Metabolic and Mitochondrial Crosstalk in Insulin and cAMP Pathways in Fragile X Syndrome

Fragile X syndrome research explores insulin and cAMP pathway crosstalk, mapping brain metabolism to guide treatment strategies.

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Validating Novel Inhibitors of ERK Signalling to Treat Fragile X Syndrome

This team is testing ERK inhibitors — drugs that may calm overactive brain signaling in Fragile X. Early results in mice show strong benefits with minimal side effects.

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Brain Organoids and Therapeutic Development for Fragile X and Other Rare Diseases

This is the first in a series of webinars focused on current topics in Fragile X research. In this webinar we hear from Alysson R. Muotri, PhD, Professor at University of California San Diego Stem Cell Programand Fabio C. Tucci, PhD, Chief Operating Officer and co-founder at Epigen Biosciences, Inc.

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Galarneau lab team

Clinical Trial of Metformin for Fragile X Syndrome

FRAXA-funded open-label trial found that metformin led to increased GABA-mediated cortical inhibition, suggesting metformin modulates core Fragile X pathways.

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18th International Fragile X and Related Neurodevelopmental Disorders Workshop, Quebec, Canada

In Their Own Words: Reports From the International Fragile X Workshop

The 18th International Fragile X Workshop in Quebec was a great success, featuring more Fragile X research than ever before!

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Emily Osterweil

Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome

Drs. Emily Osterweil and Stephanie Barnes investigated NMDA receptor signaling and how rebalancing protein synthesis could correct Fragile X brain abnormalities.

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Dr. Tom Jongens and Dr. Sean McBride study Fragile X Fruit Flies

Fruit Flies to Model and Test Fragile X Treatments

Boosting cAMP signaling restores memory and fixes brain-signaling defects in Fragile X models, suggesting diabetes drugs like metformin may help.

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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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Dr. Emily Osterweil

Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials

FRAXA honored Dr. Emily Osterweil for discovering that lovastatin can correct key Fragile X abnormalities. Her findings were published in Neuron.

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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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FRAXA Funded Research

Current Research Grants (42)