Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome
Drs. Emily Osterweil and Stephanie Barnes investigated NMDA receptor signaling and how rebalancing protein synthesis could correct Fragile X brain abnormalities.
Renewed Hope: Navigating Towards a Cure for Fragile X Syndrome
Discover how Dr. Peter Todd’s latest Fragile X Syndrome research offers hope for advanced treatments and a possible cure, marking a new era in FXS therapy.
Newly Diagnosed with Fragile X – What Comes Next?
In 2012, Jessica Haugen & Jeff Eliason learned their 1-year-old son Larry had Fragile X. The news brought shock, denial, and heartbreak.
Coming Full Circle – Kathy May Returns back to FRAXA
After 20 years, FRAXA co-founder Kathy May returns, saying, “There will be a cure. FRAXA is the reason for this hope.”
Brain Imbalance Target of Dr. Erickson’s New Clinical Trial
Dr. Erickson’s trial targeted brain imbalance in Fragile X by boosting GABA signaling with AZD7325, aiming to restore excitatory–inhibitory balance and improve symptoms.
Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms
Dr. Clinton Canal targets serotonin receptors to correct brain signaling in Fragile X, guiding drug discovery and repurposing of therapies for anxiety, seizures, and behavior.
Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X
FRAXA Research Foundation awarded $122,000 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.
Metformin, Diabetes Drug, Potential Fragile X Treatment
Dr. Nahum Sonenberg’s research showed the diabetes drug metformin can correct key signaling defects in Fragile X, leading to clinical trials of this safe, repurposed therapy.
Fragile X Nervous (System) Breakdown
Dr. Lynn Maquat’s research shows Fragile X disrupts neuron maturation and RNA regulation, impairing brain signaling—pointing to new targets like NMD for drug development.
Fragile X Research Tackles High Anxiety – Peter Vanderklish
Peter Vanderklish studies the brain circuits driving severe anxiety in Fragile X, identifying targets in stress pathways to develop treatments that reduce anxiety and improve daily life.
A Kinase Assay as a Biomarker for Fragile X Syndrome
Dr. Frank Kooy at the University of Antwerp investigated whether phosphorylation abnormalities are a suitable biomarker for clinical trials in Fragile X syndrome.
University of Cambridge Startup Healx is Rapidly Identifying Existing Drugs to Help Fragile X Patients
FRAXA awarded $44,000 to Healx for drug repurposing to find new treatments for Fragile X syndrome. The results include eight top "hits" which show promise for Fragile X.
Trial and No Error: Better Outcomes for Clinical Trials in Fragile X Syndrome
The team investigated a potential microRNA blood-based biomarker that can be used as a clinical outcome measure for Fragile X syndrome.
NIH Investigator Carolyn Beebe Smith, PhD, Looks to Improve Sleep in Fragile X Syndrome
Carolyn Beebe Smith studies sleep disruptions in Fragile X and tests whether improving sleep with existing drugs can reduce symptoms and enhance behavior.
New Fragile X Clinical Trial for Children Launching in June 2017
Elizabeth M. Berry-Kravis, MD, PhD, has launched a large-scale clinical trial to study effects of AFQ056, an mGluR5 blocker, on learning in young children with Fragile X syndrome.
Mark Bear’s Goal: Disease-Modifying Treatments for Fragile X
Mark Bear pioneered the mGluR theory of Fragile X, linking excess protein synthesis to symptoms and driving development of disease-modifying treatments now tested in clinical trials.
Kimberly Huber, PhD, Explores Hyperexcitability in Fragile X Syndrome
What causes hyperexcitability? Dr. Kimberly Huber seeks to understand how FMRP regulates connections between brain cells and the function of brain circuits.
Identifying Biomarkers for Fragile X Syndrome – A Study in Argentina
FRAXA funds biomarker research to develop objective, biological measures of Fragile X, helping predict treatment response, guide trials, and move therapies toward FDA approval.
Cornell University Researcher Looks to Restore Fragile X Protein in Neurons
Cornell researcher Samie Jaffrey is developing ways to restore FMRP in specific brain cells, defining how much, where, and how the protein must be expressed to reverse Fragile X.
Brain Revolution: French Scientists Bardoni and Maurin Study FMRP
Bardoni and Maurin study how FMRP interacts with other molecules in the brain, identifying targets and signaling pathways that could lead to new drug therapies for Fragile X.
Memory Lane: New Research to Improve Memory in Fragile X Mice
University of Texas at Austin Researchers Daniel Johnston, PhD, and Jennifer J. Siegel, PhD, explore ways to Iimprove memory in Fragile X mice.
Achieving Predictability: Developing Biomarkers for Fragile X Patients
FRAXA funds biomarker research to identify objective, measurable signals of Fragile X, helping predict who will respond to treatments and improving clinical trial success.
University of Michigan researcher Peter Todd, MD, PhD, Aims to Selectively Turn the Fragile X Gene Back on in Human Cells
University of Michigan scientists Peter Todd, MD, PhD, and postdoctoral fellow Jill Haenfler, Ph.D., are adapting CRISPR to reactivate the FMR1 gene to reverse Fragile X syndrome.
Meltdown no more? Targeting Hypersensitivity in Fragile X
Meet Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, FRAXA-funded researchers at University of California, Riverside who are tackling Fragile X.