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 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.
PIKE as a Central Regulator of Synaptic Dysfunction in Fragile X Syndrome
With $255,000 from FRAXA Research Foundation, Dr. Suzanne Zukin at Albert Einstein College of Medicine studied signalling pathways in Fragile X syndrome.
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.
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.
Sensory Hypersensibility in Fragile X Syndrome and BK Channel Openers
With $366,100 in FRAXA funding, researchers tested BK channel–opening drugs to fix sensory abnormalities in Fragile X mice; early results showed broad behavioral rescue.
Fragile X Mutant Mouse Models
With $375,000 in grants from FRAXA, Dr. David Nelson developed an array of advanced mouse models of Fragile X. These models are available at Jackson Labs (JAX).
Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome
FRAXA-funded research showed nonsense-mediated mRNA decay is overactive in Fragile X, pointing to existing NMD-suppressing drugs like caffeine as potential treatments.
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.
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.
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.
Researcher David Nelson, PhD, Explores New Cell Strategies for Fragile X Syndrome, FXTAS and FXPOI
David Nelson co-discovered the FMR1 mutation which causes Fragile X syndrome and developed key mouse models, enabling global research aimed at finding treatments for the disorder.
Double Down: Fragile X Clinical Trial Combines Two Available Drugs
FRAXA funded a trial combining lovastatin and minocycline to test whether targeting multiple pathways can improve brain activity and behavior in Fragile X.
The X Factor – Turning on X Chromosome Genes to Treat X-linked Disorders
Harvard researcher Jeannie T. Lee, MD, PhD, moves closer to turning on select genes on the X chromosome to treat people with X-linked disorders.
Fragile X Fruit Fly Research Bears Fruit
A new FRAXA-funded study shows how the hormone insulin – usually associated with diabetes — is involved in the daily activity patterns and learning deficits in the fruit fly model of Fragile X Syndrome (FXS). The study also reveal a metabolic pathway that can be targeted by new and already approved drugs to treat Fragile X patients, notably metformin.
Abnormalities of Synaptic Plasticity in the Fragile X Amygdala
With FRAXA funding, Dr. Sumantra Chattarji at NCBS explored how Fragile X alters amygdala function. Results were published.
Targeting AMP-Activated Protein Kinase Pathway in Fragile X Syndrome
With this grant from FRAXA, Dr. Peter Vanderklish explored AMPK activators to treat Fragile X. Both metformin and resveratrol, found in red wine, are AMPK activators.
Fruit Flies to Model and Test Fragile X Treatments
Boosting cAMP signaling restores memory and fixes brain-signaling defects in Fragile X models, suggesting diabetes drugs like metformin may help.
Analysis of Developmental Brain Dysfunction in Families
No strong behavioral similarities were found between parents and children with Fragile X, indicating family history may not guide clinical trial recruitment.
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.