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.
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3 Researchers Honored at FRAXA Investigators Meeting
Over 150 scientists from around the globe gathered in Durham, New Hampshire, for FRAXA Research Foundation’s Investigators Meeting on September 21-24, 2008. They came from Australia, Canada, India, Turkey, the U.S., and eight European countries. Their common goal: “to share, collaborate and publish,” in the words of FRAXA’s Medical Director, Michael Tranfaglia, MD, to find effective treatments and a cure for Fragile X, the foremost inherited cause of mental retardation and autism. Most of the attendees were university-based professors, postdoctoral fellows, and graduate students who have FRAXA research grants. Also participating in the meeting were scientists from the National Institutes of Health (NIMH, NICHD, and NINDS), Neuropharm Group PLC, Hoffman LaRoche Inc., GlaxoSmithKline, Indevus, and Seaside Therapeutics, as well as 20 parents of Fragile X children.
Read moreAltered 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.
Read moreFRAXA 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.
Read moreElectrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse
With $80,000 in funding from FRAXA over several years, the Yale University team of Leonard Kaczmarek, PhD showed that loss of FMRP leads to an increased Kv3.1 potassium currents. This change impairs timing of action potentials in auditory neurons (and likely others throughout the brain).
Read moreSocial Deficits in Fragile X Syndrome: Do Gene-Gene Interactions Play a Role?
With a $100,000 grant from FRAXA Research Foundation from 2005-2006, Drs. Jean Lauder and Sheryl Moy at the University of North Carolina looked for gene-gene interactions in Fragile X syndrome.
Read moreMetabotropic Glutamate Receptor Function in Fragile X Knockout Mice
With $143,000 in grants from FRAXA Research Foundation from 2004-2006, Drs. Walter Kaufmann, Richard Huganier, Paul Worley, and David Lieberman at Johns Hopkins University studied the molecular dynamics of mGluRs in areas involved in cognition in the Fragile X knockout mouse.
Read moreTranscriptional Regulation of the Fragile X Gene
With a $60,000 in grant from FRAXA Research Foundation, Dr. Justin Fallon and his team at Brown University studied systematic mapping of Fragile X granules in developing mouse brains, revealing a potential role for presynaptic FMRP in sensorimotor functions.
Read moreRole of MicroRNAs in Fragile X Syndrome
With a $70,000 grant from FRAXA Research Foundation from 2004-2005, Drs. Thomas Tuschl and Neil Renwick and their team at Rockefeller University researched how FMRP interacts with miRNA in order to determine more effective treatment targets for Fragile X syndrome.
Read moreIdentification of Specific RNA Targets of FMRP
With a $70,000 grant from FRAXA Research Foundation from 1999-2001, Dr. Robert Darnell and his team at Rockefeller University made significant contributions towards understanding how FMRP functions and how the brain is affected without it. Results published.
Read moreMolecular Interactions Between FMRP and Protein Translation Apparatus
With a $65,000 grant from FRAXA Research Foundation from 2000-2001, Dr. Claudia Bagni focused on understanding the specific molecular interactions which regulate protein synthesis, and how they are altered in Fragile X. Dr. Bagni has moved from the University of Rome to VIB in Leuven, Belgium. Results published.
Read moreMelatonin Clinical Trial in Fragile X
With a $60,000 grant from FRAXA Research Foundation from 1998-1999, Dr. Randi Hagerman and her team at the University of California studied the effects of different compounds on individuals with Fragile X syndrome, focusing specifically on melatonin. Results published.
Read moreLongitudinal Study of Children with Fragile X
With a $30,000 grant from FRAXA Research Foundation in 2000, Dr. Don Bailey and his team at the University of North Carolina studied the longitudinal development of children, with a focus on educational strategies and development of language. They have contributed greatly to our understanding of the course of Fragile X over a lifetime, as well as the frequency of autism and other behavioral complications in the Fragile X population.
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