Synaptic Actin Signaling Pathways in Fragile X

With a $163,356 grant from FRAXA Research Foundation in 2010-12, Dr. Scott Soderling and Dr. Hwan Kim at Duke University bred the standard mouse model of Fragile X syndrome to their lines of mice that express reduced levels of several key proteins that modulate synaptic actin. These compound mutant mice were compared to FXS mice to determine if genetically impairing pathways to the actin cytoskeleton can rescue deficits in the FXS mice.

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Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

Andreas Frick, PhD

With this two year award of $90,000, Dr. Zhang and Principal Investigator Dr. Andreas Frick at Neurocentre Magendie in France investigated channelopathies using Fragile X mice. Many other proteins are misregulated as a result of the absence of FMRP. It is known that many ion channels, the pores in the cell membrane which allow neurons to conduct electrical impulses, have altered levels in Fragile X. This state is sometime called a “channelopathy” in the pharma world. This group is studying the effect of specific alterations in ion channels, and potential therapeutic effects of drugs which open and close these channels.

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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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Fragile X Research Grants and Fellowships Funded 2011

In 2011, FRAXA awarded $1,054,286 in Fragile X Research. Each year FRAXA holds a competition to find – and fund – the most promising new projects aimed at discovering targeted, effective treatments – and ultimately a cure – for Fragile X and related autism spectrum disorders. Each team has a page on this website with details. Our competitive grant-making process ensures that the best and most innovative research gets supported, that new scientists join the Fragile X field, and most important – that we get closer to a cure. FRAXA aims to advance the kind of translational research that is most likely to lead to improved treatment.

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Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice

With a $90,000 grant from FRAXA Research Foundation, Dr. Hongbing Wang’s team from Michigan State University looked at a treatment target “downstream” of the mGluR5 called cyclic AMP (cAMP). Levels of cAMP are lower in FXS patients and animal models, suggesting that it plays a role in FXS. Drugs that raise levels of cAMP may effectively treat Fragile X. We are very pleased to report that, in 2012, Dr. Wang received a 5-year, $250,000 per year R01 grant from NIH to continue this promising research.

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GABAergic Inhibitory Function in Fragile X Syndrome

With a $100,000 grant from FRAXA Research Foundation, Drs. Joshua Corbin and Molly Huntsman from the Children’s National Medical Center examined the role of a particular class of brain cells (inhibitory interneurons) that dampen excessive activity in the “emotional center of the brain” (the amydala). This inhibition is deficient in Fragile X, and so they are looking for ways to remedy this. This is particularly interesting to parents of children who are overly anxious and emotional. They worked with Dr. Walter Kaufmann, a clinician at Kennedy Krieger Institute in Maryland.

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Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

Joel Richter, PhD

The Richter lab is the foremost research group in the world in the study of CPEB, a protein critical for regulation of protein synthesis. With $170,000 in grants from FRAXA Research Foundation over 2008-2011, Dr. Joel Richter of the University of MA Medical School explored whether inhibitions of the CPEB may be a viable approach for treatment of Fragile X.

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FRAXA 2010 Research Awards Funded

Program Grants and new Postdoctoral Fellowships total over $1.5 million this year. We are very pleased to announce FRAXA 2010 awards. Projects can be viewed at the Research Reports section of this website. These scientists have demonstrated outstanding potential of their FRAXA projects in detailed applications. We aim to help them work toward new treatments for Fragile X. Their projects are at the cutting edge of biomedical technology, and we believe that their work will make a real difference to everyone affected by Fragile X.

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Reactivation of the FMR1 Gene

With a $50,000 grant from FRAXA Research Foundation, Dr. Giovanni Neri and his team at Universita Cattolica del S. Cuore screened compounds with Neuropharm (UK) for reactivating compounds. This team is collaborating with Dr. Stephen Haggarty at Harvard and MIT (who also has a FRAXA grant), researching reactivation of the FMR1 gene and characterization of cell lines with unmethylated full mutations. Results published.

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Small Molecule Screen Using Fragile X Neural Stem Cells

With a $90,000 grant from FRAXA Research Foundation, Dr. Peng Jin’s team from Emory University School of Medicine found that Fragile X causes an increase production of new cells, so they tested large numbers of drugs to find those that can correct this. This high throughput drug screen uses neural stem cells from Fragile X knockout mice to identify small molecules which may be therapeutic in Fragile X.

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