Fragile X Treatment: New Research Directions

In the wake of negative results from several high-profile clinical trials in Fragile X, we find ourselves questioning many of our previous assumptions about the nature of this disorder.

Read More »
Bradley Alger, PhD

The Endocannabinoid System in a Mouse Model of Fragile X Syndrome

Fragile X disrupts endocannabinoid signaling. This study in mice demonstrated that correcting it may calm brain hyperexcitability and improve symptoms.

Read More »
Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

STEP inhibition reversed behavioral and synaptic Fragile X deficits in mice (Neuropharmacology, 2018), highlighting STEP as a promising treatment target.

Read More »
Robert Wong, PhD

Seizures in Fragile X Syndrome and Therapeutic Potential of NMDA Receptor Antagonists

Dr. Wong studies how NMDA and mGluR receptors interact to trigger seizures in Fragile X, revealing NR2B-specific blockers as a promising targeted treatment.

Read More »

What Treatments Work for FXTAS?

FXTAS affects many in our Fragile X community. Research aims to uncover its cause and guide more effective treatments.

Read More »
Dr. Emily Osterweil

Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials

FRAXA honored Dr. Emily Osterweil for discovering that lovastatin can correct key Fragile X abnormalities. Her findings were published in Neuron.

Read More »
Justin Cowan, PhD

Treatment of Fragile X Syndrome via Dopamine Enhancers and Glutamate Inhibitors

In Fragile X mice, low dopamine signaling and excessive glutamate activity were targeted with dual therapy: dopamine enhancers plus glutamate inhibitors.

Read More »
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.

Read More »

Preclinical Evaluation of Serotonin Receptor Agonists as Novel Pharmacological Tools in Fragile X Syndrome

With FRAXA funding the team found that activating 5-HT7 receptors reversed excess mGluR-LTD in Fragile X mice, pointing to a new route to fix synapses.

Read More »

Small Rho GTPases, a Potential Therapeutic Target for Fragile X Syndrome

Dr. MariVi Tejada from the University of Houston tested several potential therapeutic compounds in an attempt to rescue function in the mouse model of Fragile X.

Read More »
Kimberly Huber, Ph.D., FRAXA Investigator

Evaluation of CamKII Dependent Regulation of mGluR5-Homer Scaffolds as a Potential Therapeutic for Fragile X Syndrome

Disrupted mGluR5–Homer scaffolding in Fragile X is linked to excess CaMKII activity. Restoring this interaction could rebalance signaling and improve symptoms.

Read More »

A Metabolomic Drug Efficacy Index to Test Treatments in the Fragile X Mouse

This work revealed small-molecule metabolic changes in Fragile X brains and is using them to build a drug-efficacy index for screening therapies.

Read More »

Compound that Inhibits mGluR5 Corrects Signs of Fragile X in Adult Mice

A Roche and MIT study published in Neuron finds that an mGlu5 inhibitor, CTEP, can reverse many Fragile X symptoms in adult mice.

Read More »

Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

Using a fruit-fly Fragile X model, researchers screened many drugs quickly to find those that improve behavior, speeding up potential treatment testing.

Read More »

Altered Dendritic Synthesis of Postsynaptic Scaffold Protein Shank1 in Fragile X Syndrome

Loss of FMRP leads to excess synthesis of the scaffold protein Shank1 at dendrites. Elevated Shank1 may impair synaptic pruning and drive Fragile X spine pathology.

Read More »
Leonard Kaczmarek, PhD

The Slack Potassium Ion channel is a Therapeutic Target for Fragile X

With $282,000 in funding from FRAXA Research Foundation, Dr. Leonard Kaczmarek and colleagues explored association of Slack channels with the Fragile X protein (FMRP).

Read More »

Imaging Synaptic Structure and Function in Fragile X Mice

With $150K from FRAXA, Dr. Carlos Portera-Cailliau studied Fragile X mouse brains to examine dendrite structure and mGluR5 treatment effects.

Read More »
Iryna Ethell, PhD, at University of California

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

With a $220,000 FRAXA grant, Dr. Iryna Ethell’s team at UC Riverside uncovered MMP-9’s role in Fragile X—leading to a major treatment strategy using minocycline.

Read More »

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.

Read More »

3 Researchers Honored at FRAXA Investigators Meeting

FRAXA’s 2008 Investigators Meeting brought together 150+ researchers from around the world to collaborate and speed new Fragile X therapies.

Read More »

Glutamate Metabolism in Fragile X Mouse Brain

Dr. Mary McKenna’s FRAXA-funded study at the University of Maryland examined how mGluR activity impacts key brain pathways linked to Fragile X.

Read More »

AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X

FRAXA’s $104K grant supported Dr. Julie Lauterborn at UC in studying dendritic spines and memory-related treatment targets in Fragile X mice.

Read More »
Peter Kind, PhD, of University of Edinburgh, FRAXA research grant

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

FRAXA-funded research by Dr. Peter Kind at the University of Edinburgh explored how FMRP interacts with brain development to impact Fragile X.

Read More »

Targeting the Role of Group 1 Metabotropic Glutamate Receptors

Dr. Huibert Mansvelder’s FRAXA-funded study at the University of Amsterdam examined receptor responses to drugs, revealing new therapeutic insights.

Read More »

Categories

FRAXA Funded Research

Current Research Grants (38)