Catherine Choi, Drexel University, FRAXA research grant

Pharmacologic Interventions in the Fmr1 KO Mouse

With $48.6K from FRAXA, Dr. Catherine Choi at Drexel studied Fragile X knockout mice to identify potential treatment targets.

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Stephanie Ceman, PhD, at University of Illinois at Urbana-Champaign, FRAXA research grant

FMR Expression in Zebra Finch

With $18.5K from FRAXA, Dr. Stephanie Ceman at Illinois used zebra finches to study how Fragile X affects speech and vocal learning. Results published.

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Robert Bauchwitz, MD, PhD, at Columbia University, FRAXA research grant

Transgenic Mouse Models of Fragile X Syndrome

With $736K from FRAXA, Dr. Bauchwitz built 15 Fragile X mouse models at Columbia to test and publish results on new treatments.

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Composition and Dynamics of FMRP-Containing RNP Complexes

A $30K FRAXA grant helped Dr. Barbara Bardoni at INSERM, France, explore the biochemistry and function of the Fragile X protein.

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Thomas Tuschl, PhD, at Rockefeller University, FRAXA research grant

Role of MicroRNAs in Fragile X Syndrome

A $70K FRAXA grant helped Drs. Thomas Tuschl and Neil Renwick study FMRP–miRNA links to identify better treatment targets for Fragile X.

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Karel Svoboda, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

With $40K from FRAXA, Dr. Karel Svoboda at Cold Spring Harbor imaged brain circuits in Fragile X mice to study abnormal dendritic spines.

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Vladimir Gelfand, PhD, at Northwestern University, FRAXA research grant

Transport, Anchoring and Translation of FMRP-Associated mRNAs

FRAXA’s $40K grant supported Dr. Vladimir Gelfand’s Northwestern team in exploring links between mGluR, mRNA, and FMRP.

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Andre Hoogeveen , PhD

Reactivating the FMR1 Gene

With $171.6K from FRAXA, Dr. Andre Hoogeveen’s Erasmus team developed methods to reactivate the Fragile X gene, advancing curative research.

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Holly Cline, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

FMRP Function in the Xenopus Visual System

With $75K from FRAXA, Dr. Holly Cline at Cold Spring Harbor studied Fragile X proteins and mRNA regulation in tadpoles.

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Fragile X Syndrome and RNAi

With $75K from FRAXA, Dr. Richard Carthew at Northwestern studied how RNA interference (RNAi) and FMRP interact in Fragile X.

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Clive Svendsen, PhD, at University of Wisconsin, FRAXA research grant

Generating Human Neurons Carrying the Fragile X Mutation

FRAXA’s $50K grant supported Dr. Clive Svendsen at Wisconsin in growing Fragile X stem cells to better understand gene characteristics.

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Edouard Khandijian, PhD, at Laval University, FRAXA research grant

Xenopus (Frog) Model System of Fragile X and Related Proteins

With $50K from FRAXA, Dr. Edouard Khandjian at Laval University studied FMR1 and related genes FXR1 and FXR2 in frog models of Fragile X.

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Fruit Fly Helps Reveal the Secrets of Fragile X

FRAXA’s $50K grant supported Dr. Bassem Hassan’s Flanders team in using fruit flies to model Fragile X and guide future therapy studies.

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Kenneth J. Mack, MD, PhD, at Mayo Clinic, FRAXA research grant

Role of Experience in Regulating Levels of the Fragile X Protein

With $49K from FRAXA, Drs. Mack and Todd studied how brain stimulation changes FMRP levels, deepening Fragile X research insight.

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David Bloom, PhD, at University of Florida, FRAXA research grant

FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

With $89K from FRAXA, Dr. David Bloom’s team advanced Fragile X gene therapy by transferring the fmr1 gene into mouse brains via viral vectors.

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Jay Brenman, PhD, at University of North Carolina, FRAXA research grant

Dendritic Spine Formation and Fragile X

With $35K from FRAXA, Dr. Jay Brenman at UNC used fruit fly models to study Fragile X and uncover key disease mechanisms.

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Jerry Yin, PhD, at University of Wisconsin, FRAXA research grant

DFXR and Synaptic Tagging in Drosophila (Fruit Flies)

FRAXA’s $135K grant supported Dr. Jerry Yin’s Fragile X fruit fly studies on memory formation at Wisconsin’s Waisman Center.

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Haruhiko Siomi, PhD, at Tokushima University, FRAXA research grant

Understanding the Function of Fragile X Protein in Drosophila

FRAXA-funded Tokushima researchers mapped the Drosophila FMR1 gene and its pathways, revealing how Fragile X disrupts cell function.

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Assam El-Osta, PhD, at Peter MacCallum Cancer Institute, Australia, FRAXA research grant

FMR1 Repression and the Signals to Chromatin

With $70K from FRAXA, Dr. Assam El-Osta’s team at Peter MacCallum Cancer Institute studied FMR1 silencing and histone regulation in Fragile X.

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

FRAXA’s $50K grant supported Dr. Carl Dobkin’s team in uncovering why Fragile X mice show increased seizure activity. Findings published.

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Robert Denman, PhD

Isolating and Characterizing the mRNAs That Bind FMRP

With $60K from FRAXA, Dr. Denman’s team investigated how the Fragile X protein FMRP functions in the brain.

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Linda Crnic, PhD, at University of Colorado, FRAXA research grant

Treatment of a Mouse Model of Fragile X Syndrome with MPEP

A $49K FRAXA grant helped Dr. Linda Crnic’s Colorado team study chronic MPEP use to ease Fragile X symptoms while preserving cognition.

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Structure of FMRP

With $68K from FRAXA, Dr. Lynne Regan at Yale studied how protein shapes influence Fragile X function. Results were published.

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Prospects For Gene Therapy in the Fragile X

FRAXA-funded Dr. Rattazzi explored gene therapy to transfer the FMR1 gene into the brain of Fragile X mice, publishing key results.

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FRAXA Funded Research

Current Research Grants (38)