FMR Expression in Zebra Finch
With a $18,500 grant from FRAXA Research Foundation in 2006, Dr. Stephanie Ceman from the University of Illinois studied Fragile X in zebra finches to better understand the impairments of verbal expression in individuals with Fragile X syndrome. Results published.
Transgenic Mouse Models of Fragile X Syndrome
With $736,000 in grants from FRAXA Research Foundation over 2000-2007, Dr. Robert Bauchwitz at Columbia University developed 15 transgenic mouse models of Fragile X syndrome, using them to evaluate a range of experimental treatments. Results published.
Composition and Dynamics of FMRP-Containing RNP Complexes
FRAXA Research Foundation funded a grant of $30,000 in 2005 to Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein.
Role 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.
Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice
With $40,000 in funding from FRAXA Research Foundation in 2005, Dr. Karel Svoboda and his team at the Cold Spring Harbor Laboratory imaged neocortical circuits in Fragile X mice to determine the functions of the abnormal dendritic spines found in Fragile X syndrome.
Transport, Anchoring and Translation of FMRP-Associated mRNAs
With a $40,000 grant from FRAXA Research Foundation in 2005, Dr. Vladimir Gelfand and his team at Northwestern University studied the mechanisms of mGluR and mRNA and how it relates to FMRP.
Reactivating the FMR1 Gene
With a $171,600 grant from FRAXA Research Foundation from 1998-2004, Dr. Andre Hoogeveen and his team at Erasmus University researched methods to reactivate the Fragile X gene.
FMRP Function in the Xenopus Visual System
With a $75,000 grant from FRAXA Research Foundation from 2003-2004, Dr. Holly Cline and her team at Cold Spring Harbor Labratory studied Fragile X proteins and related mRNA regulations in tadpoles.
Fragile X Syndrome and RNAi
With a $75,000 grant from FRAXA Research Foundation from 2003-2004, Dr. Richard Carthew and his team at Northwestern University studied their interest in gene expression by investigating the role of the recently discovered process of interfering RNA (RNAi). FMRP appears to be involved in the metabolism of RNAi, and may have a role in regulating the process; likewise, deficits in RNAi may contribute to the disease process in Fragile X.
Generating Human Neurons Carrying the Fragile X Mutation
With a $50,000 grant from FRAXA Research Foundation, Dr. Clive Svendsen and his team at the University of Wisconsin grew neural stem cells that expressed the Fragile X mutation to help scientists better understand the gene characteristics.
Xenopus (Frog) Model System of Fragile X and Related Proteins
With a $50,000 grant from FRAXA Research Foundation from 2002-2004, Dr. Edouard Khandjian and his team at Laval University studied the functions of FMR1 and the related genes FXR1 and FXR2 in frogs.
Fruit Fly Helps Reveal the Secrets of Fragile X
With a $50,000 grant from FRAXA Research Foundation from 2003-2004, Dr. Bassem Hassan and his team at Flanders University researched how Fragile X fruit flies can help further future studies for Fragile X treatment research.
Role of Experience in Regulating Levels of the Fragile X Protein
FRAXA awarded $29,000 in 2001 and $20,000 in 2000 to Kenneth J. Mack, MD, PhD — Mayo Clinic with Peter K. Todd, MD, PhD, Postdoctoral Fellow. While a professor at University of Wisconsin-Madison, Dr. Mack investigated whether and how FMRP levels are regulated in response to neuronal stimulation in vivo (in live animals). He looked at the effects of seizures and of experience in his experiments. Dr. Mack and colleagues published their findings.
FMR1 Gene Delivery Using Herpes Simplex Virus Vectors
With $89,000 from FRAXA Research Foundation over 2001-2005, Dr. David Bloom investigated gene therapy for Fragile X. The Bloom lab specializes in the development of gene therapy techniques, and they have succeeded in transferring the Fragile X gene (fmr1) into the brains of live mice, using viral vectors. They studied ways to enhance this process, with the ultimate goal of gene therapy for people with Fragile X.
Dendritic Spine Formation and Fragile X
With a $35,000 grant from FRAXA Research Foundation in 2003, Dr. Jay Brenman and his team at the University of North Carolina utilized the fruit fly (Drosophila) to model disease and examined the fly model of Fragile X in an effort to understand the basic mechanisms of disease.
DFXR and Synaptic Tagging in Drosophila (Fruit Flies)
With a $135,000 grant from FRAXA Research Foundation from 2001-2003, Dr. Jerry Yin and his team at the University of Wisconsin researched memory formation in Fragile X fruit flies. Dr. Yin started his Fragile X studies at Cold Spring Harbor Laboratory before moving to the Waisman Center.
Understanding the Function of Fragile X Protein in Drosophila
With a $105,000 grant from FRAXA Research Foundation from 2000-2003, Drs. Haruhiko Siomi and Mikko Siomi at Tokushima University researched approaches to characterize the Drosophila homolog of FMR1 and its associated molecules, and to identify molecular pathways that are involved in the cellular processes which are affected by the loss-of-function of Drosophila FMR1.
FMR1 Repression and the Signals to Chromatin
With a $70,000 grant from FRAXA Research Foundation from 2001-2003, Dr. Assam El-Osta and his team at the Peter MacCallum Cancer Institute studied mechanisms of methylation dependent silencing of FMR1, as well as regulation by histone acetylation/deacetylation.
Molecular Basis of Increased Seizure Severity in the Fragile X Knockout Mouse
With a $50,000 grant from FRAXA Research Foundation from 2002-2003, Dr. Carl Dobkin and his team at the New York Institute for Basic Research studied the causes for heightened seizure activity in Fragile X mice. Results published.
Isolating and Characterizing the mRNAs That Bind FMRP
With $60,000 in grants from FRAXA Research Foundation from 1998-1999, Dr. Robert Denman and his team at the New York State Institute for Basic Research explored how FMRP possibly functions.
Treatment of a Mouse Model of Fragile X Syndrome with MPEP
With a $49,000 grant from FRAXA Research Foundation in 2003, Dr. Linda Crnic at the University of Colorado continued studies of MPEP in Fragile X mice, exploring whether chronic use improves symptoms of Fragile X syndrome without impairing cognitive function.
Structure of FMRP
With a $68,000 grant from FRAXA Research Foundation from 2001-2002, Dr. Lynne Regan at Yale University studied different protein shapes and how they contributed towards different functions for Fragile X syndrome. Results published.
Prospects For Gene Therapy in the Fragile X
With a $90,000 grant from FRAXA Research Foundation from 2000-2002, Dr. Mario Rattazzi at the New York State Institute for Basic Research explored gene therapy: ways to transfer the FMR1 gene across the blood-brain-barrier in normal rats and mice, and then in FMR1 knockout mice. Results published.
A Genetic Screen For Dominant Modifiers of Drosophila (Fruitfly) FMR
With a $35,000 grant from FRAXA Research Foundation in 2002, Dr. Kevin Moses and his team at Emory University studied fruit fly eye phenotypes to screen for genes that function in the Fragile X pathway.