Genetic and Behavioral Analyses of the dFMR1 Pathway in Drosophila Peripheral Nervous System

Genetic and Behavioral Analyses of the dFMR1 Pathway in Drosophila Peripheral Nervous System

With a $160,000 grant from FRAXA Research Foundation from 2004-2006, Dr. Fen-Biao Gao and his team at the University of California studied the relationship between mRNA and FMRP.

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Transcriptional Regulation of the Fragile X Gene

Transcriptional Regulation of the Fragile X Gene

With a $60,000 in grant from FRAXA Research Foundation, Dr. Justin Fallon and his team at Brown University studied systematic mapping of Fragile X granules in developing mouse brains, revealing a potential role for presynaptic FMRP in sensorimotor functions.

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Pharmacologic Interventions in the Fmr1 KO Mouse

Pharmacologic Interventions in the Fmr1 KO Mouse

With $48,600 in grants from FRAXA Research Foundation over 2004-2006, Dr. Catherine Choi at Drexel University studied Fragile X knockout mice to determine future treatment targets for Fragile X syndrome in humans.

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Transgenic Mouse Models of Fragile X Syndrome

Transgenic Mouse Models of Fragile X Syndrome

With $736,000 in grants from FRAXA Research Foundation over 2000-2007, Dr. Robert Bauchwitz at Columbia University developed 15 transgenic mouse models of Fragile X syndrome, using them to evaluate a range of experimental treatments. Results published.

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Role of MicroRNAs in Fragile X Syndrome

Role of MicroRNAs in Fragile X Syndrome

With a $70,000 grant from FRAXA Research Foundation from 2004-2005, Drs. Thomas Tuschl and Neil Renwick and their team at Rockefeller University researched how FMRP interacts with miRNA in order to determine more effective treatment targets for Fragile X syndrome.

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Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

With $40,000 in funding from FRAXA Research Foundation in 2005, Dr. Karel Svoboda and his team at the Cold Spring Harbor Laboratory imaged neocortical circuits in Fragile X mice to determine the functions of the abnormal dendritic spines found in Fragile X syndrome.

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Fragile X Syndrome and RNAi

Fragile X Syndrome and RNAi

With a $75,000 grant from FRAXA Research Foundation from 2003-2004, Dr. Richard Carthew and his team at Northwestern University studied their interest in gene expression by investigating the role of the recently discovered process of interfering RNA (RNAi). FMRP appears to be involved in the metabolism of RNAi, and may have a role in regulating the process; likewise, deficits in RNAi may contribute to the disease process in Fragile X.

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Generating Human Neurons Carrying the Fragile X Mutation

Generating Human Neurons Carrying the Fragile X Mutation

With a $50,000 grant from FRAXA Research Foundation, Dr. Clive Svendsen and his team at the University of Wisconsin grew neural stem cells that expressed the Fragile X mutation to help scientists better understand the gene characteristics. 

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FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

With $89,000 from FRAXA Research Foundation over 2001-2005, Dr. David Bloom investigated gene therapy for Fragile X. The Bloom lab specializes in the development of gene therapy techniques, and they have succeeded in transferring the Fragile X gene (fmr1) into the brains of live mice, using viral vectors. They studied ways to enhance this process, with the ultimate goal of gene therapy for people with Fragile X.

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Dendritic Spine Formation and Fragile X

Dendritic Spine Formation and Fragile X

With a $35,000 grant from FRAXA Research Foundation in 2003, Dr. Jay Brenman and his team at the University of North Carolina utilized the fruit fly (Drosophila) to model disease and examined the fly model of Fragile X in an effort to understand the basic mechanisms of disease.

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DFXR and Synaptic Tagging in Drosophila (Fruit Flies)

DFXR and Synaptic Tagging in Drosophila (Fruit Flies)

With a $135,000 grant from FRAXA Research Foundation from 2001-2003, Dr. Jerry Yin and his team at the University of Wisconsin researched memory formation in Fragile X fruit flies. Dr. Yin started his Fragile X studies at Cold Spring Harbor Laboratory before moving to the Waisman Center.

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Understanding the Function of Fragile X Protein in Drosophila

Understanding the Function of Fragile X Protein in Drosophila

With a $105,000 grant from FRAXA Research Foundation from 2000-2003, Drs. Haruhiko Siomi and Mikko Siomi at Tokushima University researched approaches to characterize the Drosophila homolog of FMR1 and its associated molecules, and to identify molecular pathways that are involved in the cellular processes which are affected by the loss-of-function of Drosophila FMR1.

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FMR1 Repression and the Signals to Chromatin

FMR1 Repression and the Signals to Chromatin

With a $70,000 grant from FRAXA Research Foundation from 2001-2003, Dr. Assam El-Osta and his team at the Peter MacCallum Cancer Institute studied mechanisms of methylation dependent silencing of FMR1, as well as regulation by histone acetylation/deacetylation.

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The Molecular Basis of Increased Seizure Severity in the Fragile X Knockout Mouse

With a $50,000 grant from FRAXA Research Foundation from 2002-2003, Dr. Carl Dobkin and his team at the New York Institute for Basic Research studied the causes for heightened seizure activity in Fragile X mice. Results published.

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Treatment of a Mouse Model of Fragile X Syndrome with MPEP

Treatment of a Mouse Model of Fragile X Syndrome with MPEP

With a $49,000 grant from FRAXA Research Foundation in 2003, Dr. Linda Crnic at the University of Colorado continued studies of MPEP in Fragile X mice, exploring whether chronic use ameliorates symptoms of Fragile X syndrome without impairing cognitive function.

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Prospects For Gene Therapy in the Fragile X

With a $90,000 grant from FRAXA Research Foundation from 2000-2002, Dr. Mario Rattazzi at the New York State Institute for Basic Research explored gene therapy: ways to transfer the FMR1 gene across the blood-brain-barrier in normal rats and mice, and then in FMR1 knockout mice. Results published.

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Studies of glutamate receptor trafficking

Studies of glutamate receptor trafficking

Robert Malinow, PhD, Principal Investigator Julius Zhu, PhD, FRAXA Postdoctoral Fellow Cold Spring Harbor Laboratory   FRAXA Award: $35,000 in 2001 While he was a postdoctoral fellow in Dr. Malinow’s lab, Dr. Julius Zhu carried out experiments designed to define the set of proteins which are affected in Fragile X syndrome and understand how they function together. In 2002, Dr. Zhu started his own lab at the University of Virginia where he is continuing his Fragile X work with new funding from FRAXA. More information.

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