Research Archives • Page 9 of 12 • FRAXA Research Foundation

The Role of FMRP and Small, Non-Coding RNAs in Translation

February 1, 2010

Drs. Henri Tiedge and Jun Zhong investigated how BC1 RNA could restore balance in Fragile X brains, pointing toward RNA-targeted treatments.

Stephen Haggarty, PhD, Harvard/MIT, Principal Investigator, FRAXA research grant

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

February 1, 2010

With a $219,500 FRAXA grant, Dr. Stephen Haggarty at Harvard/MIT used patient-derived stem cells to screen drugs targeting GSK3, aiming to enhance lithium therapy.

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.

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Role of the Cerebellum in the Dysfunction of Fragile X Syndrome

February 26, 2009

With FRAXA funding, Dr. Ben Oostra’s Dutch-Belgian team linked Fragile X to cerebellar motor learning deficits. Results published in Neuron (2008).

Sean McBride, PhD, Albert Einstein College of Medicine, FRAZA research grant

Developing Fragile X Treatments in Fruit Flies and Mice

February 26, 2009

FRAXA’s $380K grant supported Drs. McBride, Jongens, and Choi in validating Fragile X treatments in mice to prepare for trials. Findings published.

Imaging Synaptic Structure and Function in Fragile X Mice

February 5, 2009

With $150K from FRAXA, Dr. Carlos Portera-Cailliau studied Fragile X mouse brains to examine dendrite structure and mGluR5 treatment effects.

Genome-wide Epigenetic Markers in Fragile X

February 5, 2009

Dr. Miklos Toth’s FRAXA-funded work at Cornell University examined how epigenetic factors shape the severity of Fragile X symptoms.

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.

Basic Mechanisms of Disease and Potential Therapeutic Strategies

February 2, 2009

Dr. Stephen Warren’s FRAXA-funded research at Emory led to the Fragile X gene discovery and new breakthroughs using stem cells and model systems.

Altered Cyclic AMP Signaling in Fragile X

March 20, 2008

FRAXA-funded research by Dr. Anita Bhattacharyya at the Waisman Center revealed key insights into cyclic AMP signaling in Fragile X. Findings were published.

Glutamate Metabolism in Fragile X Mouse Brain

February 15, 2008

Dr. Mary McKenna’s FRAXA-funded study at the University of Maryland examined how mGluR activity impacts key brain pathways linked to Fragile X.

James Malter, at University of Wisconsin-Madison, FRAXA research grant

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

February 14, 2008

With FRAXA funding, Drs. James Malter and Cara Westmark studied how APP and its metabolite may drive excess protein synthesis in Fragile X, aiming to restore balance.

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.

AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X

February 14, 2008

FRAXA’s $104K grant supported Dr. Julie Lauterborn at UC in studying dendritic spines and memory-related treatment targets in Fragile X mice.

Peter Kind, PhD, of University of Edinburgh, FRAXA research grant

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

February 14, 2008

FRAXA-funded research by Dr. Peter Kind at the University of Edinburgh explored how FMRP interacts with brain development to impact Fragile X.

Targeting the Role of Group 1 Metabotropic Glutamate Receptors

February 14, 2008

Dr. Huibert Mansvelder’s FRAXA-funded study at the University of Amsterdam examined receptor responses to drugs, revealing new therapeutic insights.

Effects of Alternative Splicing at FMR1 Exon 15 on Understanding Fragile X Syndrome

February 14, 2008

FRAXA-funded research by Dr. Robert Denman explored how exon 15 affects FMRP protein splicing—offering insights into Fragile X molecular mechanisms.

Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish

February 6, 2008

Dr. Robert Richards and his Adelaide team used FRAXA funding to explore zebrafish models, revealing early clues to Fragile X treatment pathways.

In Vitro Reactivation of the Fragile X Gene

January 14, 2008

With FRAXA funding, Dr. Giovanni Neri’s team in Italy explored reactivating the FMR1 gene and studying cell lines with unmethylated full mutations.

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.

Randall Carpenter, MD, at Massachusetts Institute of Technology, FRAXA research grant

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

July 9, 2007

With support from FRAXA, Seaside Therapeutics developed STX107, an mGluR5 antagonist for Fragile X. Though development ended, it advanced key clinical insights.

Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis

March 21, 2007

Dr. Abdeslem El Idrissi’s FRAXA-funded study tested somatostatin and taurine in Fragile X mice, revealing taurine’s promise as an accessible therapy.

The Role of FMRP and Small, Non-Coding RNAs in Translation

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

Aberrant Behavior Checklist in Fragile X Syndrome

Role of the Cerebellum in the Dysfunction of Fragile X Syndrome

Developing Fragile X Treatments in Fruit Flies and Mice

Imaging Synaptic Structure and Function in Fragile X Mice

Genome-wide Epigenetic Markers in Fragile X

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

Novel Functions of Drosophila FMRP

Basic Mechanisms of Disease and Potential Therapeutic Strategies

Altered Cyclic AMP Signaling in Fragile X

Glutamate Metabolism in Fragile X Mouse Brain

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

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

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

Targeting the Role of Group 1 Metabotropic Glutamate Receptors

Effects of Alternative Splicing at FMR1 Exon 15 on Understanding Fragile X Syndrome

Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish

In Vitro Reactivation of the Fragile X Gene

Clinical Trial of Aripiprazol in Fragile X Syndrome

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis

Support FRAXA

Get In Touch!

Explore Fragile X & Research

Get FRAXA Updates