3 Researchers Honored at FRAXA Investigators Meeting

Over 150 scientists from around the world gathered at FRAXA’s 2008 Investigators Meeting to share discoveries and speed treatments for Fragile X syndrome.

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Glutamate Metabolism in Fragile X Mouse Brain

Dr. Mary McKenna’s FRAXA-funded study at the University of Maryland examined how mGluR activity impacts key brain pathways linked to Fragile X.

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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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AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X

FRAXA’s $104K grant supported Dr. Julie Lauterborn at UC in studying dendritic spines and memory-related treatment targets in Fragile X mice.

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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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Randall Carpenter, MD, at Massachusetts Institute of Technology, FRAXA research grant

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

With support from FRAXA, Seaside Therapeutics developed STX107, an mGluR5 antagonist for Fragile X. Though development ended, it advanced key clinical insights.

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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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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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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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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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FRAXA Funded Research

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