News & Updates • Page 22 of 24 • FRAXA Research Foundation

Splicing Variations of the Fragile X Gene

FRAXA Research Foundation February 13, 2006December 12, 2019

With an $80,000 grant from FRAXA Research Foundation from 2005-2006, Dr. David Morris and his team at the University of Washington 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.

Joseph LeDoux, PhD, at New York University, FRAXA research grant

Examining the Amygdala in Mouse Models of Fragile X

FRAXA Research Foundation February 13, 2006December 12, 2019

With a $63,000 grant from FRAXA Research Foundation in 2006, Dr. Joseph LeDoux and his team at New York University studied the role of the amygdala in Fragile X syndrome using mouse models.

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

FRAXA Research Foundation February 13, 2006April 25, 2018

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.

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

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

FRAXA Research Foundation February 13, 2006April 30, 2018

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.

Yong-Hui Jiang, PhD, at Baylor College of Medicine, FRAXA research grant

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

FRAXA Research Foundation February 13, 2006August 9, 2018

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.

Angela Giangrande, PhD, Universite Louis Pasteur, FRAXA research grant

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

FRAXA Research Foundation February 13, 2006May 14, 2020

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.

Fen-Biao Gao, PhD, at University of California at San Fransico, FRAXA research award

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

FRAXA Research Foundation February 13, 2006June 20, 2018

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.

Justin Fallon, PhD, Brown University, FRAXA research grant

Transcriptional Regulation of the Fragile X Gene

FRAXA Research Foundation February 13, 2006January 9, 2019

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.

Charles Cox, PhD, at University of Illinois at Urbana-Champaign, FRAXA research grant

Alterations in Neocortical Neuron Excitability Associated with Fragile X

FRAXA Research Foundation February 13, 2006April 25, 2018

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.

Catherine Choi, Drexel University, FRAXA research grant

Pharmacologic Interventions in the Fmr1 KO Mouse

FRAXA Research Foundation February 13, 2006April 25, 2018

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.

Stephanie Ceman, PhD, at University of Illinois at Urbana-Champaign, FRAXA research grant

FMR Expression in Zebra Finch

FRAXA Research Foundation February 13, 2006December 12, 2019

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.

Robert Bauchwitz, MD, PhD, at Columbia University, FRAXA research grant

Transgenic Mouse Models of Fragile X Syndrome

FRAXA Research Foundation February 13, 2006August 13, 2018

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 September 20, 2005November 8, 2018

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.

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

Role of MicroRNAs in Fragile X Syndrome

FRAXA Research Foundation February 22, 2005March 21, 2019

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.

Karel Svoboda, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

FRAXA Research Foundation February 22, 2005August 5, 2021

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.

Vladimir Gelfand, PhD, at Northwestern University, FRAXA research grant

Transport, Anchoring and Translation of FMRP-Associated mRNAs

FRAXA Research Foundation February 15, 2005August 13, 2018

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

FRAXA Research Foundation February 27, 2004May 14, 2020

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.

Holly Cline, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

FMRP Function in the Xenopus Visual System

FRAXA Research Foundation February 27, 2004April 25, 2018

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

FRAXA Research Foundation February 27, 2004March 21, 2019

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.

Clive Svendsen, PhD, at University of Wisconsin, FRAXA research grant

Generating Human Neurons Carrying the Fragile X Mutation

FRAXA Research Foundation February 26, 2004April 25, 2018

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.

Edouard Khandijian, PhD, at Laval University, FRAXA research grant

Xenopus (Frog) Model System of Fragile X and Related Proteins

FRAXA Research Foundation February 26, 2004March 21, 2019

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

FRAXA Research Foundation February 26, 2004January 16, 2019

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.

Kenneth J. Mack, MD, PhD, at Mayo Clinic, FRAXA research grant

Role of Experience in Regulating Levels of the Fragile X Protein

FRAXA Research Foundation January 1, 2004December 12, 2019

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.

David Bloom, PhD, at University of Florida, FRAXA research grant

FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

FRAXA Research Foundation March 1, 2003March 21, 2019

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.

Jay Brenman, PhD, at University of North Carolina, FRAXA research grant

Dendritic Spine Formation and Fragile X

FRAXA Research Foundation February 27, 2003March 21, 2019

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.