Investigating the Neurogenetic Interactions in Fragile X Syndrome

June 16, 2025

Fragile X syndrome research explores how FMRP regulates brain RNA across age, sex, and regions, revealing seizure genes and potential treatment targets.

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Emily Osterweil

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

June 15, 2025

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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Stephanie Barnes, PhD

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

May 7, 2025

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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Combining Gene Reactivation with Controlled Sound Exposure to Treat Fragile X Syndrome

March 11, 2025

The team combined gene reactivation with noninvasive acoustic stimulation in a mouse model as an approach to treating Fragile X syndrome.

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Small-Molecule Inhibitors of Nonsense-Mediated mRNA Decay (NMD) for Fragile X Syndrome

March 6, 2025

This project tests whether small-molecule drugs that reduce overactive nonsense-mediated mRNA decay (NMD) can restore normal gene regulation in Fragile X cells.

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Clinical Study of Non-Invasive EEG for Children Ages 2-7

February 5, 2025

Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital recruited children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.

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Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

October 9, 2024

This Stanford University team assessed combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome. Results published.

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Investigating the Role of the Insulin Degrading Enzyme (IDE) in Fragile X Syndrome

October 7, 2024

This study explores how disrupted insulin signaling affects metabolism and brain function in Fragile X, revealing new treatment targets for both body and mind.

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Mark Bear, PhD & Sara Kornfeld Simpson

Altered Physiology of Primary Visual Cortex in Fragile X Syndrome

September 19, 2024

This team believes inhibitory neurons expressing somatostatin are impaired in Fragile X. They will see if stimulating these neurons has therapeutic potential.

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Gene Editing of FMR1 to Correct FXS Phenotypes in Mice

September 5, 2024

This team is testing cutting-edge gene editing tools to correct Fragile X mutations in the brain using an advanced new mouse model.

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Identification of the Proteome of Active and Silenced FMR1 Alleles in Human Stem Cells

August 6, 2024

This project aims to uncover which proteins keep the Fragile X gene silenced. By identifying them, the team hopes to find new ways to switch the FMR1 gene back on.

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To Interrogate the Developmental Timing for Treating Fragile X Syndrome

July 29, 2024

Are there critical periods in Fragile X syndrome? Will treatment work in adults as well as in children? This team aims to answer these questions.

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Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells

July 28, 2024

Dr. Cara Westmark’s team will use mice to determine if palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.

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The Endocannabinoid System and Fragile X Syndrome

July 6, 2024

This project will examine how CBD and other drugs targeting the endocannabinoid system affect hyperexcitable Fragile X neurons to identify new treatment strategies.

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Characterization and Modulation of microRNAs in Fragile X Syndrome

June 7, 2024

MicroRNAs are disrupted in Fragile X; the team will work to understand this and explore ways to correct it with drugs which directly target microRNAs.

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Pharmacologically Activating mGluR7 as a Novel Therapy for Fragile X Syndrome

March 7, 2024

Join Dr. Tsai and Dr. Kumar on a journey into novel treatments for Fragile X syndrome. Activating mGluR7 could be a game-changer, opening up uncharted therapeutic territory.

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fNIRS to Measure Treatment Response in Young Children with Fragile X

February 13, 2024

The team tested functional near-infrared spectroscopy (fNIRS). fNIRS uses light sources and sensors on the scalp to build a heat map of the brain in action.

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Unveiling Probiotic Potential in Fragile X Syndrome Clinical Trial

December 20, 2023

First of its kind in Serbia, this clinical trial explores probiotic intervention as a potential treatment avenue for Fragile X syndrome.

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Pharmacological Modulation of Nicotinic Signaling

December 6, 2023

This study tests whether blocking certain nicotine-sensitive receptors in the brain during adolescence can improve attention and cognition in Fragile X.

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Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

December 6, 2023

This team studied how faulty calcium signaling in astrocytes contributes to sensory hypersensitivity in Fragile X, aiming to find new astrocyte-targeted treatments.

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

November 7, 2023

This project aims to reactivate the FMR1 gene to combat Fragile X Syndrome, with the goal of restoring vital protein function. This work is now funded by a new FRAXA grant.

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C-subunit Mitochondrial Leak Channel in Fragile X Syndrome

September 20, 2023

Explore Yale’s groundbreaking study on mitochondrial leak channels, set to revolutionize Fragile X syndrome treatment. Funded by a $100,000 FRAXA grant.

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Somatosensory Processing as a Therapeutic Target for Fragile X Syndrome

September 7, 2023

FRAXA-funded researchers in Edinburgh assessed a noninvasive touch test that could be used for clinical trials in Fragile X syndrome.

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Antisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids

August 24, 2023

Explore Dr. Richter’s encouraging results with ASOs for Fragile X syndrome. A $100,000 grant now fuels pivotal studies needed to advance toward ASO therapy.

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FRAXA Funded Research

Current Research Grants (37)