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.
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.
Neuromotor Outcome Measures for Clinical Trials in Fragile X Syndrome
Drs. Nicole Tartaglia and Tracey Stackhouse advanced neuromotor testing for Fragile X, paving the way for better-targeted clinical trials.
Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome
With a $219,500 grant from FRAXA Research Foundation, Dr. Stephen Haggarty from Havard/MIT developed a high-throughput drug screen to find compounds that inhibit GSK3, a critical enzyme in Fragile X. He looked for compounds that can accomplish this either alone or in combination with lithium, offering the possibility of enhancing the effectiveness of lithium as a treatment. His drug screen used patient-specific neural progenitor (NP) cells derived from human induced pluripotent stem cells (iPSCs) – which are created from cells in a skin biopsy from people with Fragile X syndrome (FXS) and other autism spectrum disorders.
Aberrant Behavior Checklist in Fragile X Syndrome
With a $10,000 grant from FRAXA Research Foundation, Dr. Hessl at the University of California at Davis led a collaborative study to analyze the Aberrant Behavior Checklist (ABC) as an outcome measure for children and adults with Fragile X syndrome. Results published.
Results of First Fenobam Trial in Adults with Fragile X Published
We are pleased to announce the publication of positive results of a Phase IIa clinical trial of fenobam in Fragile X. Fenobam belongs to a class of compounds known as mGluR5 antagonists. Neuropharm, a specialty pharmaceutical company based in the U.K., received Orphan Drug Designation in the US in 2006 for fenobam in the treatment of Fragile X, after acquiring rights to relevant data on the compound from FRAXA. This trial was conducted in the US by Drs. Randi Hagerman of the UC Davis MIND Institute and Elizabeth Berry-Kravis of the RUSH University Medical Center, and initial results were first announced last summer.
Role of Matrix Metalloproteinases (MMP-9) in Fragile X
With a $220,000 grant from FRAXA Research Foundation over 3 years, Dr. Iryna Ethell from the University of California at Riverside studied the regulation of dendritic structure by matrix metalloproteinases and other extracellular signaling pathways. This work identified a major treatment strategy for Fragile X with the available MMP-9 inhibitor, minocycline.
3 Researchers Honored at FRAXA Investigators Meeting
Over 150 scientists from around the world gathered at FRAXA’s 2008 Investigators Meeting to share discoveries and speed treatments for Fragile X syndrome.
Altered Cyclic AMP Signaling in Fragile X
With $125,000 grant from FRAXA Research Foundation over 2006-2008, Dr. Anita Bhattacharyya at the University of Wisconsin Waisman Center investigated abnormalities in cyclic AMP signaling in Fragile X syndrome. Results published.
FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics
Randy Carpenter, MD Principal Investigator with Mark Bear, PhD, MIT Co-Investigator (2007) conducted a clinical development of mGluR5 antagonists to treat Fragile X Syndrome and Autism. Seaside Therapeutics received a major grant from the NIH, with additional funding from FRAXA and Cure Autism Now (CAN) to develop STX107, a selective mGluR5 antagonist, as a treatment for Fragile X. Unfortunately, Seaside has since discontinued development of STX107.
Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse
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?
FRAXA’s $100K grant supported Drs. Jean Lauder and Sheryl Moy at UNC in exploring gene–gene interactions in Fragile X.
Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice
FRAXA’s $143K grant supported Drs. Kaufmann, Huganir, Worley, and Lieberman at Johns Hopkins in studying mGluR dynamics in Fragile X mice.
Transcriptional Regulation of the Fragile X Gene
FRAXA’s $60K grant supported Dr. Justin Fallon’s Brown team in mapping Fragile X granules and uncovering FMRP’s presynaptic role.
Role of MicroRNAs in Fragile X Syndrome
A $70K FRAXA grant helped Drs. Thomas Tuschl and Neil Renwick study FMRP–miRNA links to identify better treatment targets for Fragile X.
Identification of Specific RNA Targets of FMRP
FRAXA-funded Dr. Darnell’s Rockefeller team uncovered how FMRP works and how its absence alters brain function. Published results.
Molecular Interactions Between FMRP and Protein Translation Apparatus
FRAXA-funded Dr. Bagni uncovered how Fragile X disrupts protein synthesis control, advancing molecular understanding. Published results.
Melatonin Clinical Trial in Fragile X
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
With $30K from FRAXA, Dr. Don Bailey’s UNC team studied how children with Fragile X develop, focusing on learning, language, and behavior.