Splicing Variations of the Fragile X Gene

Splicing Variations of the Fragile X Gene

With an $80,000 grant from FRAXA Research Foundation from 2005-2006, Dr. David Morris and his team at the University of Washington team aimed to understand the variation in distribution and function of FMRP isoforms, sought to identify isoforms of FMRP in mouse brain, and define the expression pattern of these versions of the protein.

Read more

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

Social 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 more

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

Metabotropic 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 more

Role of FMRP Interacting Protein CYFIP1 in Prader-Willi and Fragile X Syndromes

Role of FMRP Interacting Protein CYFIP1 in Prader-Willi and Fragile X Syndromes

With a $105,000 grant from FRAXA Research Foundation from 2005-2006, Dr. Yong-Hui Jiang at Baylor College of Medicine explored the relationship between Fragile X syndrome and Prader-Willi syndrome.

Read more

Drosophila CYFIP, a Molecular Link Between Actin Cytoskeleton Remodeling and Fragile X

Drosophila CYFIP, a Molecular Link Between Actin Cytoskeleton Remodeling and Fragile X

With $130,000 in funding from FRAXA Research Foundationfrom 2004-2006, Dr. Angela Giangrande at the Universite Louis Pasteur investigated the interactions between dendrites, messenger mRNA, and the cytoskeleton in fruit flies, which are a simple yet powerful system in which multiple genes can be manipulated with relative ease.

Read more

Genetic and Behavioral Analyses of the dFMR1 Pathway in Drosophila Peripheral Nervous System

Genetic and Behavioral Analyses of the dFMR1 Pathway in Drosophila Peripheral Nervous System

With a $160,000 grant from FRAXA Research Foundation from 2004-2006, Dr. Fen-Biao Gao and his team at the University of California studied the relationship between mRNA and FMRP.

Read more

Transcriptional Regulation of the Fragile X Gene

Transcriptional Regulation of the Fragile X Gene

With a $95,000 grant from FRAXA Research Foundation from 2001-2006, 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 more

Alterations in Neocortical Neuron Excitability Associated with Fragile X

Alterations in Neocortical Neuron Excitability Associated with Fragile X

With a $107,000 grant from FRAXA Research Foundation from 2005-2006, Dr. Charles Cox at the University of Illinois looked for alterations in the intrinsic excitability of individual neurons within the visual neocortex in Fragile X syndrome.

Read more

Pharmacologic Interventions in the Fmr1 KO Mouse

Pharmacologic Interventions in the Fmr1 KO Mouse

With $48,600 in grants from FRAXA Research Foundation over 2004-2006, Dr. Catherine Choi at Drexel University studied Fragile X knockout mice to determine future treatment targets for Fragile X syndrome in humans.

Read more

FMR Expression in Zebra Finch

FMR Expression in Zebra Finch

With a $18,500 grant from FRAXA Research Foundation in 2006, Dr. Stephanie Ceman fromthe 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.

Read more

Transgenic Mouse Models of Fragile X Syndrome

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.

Read more

The Role of MicroRNAs in the Pathogenesis of Fragile X

The Role of MicroRNAs in the Pathogenesis of Fragile X

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 more

Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

With $70,000 in funding from FRAXA Research Foundation in 1999 and 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.

Read more

Connection Between Fragile X Syndrome and RNAi

Connection Between 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.

Read more

Generating Human Neurons Carrying the Fragile X Mutation

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. 

Read more

Role of Experience in Regulating Levels of the Fragile X Protein

Role of Experience in Regulating Levels of the Fragile X Protein

FRAXA Research Grant to Kenneth J. Mack, MD, PhD — Mayo Clinic with Peter K. Todd, MD, PhD, Postdoctoral Fellow   FRAXA Awards: $29,000 in 2001 $20,000 in 2000 Final Report on Dr. Mack’s Project 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 in the Proceedings of the National Academy of Sciences: The Fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95 Peter K. Todd, Kenneth J. Mack, and James S. Malter PNAS | November 25, 2003 | vol. 100 | no. 24

Read more

A Genetic Model for Understanding Dendritic Spine Formation and Fragile X

A Genetic Model for Understanding 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.

Read more

DFXR and Synaptic Tagging in Drosophila (Fruit Flies)

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.

Read more

Understanding the Function of Fragile X Protein in Drosophila

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.

Read more

FMR1 Repression and the Signals to Chromatin

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.

Read more