Gene Therapy Translational Studies for Fragile X Syndrome

With FRAXA funding, researchers tested AAV gene therapy to restore FMRP in Fragile X mice, measuring safety, effectiveness, and brain activity to inform future trials.

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Genetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value

Targeting the PI3K/mTOR cascade — specifically p110β — in Fragile X mice reversed neural and behavioral dysfunctions, validating it as a treatment pathway.

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FRAXA Funded Research

Current Research Grants (41)