News & Updates • Page 21 of 26 • FRAXA Research Foundation - Finding a Cure for Fragile X Syndrome

NPR, “Progress Made On Drug For Autism Symptoms”

September 20, 2012

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.

Dr. Kimberly Huber

A Developmental Switch Exists in the Effects of FMRP

September 19, 2012

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.

Fragile X Researcher, Cara Westmark, PhD

Ab-Mediated Translation in Fragile X Syndrome

September 13, 2012

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

September 11, 2012

Fragile X neurons show excess or mis-timed actin remodeling at synapses caused by FMRP loss. Modulating actin regulators rescued connectivity in mice.

What Works, and What Doesn’t

September 7, 2012

Early on, no one knew which path would work. Now the results are clear, and they’re directing FRAXA toward the next major Fragile X treatment breakthrough.

Genetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value

September 2, 2012

Targeting the PI3K/mTOR cascade — specifically p110β — in Fragile X mice reversed neural and behavioral dysfunctions, validating it as a treatment pathway.

Christopher Cowan, PhD

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.

A Metabolomic Drug Efficacy Index to Test Treatments in the Fragile X Mouse

September 1, 2012

This work revealed small-molecule metabolic changes in Fragile X brains and is using them to build a drug-efficacy index for screening therapies.

Andreas Frick, PhD

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.

Compound that Inhibits mGluR5 Corrects Signs of Fragile X in Adult Mice

April 13, 2012

A Roche and MIT study published in Neuron finds that an mGlu5 inhibitor, CTEP, can reverse many Fragile X symptoms in adult mice.

Spreading Sunshine

April 11, 2012

We’re deeply grateful to Doris Buffett and her Sunshine Lady Foundation for donating over $3M to FRAXA and inspiring Fragile X families.

FRAXA Announces 2012 Fragile X Research Awards

April 3, 2012

$1.13 million in FRAXA funding in 2012 supported new Fragile X research projects and renewals, advancing work toward better treatments.

Juan Bacigalupo

In Vitro Coherent Network Activity

February 22, 2012

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

January 31, 2012

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

January 31, 2012

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

January 30, 2012

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

October 31, 2011

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

September 15, 2011

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

May 8, 2011

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

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.

Fragile X Research Grants and Fellowships Funded 2011

April 7, 2011

Over $1 million in FRAXA funding in 2011 supported leading Fragile X research projects focused on developing effective treatments and future cures.

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

Clinical Trials Outcome Measures

February 22, 2011

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

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.

GABAergic Inhibitory Function in Fragile X Syndrome

February 1, 2011

Fragile X mice show weakened GABAergic inhibition in key brain regions like the amygdala. Enhancing GABA_A receptor activity reduced hyperactivity and improved inhibition.

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FRAXA Funded Research

Current Research Grants (41)