NPR, “Progress Made On Drug For Autism Symptoms”
An experimental drug that helps people who have Fragile X syndrome is raising hopes of a treatment for autism. The drug, called arbaclofen, made people with Fragile X syndrome less likely to avoid social interactions, according to a newly published study. Researchers suspect it might do the same for people with autism.
A Developmental Switch Exists in the Effects of FMRP
Fragile X research found that FMRP’s role in synapse development changes with age—early on it builds synapses, later it removes them—via MEF2 signaling.
Ab-Mediated Translation in Fragile X Syndrome
This work found amyloid precursor protein (APP) overexpression and increased β-amyloid in Fragile X mice, implicating Alzheimer-related pathways in FXS pathology.
Synaptic Actin Signaling Pathways in Fragile X
Fragile X neurons show excess or mis-timed actin remodeling at synapses caused by FMRP loss. Modulating actin regulators rescued connectivity in mice.
Genetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value
Targeting the PI3K/mTOR cascade — specifically p110β — in Fragile X mice reversed neural and behavioral dysfunctions, validating it as a treatment pathway.
Reward Function in Fragile X Syndrome
Loss of FMRP disrupts dopamine-driven reward function—Fragile X mice show impaired cocaine sensitization and place preference, revealing new plasticity defects.
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.
Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice
Researchers found that Fragile X brain circuits show faulty ion channel activity (channelopathies). Fixing these channels may restore normal brain signalling.
FRAXA Announces 2012 Fragile X Research Awards
In 2012, Fragile X Research was awarded $1,132,923 in new program grants, postdoctoral fellowships, and renewals. We are funding over $846,000 in new projects; renewals totalling $285,678 and will increase as additional projects reach their one year mark. View report here.
In Vitro Coherent Network Activity
This work revealed that Fragile X neurons form disordered network dynamics—laying groundwork for using network activity as a treatment-screening metric.
Role of JNK in FMRP Regulated Translation in Fragile X Syndrome
JNK kinase is abnormally active in Fragile X model mice and directly regulates mGluR-dependent translation of FMRP targets, pointing to JNK as a therapeutic target.
Serotonergic Rescue of Synaptic Plasticity in FMR1 Knockout Mice
Dr. Zhu examined how serotonin-targeting drugs such as Buspar and Abilify influence synaptic plasticity, including LTP and LTD.
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.
160 scientists and dozens of parents attended the FRAXA Investigators Meeting
Researchers met in Southbridge, MA, to advance Fragile X treatments. Congrats to Drs. Bear, Osterweil & Berry-Kravis on their awards!
Channelopathies: Altered Ion Channels in Fragile X Syndrome
Ion channel defects (“channelopathies”) in Fragile X disrupt neuron firing and network balance. This study maps these channel changes to guide targeted treatments.
Role of Excessive Protein Synthesis in the Ontogeny of FXS
Excessive neuronal protein synthesis is not just a symptom but appears to cause early synaptic wiring defects in Fragile X — highlighting translation control as a key target.
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.
Fragile X Research Grants and Fellowships Funded 2011
In 2011, FRAXA awarded over $1 million for Fragile X research, funding top new projects to speed discovery of effective treatments and, ultimately, a cure.
Clinical Trials Outcome Measures
In Fragile X participants, low-dose lithium showed benefits and helped refine biomarkers and behavioral assessments.
Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice
Fragile X mice show reduced basal cAMP and exaggerated mGluR-LTD; boosting cAMP or blocking specific adenylyl cyclases rescues synaptic and behavioral defects.
GABAergic Inhibitory Function in Fragile X Syndrome
Fragile X mice show weakened GABAergic inhibition in key brain regions like the amygdala. Enhancing GABA_A receptor activity reduced hyperactivity and improved inhibition.
Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1
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.
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).
Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results
With $65K from FRAXA, Dr. Berry-Kravis at Rush University ran a pilot lithium trial in 15 Fragile X patients. Results published.