Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

With a $112,250 grant from FRAXA Research Foundation over 3 years, Dr. Efthimios Skoulakis and his team from the Institute of Cellular and Developmental Biology conducted the first FRAXA project in Greece, where they developed a speedy new test for learning problems in fruit flies, which allowed them to test a number of drugs that are potential Fragile X treatments.

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Results of First Fenobam Trial in Adults with Fragile X Published

Results of First trial of Fenobam in Adults with Fragile X Published in Major Journal We are pleased to announce the publication of positive results of a Phase IIa clinical trial of fenobam in Fragile X. Fenobam belongs to a class of compounds known as mGluR5 antagonists. Neuropharm, a specialty pharmaceutical company based in the U.K., received Orphan Drug Designation in the US in 2006 for fenobam in the treatment of Fragile X, after acquiring rights to relevant data on the compound from FRAXA. This trial was conducted in the US by Drs. Randi Hagerman of the UC Davis MIND Institute and Elizabeth Berry-Kravis of the RUSH University Medical Center, and initial results were first announced last summer. Their article in the Journal of Medical Genetics can be accessed free at: http://jmg.bmj.com/cgi/rapidpdf/jmg.2008.063701v1 Highlights of the Study: 1. This was a single dose open label study of fenobam in 6 maleRead more

Understanding the Mechanism of mGluR5

Understanding the Mechanism of mGluR5

With a $304,000 grant from FRAXA Research Foundation from 1996-2009, Dr. Ben Oostra and his team at Erasmus University have done multiple studies related to Fragile X syndrome, the most recent being a study of spine morphology. Drs. Oostra and deVrij studied miRNA and Fragile X. miRNAs are RNAs that can repress the translation of target mRNAs – therefore they can play a role in protein synthesis within the neuron. Preliminary results showed large differences in miRNA expression in the Fragile X mouse brain compared to the wild type. This lab investigated the effect of mGluR5 antagonists on the levels of these specific miRNAs. Results published.

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Involvement of the miRNA Pathway in Fragile X Syndrome

With a $304,000 grant from FRAXA Research Foundation over several years, Drs. Oostra and deVrij from Erasmus University studied miRNA and Fragile X. miRNAs are RNAs that can repress the translation of target mRNAs – therefore they can play a role in protein synthesis within the neuron. Preliminary results showed large differences in miRNA expression in the Fragile X mouse brain compared to the wild type. This lab investigated the effect of mGluR5 antagonists on the levels of these specific miRNAs.

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3 Researchers Honored at FRAXA Investigators Meeting

Three Researchers Honored at FRAXA 2008 Investigators Meeting Over 150 scientists from around the globe gathered in Durham, New Hampshire, for FRAXA Research Foundation's Investigators Meeting on September 21-24, 2008. They came from Australia, Canada, India, Turkey, the U.S., and eight European countries. Their common goal: "to share, collaborate and publish," in the words of FRAXA's Medical Director, Michael Tranfaglia, MD, to find effective treatments and a cure for Fragile X, the foremost inherited cause of mental retardation and autism. Most of the attendees were university-based professors, postdoctoral fellows, and graduate students who have FRAXA research grants. Also participating in the meeting were scientists from the National Institutes of Health (NIMH, NICHD, and NINDS), Neuropharm Group PLC, Hoffman LaRoche Inc., GlaxoSmithKline, Indevus, and Seaside Therapeutics, as well as 20 parents of Fragile X children. At the opening reception, FRAXA honored three investigators for taking extraordinary steps to advance research: FRAXARead more

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

With a $130,000 grant from FRAXA Research Foundation over 2008-2008, Drs. James Malter and Cara Westmark at the University of Wisconsin studied the relationship between the Fragile X protein FMRP and APP, a protein important to the pathology of Alzheimer’s Disease. APP may also contribute to the pathology of Fragile X, and its major metabolite, Aß, may contribute to abnormal protein synthesis via a positive feedback loop. This project sought to restore normal dendritic protein synthesis in Fragile X mice by breaking into this loop.

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