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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Drs. Oswald Steward and Patricia Pirbhoy in their laboratory, studying RNA localization and gene activity in Fragile X syndrome using spatial transcriptomics.

Uncovering the Dynamics of FMR1 Using Spatial Transcriptomics for Fragile X

Scientists investigate how changes in RNA localization affect cognition and behavior in Fragile X, building knowledge toward more precise therapies.

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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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The Endocannabinoid System and Fragile X Syndrome

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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FRAXA Funded Research

Current Research Grants (42)