Sex Differences and the Role of Estrogen Receptors in Fragile X

Fragile X syndrome researchers are studying how estrogen receptors shape brain activity and may explain why males and females experience symptoms differently.

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Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

Presentations by Craig Erickson, Ernest Pedapati, Devin Binder, and Kimberly Huber about their research on Fragile X as part of their NIH Center of Excellence.

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Impact of the Fragile X Community

Because of you, FRAXA invests $1M+ each year in Fragile X research and helped launch $35M more in studies leading to clinical trials.

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Dr. Kimberly Huber

Kimberly Huber, PhD, Explores Hyperexcitability in Fragile X Syndrome

What causes hyperexcitability? Dr. Kimberly Huber seeks to understand how FMRP regulates connections between brain cells and the function of brain circuits.

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Kimberly Huber, Ph.D., FRAXA Investigator

Targeting mGluR-LTD to Treat Fragile X Syndrome

With FRAXA support, Dr. Kimberly Huber uncovered how mGluR signaling contributes to Fragile X, laying the foundation for major clinical advances.

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Kimberly Huber, Ph.D., FRAXA Investigator

Evaluation of CamKII Dependent Regulation of mGluR5-Homer Scaffolds as a Potential Therapeutic for Fragile X Syndrome

Disrupted mGluR5–Homer scaffolding in Fragile X is linked to excess CaMKII activity. Restoring this interaction could rebalance signaling and improve symptoms.

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Dr. Kimberly Huber

A Developmental Switch Exists in the Effects of FMRP

Fragile X research found that FMRP’s role in synapse development changes with age—early on it builds synapses, later it removes them—via MEF2 signaling.

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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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FRAXA Funded Research

Current Research Grants (44)