News & Updates • Page 22 of 26 • FRAXA Research Foundation

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.

The Slack Potassium Ion channel is a Therapeutic Target for Fragile X

January 7, 2011

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).

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

Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

November 14, 2010

With $65K from FRAXA, Dr. Berry-Kravis at Rush University ran a pilot lithium trial in 15 Fragile X patients. Results published.

Encouraging Results from First Trial of Minocycline in Fragile X

October 10, 2010

A clinical trial of minocycline in children with Fragile X found significantly better global improvement vs. placebo, supporting its safety and potential.

FRAXA 2010 Research Awards Funded

July 11, 2010

Over $1.5 million in FRAXA funding supported Fragile X research and fellowships in 2010, empowering scientists to pursue breakthrough treatments.

Reactivation of the FMR1 Gene

February 22, 2010

The team screened compounds with Neuropharm (UK) looking for compounds to reactivate the FMR1 gene. They also analyzed unmethylated full mutation cell lines.

Small Molecule Screen Using Fragile X Neural Stem Cells

February 1, 2010

Researchers found that FMRP-deficient neural stem cells divide too much and fail to mature properly; screening compounds revealed candidates restoring normal behavior.

Neuromotor Outcome Measures for Clinical Trials in Fragile X Syndrome

February 1, 2010

Drs. Nicole Tartaglia and Tracey Stackhouse advanced neuromotor testing for Fragile X, paving the way for better-targeted clinical trials.

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.

Composition and Localization of Dendritic mRNAs in Fragile X Syndrome

July 9, 2009

With an $80,000 FRAXA grant, Drs. Smith and Wang developed a system to visualize proteins and mRNAs in Fragile X neurons, revealing how regulation goes awry.

Results of First Fenobam Trial in Adults with Fragile X Published

July 1, 2009

Fenobam showed positive results in a Phase IIa Fragile X trial. FRAXA supplied data that helped the drug earn Orphan status and move into clinical testing.

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.

Mouse Models of Fragile X Syndrome

February 5, 2009

With FRAXA support, Dr. Oostra’s team built the first Fragile X mouse model and published pivotal studies advancing the field.

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.