Drs. Peng Jin, Zhexing Wen, and Jie Xu

FMRP Regulatory Role in Human Hippocampal Development and Therapeutic Interventions in Fragile X

Fragile X syndrome hippocampal organoids show neuron–glia imbalance. This team will map disrupted gene networks and test PDE inhibitors to restore brain function.

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Dr. Joel Richter and Dr. Sneha Shah in their UMass Chan Medical School lab researching ASO therapy for Fragile X syndrome.

ASO Rescue of FMR1 Mis-Splicing in Neurons and Mitigation of Fragile X Deficits

A new FRAXA grant funds UMass Chan researchers using ASOs in neurons and organoids to correct FMR1 mis-splicing and restore critical FMRP protein.

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Evaluating Novel Drug Candidates for Fragile X Using the Live Mouse Tracker

This grant is funding AI-driven drug discovery, advanced mouse behavior tracking, and gene expression analysis to uncover new treatments for Fragile X syndrome.

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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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Lida Zoupi and Laura Oliviera with myelin

Oligodendrocytes: a Potential Route to Treat Fragile X Syndrome

This project explores the role of oligodendrocytes in Fragile X. The team will test if improving these cells’ function can restore normal brain activity to treat Fragile X.

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Shionogi’s EXPERIENCE Phase 3 Clinical Trial of Zatolmilast in Fragile X Syndrome

Learn more about Shionogi’s EXPERIENCE clinical trials for adults and adolescents with Fragile X syndrome, FRAXA’s role, and the open-label extension of these trials.

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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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Jeannie Lee, MD, PhD and Chloe Chen, PhD

Modeling R-Loop Therapy for Fragile X Syndrome in Patient-Derived Brain Organoids

Fragile X syndrome researchers model R-loop therapy in patient-derived brain organoids to restore FMR1, accelerating a curative approach supported by FRAXA.

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

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

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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To Interrogate the Developmental Timing for Treating Fragile X Syndrome

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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Pharmacologically Activating mGluR7 as a Novel Therapy for Fragile X Syndrome

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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Pharmacological Modulation of Nicotinic Signaling

Nicotine tickles nicotinic acetylcholine receptors which are key to brain functions including learning and memory. The team will see if drugs that dampen these receptors improve cognition in Fragile X.

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Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

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

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

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

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

Learn how a $100,000 FRAXA research grant supports Yale researchers in using Slack potassium channel inhibitors to treat Fragile X syndrome by normalizing behaviors in FMR1 knockout mice.

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Roles of Postnatal Transient Connectivity in the Development of Fragile X Syndrome

This team is studying why people with Fragile X are overly sensitive to sound and light, using advanced imaging to find brain changes and test ways to prevent them.

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The Endocannabinoid System and Fragile X Syndrome

Explore groundbreaking research on the potential of Cannabidiol (CBD) in modulating the endocannabinoid system for Fragile X syndrome therapy. Discover how CBD could change the natural course of Fragile X.

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SRC Family Kinase Inhibitor as a Potential Treatment for Fragile X Syndrome

Discover the Smith lab’s new approach to treating Fragile X syndrome using Saracatinib, originally a cancer drug. Learn how this $100,000 FRAXA research grant-funded study opens up hopeful avenues.

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Using Exosomes to Discover Fragile X Biomarkers

How can a blood test give an accurate picture of brain activity? The team will use exosomes – which travel from brain cells to the blood stream – to evaluate the effects treatments are having on the brain.

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Targeting Cognitive Function in Fragile X Syndrome

This project explores how Fragile X affects males and females differently by studying two brain signaling systems, endocannabinoid and cholecystokinin (CCK), to find new treatment targets.

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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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FRAXA Funded Research

Current Research Grants (37)