behavior Archives • Page 3 of 4 • FRAXA Research Foundation

Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

February 22, 2016

With FRAXA funding, Dr. Sumantra Chattarji at NCBS explored how Fragile X alters amygdala function. Results were published.

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.

Margaret King accepted the FRAXA Pioneer Award on behalf of Dr. Richard Jope, at the 2013 FRAXA Investigators Meeting

Analysis of Developmental Brain Dysfunction in Families

September 12, 2015

No strong behavioral similarities were found between parents and children with Fragile X, indicating family history may not guide clinical trial recruitment.

Molecular Mechanisms of Cytoskeletal Regulation by FMRP

January 9, 2015

With FRAXA funding, Dr. Jaffrey linked FMR1 loss to abnormal dendritic spines via RhoA signaling, suggesting RhoA-targeted therapies could help treat Fragile X.

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

September 13, 2013

FRAXA funding helped identify reliable social behavior tests in Fragile X mice and showed an mGluR5 treatment could improve sociability, guiding future trials.

Glycogen Synthase Kinase-3 (GSK3), Lithium and Fragile X

September 12, 2013

Dr. Jope found that lithium (at usual therapeutic doses) and investigational GSK3 inhibitors can reverse a number of cognitive deficits in FMR1 knockout mice.

Development of a Novel GABA-A Agonist in Fragile X Syndrome

September 9, 2013

FRAXA funded analysis of a selective GABA-A drug for Fragile X, leading to a clinical trial at Cincinnati Children’s to test this potential treatment.

Matrix Metalloproteinase Therapeutic Treatments for Fragile X Syndrome

September 2, 2013

Dr. Broadie showed that MMP enzymes disrupt synapse development in Fragile X. MMP inhibitors (e.g. minocycline) improved connectivity and behavior in fruit flies.

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.

Clinical Trials FAQ ← Frequently Asked Questions

January 11, 2013

Wondering which Fragile X trial is right? Eligibility varies, so most families qualify for just one. Talk with your closest clinic to find the best fit.

Reward Function in Fragile X Syndrome

September 2, 2012

Loss of FMRP disrupts dopamine-driven reward function—Fragile X mice show impaired cocaine sensitization and place preference, revealing new plasticity defects.

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

August 22, 2012

Researchers found that Fragile X brain circuits show faulty ion channel activity (channelopathies). Fixing these channels may restore normal brain signalling.

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

April 30, 2011

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.

Aberrant Behavior Checklist in Fragile X Syndrome

February 1, 2010

With a $10,000 FRAXA grant, Dr. David Hessl at UC Davis analyzed the Aberrant Behavior Checklist as a key outcome measure for Fragile X. Results were published.

Iryna Ethell, PhD, at University of California

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

February 2, 2009

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.

Thomas Dockendorff, PhD, of University of Tennessee, FRAXA research grant

Novel Functions of Drosophila FMRP

February 2, 2009

Backed by a $120,000 FRAXA grant, Dr. Thomas Dockendorff’s University of Tennessee team explored Fragile X protein function through fly genetics.

Wen-Biao Gan, PhD, of New York University, FRAXA research grant

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

February 14, 2008

FRAXA-funded research by Dr. Wen-Biao Gan at NYU visualized brain plasticity in Fragile X mice, revealing when neural connections form or go awry.

Ravi Allada, MD, at Northwestern University, FRAXA research grant

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

February 14, 2008

With FRAXA funding, Dr. Ravi Allada’s team at Northwestern University studied Fragile X fruit flies to uncover causes of sleep and activity disturbances.

Craig Erickson, MD, at Indiana University School of Medicine, FRAXA research grant

Clinical Trial of Aripiprazol in Fragile X Syndrome

September 1, 2007

With FRAXA funding, Dr. Craig Erickson tested aripiprazole (Abilify) in Fragile X. Ten of 12 participants improved—promising results that were published.

Jay Gibson, PhD, at University of Texas at Southwestern, FRAXA research grant

Decreased Excitatory Drive onto Parvalbumin-Positive Neocortical Inhibitory Neurons in a Mouse Model of Fragile X Syndrome

February 6, 2007

Drs. Jay Gibson and Kimberly Huber used FRAXA funding to uncover whether disrupted brain inhibition drives Fragile X, paving the way for targeted therapies.