Banerjee team at College of Staten Island

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

Enhancing PKCε in early development normalized oxytocin, AMPAR signaling, and adult behavior in Fragile X mice, highlighting PKCε as a promising therapeutic target.

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Cellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome

The team studied how inhibitory brain circuits malfunction in Fragile X and tested ways to restore balance by targeting mGluR and endocannabinoid signaling.

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Elizabeth MCullough and Achim Klug

Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X

FRAXA-funded studies found Fragile X mice show altered auditory circuit function with delayed startle timing and reduced prepulse inhibition, mirroring human sound sensitivity.

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Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

In November 2020, a phase II clinical trial reported extremely successful results. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.

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Nazim Kourdougli and Carlos Portera-Cailleau

Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

FRAXA funded UCLA research on a Kv3.1-targeting drug to ease sensory issues in Fragile X. This work built on Yale-led work now also being pursued by Autifony Therapeutics.

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Developmental Profile of Glutamatergic Synapses in Fragile X

A FRAXA fellowship helped reveal how glutamate receptors at synapses develop differently in Fragile X, offering clues to improve learning and memory.

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Stephanie Barnes, PhD

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

FRAXA-backed work revealed NMDA receptors may hold the key to correcting brain signaling in Fragile X, pointing to new treatment strategies.

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Antonella Borreca, PhD, and Alberto Martire, PhD

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Could “caffeine-like” drugs help Fragile X? FRAXA funded research to test adenosine blockers, which may boost thinking and improve symptoms in Fragile X mice.

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Investigating Gene Reactivation to Treat Fragile X Syndrome

With a $180,000 grant from FRAXA Research Foundation, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.

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Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

STEP inhibition reversed behavioral and synaptic Fragile X deficits in mice (Neuropharmacology, 2018), highlighting STEP as a promising treatment target.

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Social Behavior as an Outcome Measure for Fragile X Clinical Trials

FRAXA funding helped identify reliable social behavior tests in Fragile X mice and showed an mGluR5 treatment could improve sociability, guiding future trials.

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What Works, and What Doesn’t

Early on, no one knew which path would work. Now the results are clear, and they’re directing FRAXA toward the next major Fragile X treatment breakthrough.

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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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Richard Paylor, PhD, at Baylor College of Medicine, FRAXA Research grant

Therapeutic Interventions in FMR1 Knockout and Transgenic Mice: Role of the FMR1 Gene

With FRAXA’s $229K grant, Baylor researchers showed that Fragile X protein levels in the brain affect activity and anxiety in mice and humans.

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W Ted Brown, MD, PhD

Improving Memory Reversal Testing and Treatment with AMPAkines in the Fragile X Knock-Out Mouse

FRAXA-funded Dr. W. Ted Brown studied learning deficits in Fragile X mice and tested Ampakine drugs for potential treatment.

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FRAXA Funded Research

Current Research Grants (41)