FRAXA Research Foundation

Linda Crnic, PhD, at University of Colorado, FRAXA research grant

Treatment of a Mouse Model of Fragile X Syndrome with MPEP

January 1, 2003

A $49K FRAXA grant helped Dr. Linda Crnic’s Colorado team study chronic MPEP use to ease Fragile X symptoms while preserving cognition.

Structure of FMRP

February 27, 2002

With $68K from FRAXA, Dr. Lynne Regan at Yale studied how protein shapes influence Fragile X function. Results were published.

Prospects For Gene Therapy in the Fragile X

February 27, 2002

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

Kevin Moses, PhD, Wellcome Trust, FRAXA scientific Advisor

A Genetic Screen For Dominant Modifiers of Drosophila (Fruitfly) FMR

February 27, 2002

A $35K FRAXA grant supported Dr. Kevin Moses at Emory in using fruit flies to screen for genes active in the Fragile X signaling pathway.

Robert Malinow, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

Studies of glutamate receptor trafficking

August 1, 2001

With $35K from FRAXA, Drs. Malinow and Zhu at Cold Spring Harbor mapped proteins affected by Fragile X. Dr. Zhu continued this work at UVA.

Prepulse Inhibition in Fragile X

June 27, 2001

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

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

Identification of Specific RNA Targets of FMRP

February 27, 2001

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

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

Transgenic Mouse Model Studies of Fragile X Syndrome

February 27, 2001

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

Startle Modulation in Males with Fragile X Syndrome

February 27, 2001

FRAXA’s $42,720 grant helped Dr. Elisabeth Dykens uncover startle and PPI effects in Fragile X males. Results were published.

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

Molecular Interactions Between FMRP and Protein Translation Apparatus

February 27, 2001

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

President Clinton celebrating Children's Health Act

FRAXA Invited to The White House, Celebrating The Children’s Health Act

February 8, 2001

On short notice, Katie Clapp and Mary Beth and David Busby hurried to attend the January 4th White House ceremony celebrating the bipartisan enactment of the Children’s Health Act of 2000, which boosts federal funding of research on children’s diseases, including Fragile X. This was a rare, unforgettable opportunity to meet both (now, former) President and Senator Clinton in “The Blue Room,” along with several members of Congress.

Justin Fallon, PhD, Brown University, FRAXA research grant

Transcriptional Regulation of the Fragile X Gene (fmr1) in the Olfactory Bulb

January 9, 2001

With $35K from FRAXA, Dr. Justin Fallon’s team at Brown University mapped Fragile X granules and explored FMRP’s role in sensorimotor function.

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

Role of FMRP in Development and Maturation of Spine Synapses

February 27, 2000

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

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

Neural Network Model of Working Memory in Fragile X Syndrome

February 27, 2000

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

Melatonin Clinical Trial in Fragile X

February 27, 2000

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

FMR1 Gene Regulation

February 27, 2000

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

Longitudinal Study of Children with Fragile X

February 27, 2000

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

Transport of the Fragile X Protein

February 27, 2000

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.

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

Characterization of Two Novel FMRP Interacting Proteins

February 27, 2000

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.

Synaptic Plasticity and Olfactory Learning in Fragile X

February 26, 2000

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.

Reactivation of the FMR1 Gene in Fragile X Patients Cells in Culture

January 14, 2000

FRAXA-funded Dr. Neri’s team in Italy tested strategies to reactivate the Fragile X gene, advancing curative research.

Karel Svoboda, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

Imaging of Neocortical Dendritic Spine Maturation in FMR1 Knockout Mice Using Two-Photon Laser Scanning Microscopy

June 16, 1999

With $30K from FRAXA, Dr. Karel Svoboda’s team at Cold Spring Harbor studied dendritic spine changes in Fragile X mouse brain circuits.

Psychophysiological Measures of Arousal: Documentation of Treatment Effects & Impact of Disability

January 14, 1999

With $60K from FRAXA, Dr. Don Bailey’s UNC team studied how arousal affects individuals with Fragile X, deepening understanding of behavior.

Improving Memory Reversal Testing and Treatment with AMPAkines in the Fragile X Knock-Out Mouse

June 27, 1998

FRAXA-funded Dr. W. Ted Brown studied learning deficits in Fragile X mice and tested Ampakine drugs for potential treatment.

Treatment of a Mouse Model of Fragile X Syndrome with MPEP

Structure of FMRP

Prospects For Gene Therapy in the Fragile X

A Genetic Screen For Dominant Modifiers of Drosophila (Fruitfly) FMR

Studies of glutamate receptor trafficking

Prepulse Inhibition in Fragile X

Identification of Specific RNA Targets of FMRP

Transgenic Mouse Model Studies of Fragile X Syndrome

Startle Modulation in Males with Fragile X Syndrome

Molecular Interactions Between FMRP and Protein Translation Apparatus

FRAXA Invited to The White House, Celebrating The Children’s Health Act

Transcriptional Regulation of the Fragile X Gene (fmr1) in the Olfactory Bulb

Role of FMRP in Development and Maturation of Spine Synapses

Neural Network Model of Working Memory in Fragile X Syndrome

Melatonin Clinical Trial in Fragile X

FMR1 Gene Regulation

Longitudinal Study of Children with Fragile X

Transport of the Fragile X Protein

Characterization of Two Novel FMRP Interacting Proteins

Synaptic Plasticity and Olfactory Learning in Fragile X

Reactivation of the FMR1 Gene in Fragile X Patients Cells in Culture

Imaging of Neocortical Dendritic Spine Maturation in FMR1 Knockout Mice Using Two-Photon Laser Scanning Microscopy

Psychophysiological Measures of Arousal: Documentation of Treatment Effects & Impact of Disability

Improving Memory Reversal Testing and Treatment with AMPAkines in the Fragile X Knock-Out Mouse

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