Mechanisms of Tolerance to Chronic mGluR5 Inhibition

FRAXA supported research showing mGluR5 antagonist tolerance develops quickly in Fragile X models, guiding new strategies to prevent or overcome it.

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Peter Vanderklish

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

With a $35,000 grant from FRAXA, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.

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Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

With FRAXA funding, Dr. Sumantra Chattarji at NCBS explored how Fragile X alters amygdala function. Results were published.

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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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klann lab

The mTOR Pathway in Fragile X Syndrome

FRAXA-funded research showed that blocking S6K1 in Fragile X mice improves social, behavioral, and physical symptoms.

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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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Serotonergic Rescue of Synaptic Plasticity in FMR1 Knockout Mice

Dr. Zhu examined how serotonin-targeting drugs such as Buspar and Abilify influence synaptic plasticity, including LTP and LTD.

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Elizabeth Berry-Kravis, MD, PhD, Fragile X researcher

Clinical Trials Outcome Measures

In Fragile X participants, low-dose lithium showed benefits and helped refine biomarkers and behavioral assessments.

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Elizabeth Berry-Kravis, MD, PhD, Fragile X researcher

Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

With $65K from FRAXA, Dr. Berry-Kravis at Rush University ran a pilot lithium trial in 15 Fragile X patients. Results published.

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Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Role of the Cerebellum in the Dysfunction of Fragile X Syndrome

With FRAXA funding, Dr. Ben Oostra’s Dutch-Belgian team linked Fragile X to cerebellar motor learning deficits. Results published in Neuron (2008).

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Sean McBride, PhD, Albert Einstein College of Medicine, FRAZA research grant

Developing Fragile X Treatments in Fruit Flies and Mice

FRAXA’s $380K grant supported Drs. McBride, Jongens, and Choi in validating Fragile X treatments in mice to prepare for trials. Findings published.

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Imaging Synaptic Structure and Function in Fragile X Mice

With $150K from FRAXA, Dr. Carlos Portera-Cailliau studied Fragile X mouse brains to examine dendrite structure and mGluR5 treatment effects.

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Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Mouse Models of Fragile X Syndrome

With FRAXA support, Dr. Oostra’s team built the first Fragile X mouse model and published pivotal studies advancing the field.

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Basic Mechanisms of Disease and Potential Therapeutic Strategies

Dr. Stephen Warren’s FRAXA-funded research at Emory led to the Fragile X gene discovery and new breakthroughs using stem cells and model systems.

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Role of FMRP in the Regulation of Synaptic Plasticity

FRAXA’s $1M support helped Drs. Greenough and Weiler reveal FMRP’s role at synapses, shaping today’s understanding of Fragile X syndrome.

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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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Anna Francesconi, PhD, at Albert Einstein College of Medicine, FRAXA research grant

Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

With $83.5K from FRAXA, Dr. Anna Francesconi at Albert Einstein College studied receptor patterns and pathways linked to Fragile X.

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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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Carolyn-Beebe-Smith

Hypothalamic Pituitary Adrenal (HPA) Axis Dysregulation in Fragile X Syndrome

With $62K from FRAXA, Dr. Carolyn Smith studied the HPA stress axis in Fragile X mice, finding hormonal stress recovery unaffected. Results published.

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Yong Zhang, PhD, at Chinese Academy of Sciences, FRAXA research grant

Defining Functional Domains of FMRP and Uncovering its Partners via Large Scale Mutagenesis in Drosophila

With $80K from FRAXA, Dr. Yong Zhang at the Chinese Academy of Sciences identified genes that suppress Fragile X and explored FMRP function.

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Susumu Tonegawa, PhD, at MIT

Experimental Compound FRAX486 Reverses Signs of Fragile X in Mice

With $81K from FRAXA, Dr. Susumu Tonegawa at MIT studied the PAK enzyme as a potential Fragile X treatment target. Results published.

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Protein Synthesis in Interneurons in Fragile X Mice

A $100K FRAXA grant helped Dr. Oswald Steward at the University of California study protein synthesis in Fragile X mouse interneurons.

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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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Splicing Variations of the Fragile X Gene

An $80K FRAXA grant helped Dr. David Morris at the University of Washington explore FMRP isoform variation and brain expression.

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FRAXA Funded Research

Current Research Grants (38)