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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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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Slack Potassium Channel Inhibitors to Normalize FMR1 Knockout Mice

August 14, 2023

FRAXA research grant enabled Yale researchers to investigate whether Slack potassium channel inhibitors can normalize behaviors in FMR1 knockout mice.

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FRAXA Funded Research

Current Research Grants (37)