Frank Kooy lab

GABA-A Receptor in Fragile X Syndrome

Published results from Dr. Frank Kooy reveal how GABAA receptor changes may hold the key to treating Fragile X syndrome.

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Kimberly Huber, Ph.D., FRAXA Investigator

Targeting mGluR-LTD to Treat Fragile X Syndrome

With FRAXA support, Dr. Kimberly Huber uncovered how mGluR signaling contributes to Fragile X, laying the foundation for major clinical advances.

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Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Mouse Models of Fragile X Syndrome

With FRAXA support, Dr. Oostra’s team built the first Fragile X mouse model and published pivotal studies advancing the field.

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Basic Mechanisms of Disease and Potential Therapeutic Strategies

Dr. Stephen Warren’s FRAXA-funded research at Emory led to the Fragile X gene discovery and new breakthroughs using stem cells and model systems.

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Role of FMRP in the Regulation of Synaptic Plasticity

FRAXA’s $1M support helped Drs. Greenough and Weiler reveal FMRP’s role at synapses, shaping today’s understanding of Fragile X syndrome.

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Richard Paylor, PhD, at Baylor College of Medicine, FRAXA Research grant

Therapeutic Interventions in FMR1 Knockout and Transgenic Mice: Role of the FMR1 Gene

With FRAXA’s $229K grant, Baylor researchers showed that Fragile X protein levels in the brain affect activity and anxiety in mice and humans.

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Robert Bauchwitz, MD, PhD, at Columbia University, FRAXA research grant

Transgenic Mouse Models of Fragile X Syndrome

With $736K from FRAXA, Dr. Bauchwitz built 15 Fragile X mouse models at Columbia to test and publish results on new treatments.

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Andre Hoogeveen , PhD

Reactivating the FMR1 Gene

With $171.6K from FRAXA, Dr. Andre Hoogeveen’s Erasmus team developed methods to reactivate the Fragile X gene, advancing curative research.

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Kenneth J. Mack, MD, PhD, at Mayo Clinic, FRAXA research grant

Role of Experience in Regulating Levels of the Fragile X Protein

With $49K from FRAXA, Drs. Mack and Todd studied how brain stimulation changes FMRP levels, deepening Fragile X research insight.

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Haruhiko Siomi, PhD, at Tokushima University, FRAXA research grant

Understanding the Function of Fragile X Protein in Drosophila

FRAXA-funded Tokushima researchers mapped the Drosophila FMR1 gene and its pathways, revealing how Fragile X disrupts cell function.

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Robert Denman, PhD

Isolating and Characterizing the mRNAs That Bind FMRP

With $60K from FRAXA, Dr. Denman’s team investigated how the Fragile X protein FMRP functions in the brain.

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Prospects For Gene Therapy in the Fragile X

FRAXA-funded Dr. Rattazzi explored gene therapy to transfer the FMR1 gene into the brain of Fragile X mice, publishing key results.

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Alcino Silva, PhD

Prepulse Inhibition in Fragile X

With $27K from FRAXA, Dr. Alcino Silva studied prepulse inhibition in Fragile X mice and children, linking lab findings to real-world behavior.

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Robert Darnell, MD, PhD, at Rockefeller University, FRAXA research grant

Identification of Specific RNA Targets of FMRP

FRAXA-funded Dr. Darnell’s Rockefeller team uncovered how FMRP works and how its absence alters brain function. Published results.

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Dr. Eric Kandel, MD, Columbia University, FRAXA research grant

Transgenic Mouse Model Studies of Fragile X Syndrome

With $410K from FRAXA, Dr. Eric Kandel’s team at Columbia developed Fragile X mouse models to advance future studies of the disorder.

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Claudia Bagni, PhD, at University of Rome, FRAXA research grant

Molecular Interactions Between FMRP and Protein Translation Apparatus

FRAXA-funded Dr. Bagni uncovered how Fragile X disrupts protein synthesis control, advancing molecular understanding. Published results.

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Menahem Segal, PhD, at Weizmann Institute, FRAXA research grant

Role of FMRP in Development and Maturation of Spine Synapses

With $160K from FRAXA, Drs. Segal and Braun studied Fragile X development in lab models to advance understanding. Results published.

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Mina Johnson-Glenberg, PhD, at University of Wisconsin, FRAXA research grant

Neural Network Model of Working Memory in Fragile X Syndrome

FRAXA-funded Dr. Johnson-Glenberg explored how Fragile X impacts memory and learning, offering insight into cognitive challenges.

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Melatonin Clinical Trial in Fragile X

FRAXA-funded Dr. Hagerman’s UC team explored melatonin’s effects in Fragile X, advancing understanding of treatment options. Results published.

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Paul Hagerman, PhD

FMR1 Gene Regulation

FRAXA-funded Dr. Paul Hagerman explored reactivating the FMR1 gene and measuring its expression to advance Fragile X treatment.

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Longitudinal Study of Children with Fragile X

With $30K from FRAXA, Dr. Don Bailey’s UNC team studied how children with Fragile X develop, focusing on learning, language, and behavior.

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Transport of the Fragile X Protein

With $123K from FRAXA, Dr. Alan Tartakoff at Case Western studied how FMRP moves in the brain and advanced antibody tools for Fragile X research.

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Jean-Louis Mandel, PhD, at Strasbourg, FRAXA research grant

Characterization of Two Novel FMRP Interacting Proteins

With $30K from FRAXA, Dr. Jean-Louis Mandel’s Strasbourg team studied two proteins to reveal how FMRP loss affects brain function in Fragile X.

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Synaptic Plasticity and Olfactory Learning in Fragile X

With $40K from FRAXA, Dr. John Larson’s UIC team used mice’s sense of smell to study memory, learning, and Fragile X–related brain function.

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FRAXA Funded Research

Current Research Grants (39)