Genetics

Progress in Identifying the Genetic Roots of Autism

Submitted by djohnson on September 25, 2012 - 08:14
Source: 
Wall Street Journal
Link: 
http://online.wsj.com/article/SB10000872396390444813104578016280501020620.html
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.

Submitted by djohnson on September 20, 2012 - 13:44
Source: 
Science Translational Medicine
Link: 
Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial
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

Submitted by djohnson on September 17, 2012 - 15:06
Source: 
Science
Link: 
http://www.sciencemag.org/content/early/2012/09/12/science.1224159
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

Submitted by TConnolly on September 11, 2012 - 11:11
Source: 
Scientific American
Link: 
http://www.salon.com/2012/09/06/junk_dna_holds_clues_to_cancer_autism/
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

Submitted by dawnacrawford on September 4, 2012 - 09:48
Source: 
Journal of the American Academy of Child & Adolescent Psychiatry
Link: 
http://www.sciencedirect.com/science/article/pii/S0890856712005059
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

Submitted by dawnacrawford on August 13, 2012 - 14:06
Source: 
PLoS ONE
Link: 
http://www.eurekalert.org/pub_releases/2012-08/uoc--rsg080912.php
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

Submitted by mrolison on July 30, 2012 - 12:55
Source: 
Simons Foundation Autism Research Initiative
Link: 
http://sfari.org/news-and-opinion/conference-news/2012/phelan-mcdermid-syndrome-foundation-2012/scientists-track-adult-regression-in-autism-related-syndrome
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

Submitted by dawnacrawford on July 17, 2012 - 08:53
Source: 
Emory University School of Medicine
Link: 
http://www.sciencedaily.com/releases/2012/07/120712092616.htm
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.

Vanderbilt University Researchers Examine Oxytocin and Serotonin Systems as Biomarkers for Autism

Submitted by mrolison on June 25, 2012 - 08:41
Source: 
http://www.ncbi.nlm.nih.gov/pubmed/22721594.1
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22721594.1
Date Published: 
May 26, 2012
Abstract: 

Vanderbilt University researchers examine oxytocin and serotonin systems as biomarkers for autism spectrum disorders.

Seizures in Angelman Syndrome Could be Linked to an Imbalance in Brain Activity

Submitted by mrolison on June 8, 2012 - 10:28
Source: 
UNC School of Medicine
Link: 
http://news.unchealthcare.org/news/2012/june/brain-cell-activity-imbalance-may-account-for-seizure-susceptibility-in-angelman-syndrome
Date Published: 
June 6, 2012
Abstract: 

Researchers led by Dr. Ben Philpot, an ASF funded mentor, at UNC School of Medicine found that seizures in individuals with Angelman syndrome could be linked to an imbalance in brain cell activity. Angelman syndrome exhibits frequent comorbidity with autism spectrum disorders.