Drs. Peng Jin, Zhexing Wen, and Jie Xu

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

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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James Fink, Noelle Germain, and Graham Dempsey of Quiver Biosciences

Validate a Novel Antisense Oligonucleotide Therapeutic for Fragile X Syndrome

FRAXA funds Quiver Biosciences to validate a novel antisense oligonucleotide (ASO) therapy for Fragile X syndrome, targeting the root cause of the disorder.

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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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A Tat-Conjugate Approach to Treat Fragile X Syndrome

Explore the Turner Lab’s innovative approach to treating Fragile X using a Tat-linked, truncated FMRP protein designed to restore brain function by replacing the missing protein.

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Evaluating Novel Drug Candidates for Fragile X Syndrome 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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FRAXA Drug Validation Initiative (FRAXA-DVI)

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing to validate investigational and repurposed compounds for Fragile X.

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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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Marine Anais Krzisch, PhD

Role of Microglia in Fragile X Syndrome

Learn how Dr. Marine Anais Krzisch’s $35K FRAXA and ASF-funded project uses human iPSC microglia models to uncover pathways for Fragile X syndrome treatment.

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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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Gene Editing of FMR1 to Correct FXS Phenotypes in Mice

This team is testing cutting-edge gene editing tools to correct Fragile X mutations in the brain. Using a new mouse model, they will see if treatment can restore normal function.

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Fragile X Unplugged: Establishing Mobile EEG as the Next Frontier

A $100,000 FRAXA grant to Cincinnati Children’s Hospital is simplifying and testing EEG technology for home use, improving clinical trial accessibility and efficiency.

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

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

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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Unveiling Probiotic Potential in Fragile X Syndrome Clinical Trial

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

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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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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Somatosensory Processing as a Therapeutic Target for Fragile X Syndrome

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

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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FRAXA Funded Research

Current Research Grants (40)