Fragile X

FMRP Targets Distinct mRNA Sequence Elements to Regulate Protein Expression

Source: 
Nature
Date Published: 
December 12, 2012
Abstract: 

Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.

Next-Generation Treatments for Fragile X Syndrome

Source: 
Science Daily
Date Published: 
November 29, 2012
Abstract: 

Researchers from University of Catania discover a possible new strategy for treating Fragile X syndrome.

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.

Cognition and behavior: Fragile X Carriers Show Autism Signs

Source: 
Simons Foundation Austism Research Initiative
Date Published: 
July 27,2012
Abstract: 

According to a study published in the American Journal of Medical Genetics, Women who have a milder version of the fragile X mutation, which can lead to the full mutation in their children, have some features of autism.

Roche and Seaside Therapeutics Enter Alliance to Develop Pharmacological Treatments for Autism

Source: 
http://www.marketwatch.com/story/roche-seaside-to-research-autism-treatments-2012-06-19?reflink=MW_news_stmp
Date Published: 
June 19, 2012
Abstract: 

Roche and Seaside Therapeutics have entered an alliance to develop pharmacological treatments for autism spectrum disorders and Fragile X Syndrome.

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

Source: 
UNC School of Medicine
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.

Special Report: New Drugs, Fresh Hope for Autism Patients

Source: 
Reuters
Date Published: 
May 31, 2012
Abstract: 

Researchers are conducting advanced trials of the first drugs expressly designed to correct the genetically induced signaling problems in the brain that result in autism. The early indications are positive enough to offer new hope for families and spark interest from drug companies.

Researchers are conducting advanced trials of the first drugs expressly designed to correct the genetically induced signaling problems in the brain that result in autism. The early indications are positive enough to offer new hope for families and spark interest from drug companies.

Clinical trials of new treatments for Fragile X are accepting participants

Source: 
FRAXA Research Foundation
Date Published: 
March 22, 2012
Abstract: 

Experimental new drugs, AFQ056 (an mGluR5 antagonist from Novartis) and STX209 (arbaclofen from Seaside Therapeutics) are in large scale trials.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Source: 
Medical News Today
Date Published: 
November 25, 2011
Abstract: 

In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.