Genetics

Common Genetic Variants, Acting Additively, Are a Major Source of Risk for Autism

Source: 
Molecular Autism
Date Published: 
October 15, 2012
Abstract: 

Study finds that together, a large number of inherited, common genetic variations “of very small effect” can increase risk for autism. Suggests risk of inherited ASD is approximately 40% in simplex families and 60% in multiplex families.

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).

Progress in Identifying the Genetic Roots of Autism

Source: 
Wall Street Journal
Date Published: 
September 25, 2012
Abstract: 

Genetic tests are beginning to shed light on the causes of some autism spectrum disorders.

Experimental Drug may Treat Social Withdrawal Symptoms in Individuals with Fragile X Syndrome, the Most Common Known Genetic Cause of Autism.

Source: 
Science Translational Medicine
Date Published: 
September 19, 2012
Abstract: 

Arbaclofen, also known as STX209, shows promise in its treatment of social symptoms associated with fragile x syndrome.

Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

Source: 
Science
Date Published: 
September 13, 2012
Abstract: 

A new study finds that faulty neuronal circuits in autistic brains can be corrected even after the “critical window” of brain development.

“Junk” DNA Holds Clues to Cancer, Autism

Source: 
Scientific American
Date Published: 
September 6, 2012
Abstract: 

With the latest annotation of the human genome, researchers have made new discoveries about common diseases

Supplemental Material Blood-Based Gene Expression Signatures of Infants and Toddlers With Autism

Source: 
Journal of the American Academy of Child & Adolescent Psychiatry
Date Published: 
September 2012
Abstract: 

Dr. Eric Courchesne recently published his work he previewed at this year's IMFAR in the "Journal of the American Academy of Child & Adolescent Psychiatry."

The mRNA expression abnormalities reliably observed in peripheral blood mononuclear cells, which are safely and easily assayed in infants, offer the first potential peripheral blood–based, early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate whether they may also serve as indirect indices of deviant molecular neural mechanisms in autism.

Research shows gene defect's role in autism-like behavior

Source: 
PLoS ONE
Date Published: 
August 13, 2012
Abstract: 

Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for drugs to treat the condition.

Scientists Track Adult Regression in Autism-Related Syndrome

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
July 26, 2012
Abstract: 

Scientists track adult regression in Phelan-McDermid Syndrome, which is one of the autism-related syndromes with an identified genetic basis.

Mutations in Autism Susceptibility Gene Increase Risk in Boys

Source: 
Emory University School of Medicine
Date Published: 
July 12, 2012
Abstract: 

Emory University researchers identify mutations in an autism susceptibility gene that may explain why autism spectrum disorders affect four times as many boys as girls.