Research Results Archives • Page 2 of 2 • FRAXA Research Foundation

Dr. Tom Jongens and Dr. Sean McBride study Fragile X Fruit Flies

Fruit Flies to Model and Test Fragile X Treatments

September 13, 2015

Boosting cAMP signaling restores memory and fixes brain-signaling defects in Fragile X models, suggesting diabetes drugs like metformin may help.

Elizabeth Berry-Kravis, MD, PhD, Fragile X researcher

Clinical Trials Outcome Measures

November 22, 2014

There is a critical need for reliable biomarkers and clinical outcome measures for Fragile X syndrome. Treatment trials depend on this.

Channelopathies: Altered Ion Channels in Fragile X Syndrome

September 15, 2014

Ion channel defects (“channelopathies”) in Fragile X disrupt neuron firing and network balance. This study maps these channel changes to guide targeted treatments.

Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

June 2, 2013

FRAXA-funded studies found faulty endocannabinoid signaling in Fragile X brain circuits for reward and emotion, and boosting 2-AG restored normal function.

Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice

February 1, 2011

Fragile X mice show reduced basal cAMP and exaggerated mGluR-LTD; boosting cAMP or blocking specific adenylyl cyclases rescues synaptic and behavioral defects.

Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

January 30, 2011

The Richter lab found that CPEB1 knockdown in Fmr1 KO mice normalized excessive protein synthesis and improved synaptic and memory problems tied to Fragile X.