Genetics

Scientists Home in on Autism Candidate Gene’s Role in Brain

Source: 
SFARI
Date Published: 
November 26, 2012
Abstract: 

Four new studies of neuroligin-1 (NLGN1), a gene linked to autism, unravel its complex role in regulating synapses, the connections between neurons.

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Source: 
Science
Date Published: 
November 15, 2012
Abstract: 

De novo mutations in six genes may contribute to 1% of simplex ASD cases.

Nature Outlook: Autism Now Available Online

Source: 
Nature
Date Published: 
October 31, 2012
Abstract: 

Sponsored in part by ASF, the new Nature Outlook supplement on autism features articles on genetics, adulthood, brain imaging, diagnosis and more.

Family History of Schizophrenia and Bipolar Disorder as Risk Factors for Autism

Source: 
Archives of General Psychiatry
Date Published: 
July 2, 2012
Abstract: 

Researchers discuss the association between schizophrenia, bipolar disorder and ASD, and suggest the conditions share etiologic factors. Family history of schizophrenia or bipolar disorder was associated with increased ASD risk across three data sets. Individuals with schizophrenic siblings were 12 times more likely to have autism compared to those with no family history of schizophrenia.

Postmortem Brain Analysis Points to Autism Candidate Genes

Source: 
SFARI
Date Published: 
October 16, 2012
Abstract: 

Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvard’s freezer malfunction.

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.