autism Archives • Page 6 of 6 • FRAXA Research Foundation - Finding a Cure for Fragile X Syndrome

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.

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.

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.

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.

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.

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.

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.

3 Researchers Honored at FRAXA Investigators Meeting

October 4, 2008

FRAXA’s 2008 Investigators Meeting brought together 150+ researchers from around the world to collaborate and speed new Fragile X therapies.

Anita Bhattacharyya

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.

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.

Leonard Kaczmarek, PhD

Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse

January 9, 2007

Dr. Leonard Kaczmarek’s Yale lab revealed how Fragile X disrupts potassium channels, impairing auditory processing and fueling sensory overload.

Social Deficits in Fragile X Syndrome: Do Gene-Gene Interactions Play a Role?

February 13, 2006

FRAXA’s $100K grant supported Drs. Jean Lauder and Sheryl Moy at UNC in exploring gene–gene interactions in Fragile X.

Walter Kaufman, MD, PhD, at Johns Hopkins University, FRAXA research grant

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

February 13, 2006

FRAXA’s $143K grant supported Drs. Kaufmann, Huganir, Worley, and Lieberman at Johns Hopkins in studying mGluR dynamics in Fragile X mice.

Justin Fallon, PhD, Brown University, FRAXA research grant

Transcriptional Regulation of the Fragile X Gene

February 13, 2006

FRAXA’s $60K grant supported Dr. Justin Fallon’s Brown team in mapping Fragile X granules and uncovering FMRP’s presynaptic role.

Thomas Tuschl, PhD, at Rockefeller University, FRAXA research grant

Role of MicroRNAs in Fragile X Syndrome

February 22, 2005

A $70K FRAXA grant helped Drs. Thomas Tuschl and Neil Renwick study FMRP–miRNA links to identify better treatment targets for Fragile X.

Robert Darnell, MD, PhD, at Rockefeller University, FRAXA research grant

Identification of Specific RNA Targets of FMRP

February 27, 2001

FRAXA-funded Dr. Darnell’s Rockefeller team uncovered how FMRP works and how its absence alters brain function. Published results.

Claudia Bagni, PhD, at University of Rome, FRAXA research grant

Molecular Interactions Between FMRP and Protein Translation Apparatus

February 27, 2001

FRAXA-funded Dr. Bagni uncovered how Fragile X disrupts protein synthesis control, advancing molecular understanding. Published results.

Melatonin Clinical Trial in Fragile X

February 27, 2000

FRAXA-funded Dr. Hagerman’s UC team explored melatonin’s effects in Fragile X, advancing understanding of treatment options. Results published.

Longitudinal Study of Children with Fragile X

February 27, 2000

With $30K from FRAXA, Dr. Don Bailey’s UNC team studied how children with Fragile X develop, focusing on learning, language, and behavior.

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FRAXA Funded Research

Current Research Grants (41)