, scientists from the Hospital for Sick Children in Toronto verify the ethnicity and gender of a certain sample, and provide an algorithmic verification system for other researchers looking to provide accurate research into the genotype/phenotype makeup of their sample.