3 Researchers Honored at FRAXA Investigators Meeting

FRAXA’s 2008 Investigators Meeting brought together 150+ researchers from around the world to collaborate and speed new Fragile X therapies.

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James Malter, at University of Wisconsin-Madison, FRAXA research grant

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

With FRAXA funding, Drs. James Malter and Cara Westmark studied how APP and its metabolite may drive excess protein synthesis in Fragile X, aiming to restore balance.

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Wen-Biao Gan, PhD, of New York University, FRAXA research grant

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

FRAXA-funded research by Dr. Wen-Biao Gan at NYU visualized brain plasticity in Fragile X mice, revealing when neural connections form or go awry.

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Ravi Allada, MD, at Northwestern University, FRAXA research grant

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

With FRAXA funding, Dr. Ravi Allada’s team at Northwestern University studied Fragile X fruit flies to uncover causes of sleep and activity disturbances.

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Peter Kind, PhD, of University of Edinburgh, FRAXA research grant

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

FRAXA-funded research by Dr. Peter Kind at the University of Edinburgh explored how FMRP interacts with brain development to impact Fragile X.

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Targeting the Role of Group 1 Metabotropic Glutamate Receptors

Dr. Huibert Mansvelder’s FRAXA-funded study at the University of Amsterdam examined receptor responses to drugs, revealing new therapeutic insights.

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Robert Richards

Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish

Dr. Robert Richards and his Adelaide team used FRAXA funding to explore zebrafish models, revealing early clues to Fragile X treatment pathways.

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Craig Erickson, MD, at Indiana University School of Medicine, FRAXA research grant

Clinical Trial of Aripiprazol in Fragile X Syndrome

With FRAXA funding, Dr. Craig Erickson tested aripiprazole (Abilify) in Fragile X. Ten of 12 participants improved—promising results that were published.

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Jay Gibson, PhD, at University of Texas at Southwestern, FRAXA research grant

Decreased Excitatory Drive onto Parvalbumin-Positive Neocortical Inhibitory Neurons in a Mouse Model of Fragile X Syndrome

Drs. Jay Gibson and Kimberly Huber used FRAXA funding to uncover whether disrupted brain inhibition drives Fragile X, paving the way for targeted therapies.

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Leonard Kaczmarek, PhD

Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse

Dr. Leonard Kaczmarek’s Yale lab revealed how Fragile X disrupts potassium channels, impairing auditory processing and fueling sensory overload.

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Baclofen: GABA(B) Receptor Supersensitivity and Normalization of Behavioral Abnormalities by Various GABA(B) Agonists Including Baclofen in FMRP Deficient Mice

FRAXA’s $110K grant supported Dr. Miklos Toth at Cornell in discovering that baclofen corrects the heightened startle response in Fragile X mice.

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Joseph LeDoux, PhD, at New York University, FRAXA research grant

Examining the Amygdala in Mouse Models of Fragile X

How does the amygdala impact Fragile X? With a $63,000 FRAXA grant, Dr. Joseph LeDoux’s NYU team set out to uncover crucial brain connections.

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Social Deficits in Fragile X Syndrome: Do Gene-Gene Interactions Play a Role?

FRAXA’s $100K grant supported Drs. Jean Lauder and Sheryl Moy at UNC in exploring gene–gene interactions in Fragile X.

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Walter Kaufman, MD, PhD, at Johns Hopkins University, FRAXA research grant

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

FRAXA’s $143K grant supported Drs. Kaufmann, Huganir, Worley, and Lieberman at Johns Hopkins in studying mGluR dynamics in Fragile X mice.

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Yong-Hui Jiang, PhD, at Baylor College of Medicine, FRAXA research grant

Role of FMRP Interacting Protein CYFIP1 in Prader-Willi and Fragile X Syndromes

FRAXA’s $105K grant supported Dr. Yong-Hui Jiang at Baylor in exploring connections between Fragile X and Prader-Willi syndromes.

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Fen-Biao Gao, PhD, at University of California at San Fransico, FRAXA research award

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

FRAXA’s $160K grant supported Dr. Fen-Biao Gao’s UC team in exploring the connection between mRNA and FMRP.

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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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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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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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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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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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Alcino Silva, PhD

Prepulse Inhibition in Fragile X

With $27K from FRAXA, Dr. Alcino Silva studied prepulse inhibition in Fragile X mice and children, linking lab findings to real-world behavior.

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FRAXA Funded Research

Current Research Grants (38)