CFXF Recent Grants To Scientists

A brief description of the projects currently funded by CFXF:

Drs. Howard Cedar and Aharon Razin of the Hebrew University of Jerusalem, Israel
The role of methylation in fragile X syndrome
Using Normal human cells and cells from FX patients to study the dynamics of DNA methylation at the FMR1 locus. 2000-2002

Dr. Michael Fry of Technion-Israel Institute of Technology, Israel
Protein-mediated unwinding of secondary structures of the fragile X syndrome
expanded sequence d(CGG)n
Working to resolve secondary structures of the FX expanded repeat sequence so that such agents may increase FMR1 expression in fragile X cells. 2000-2002

Dr. Menahem Segal of the Weizmann Institute of Science, Israel
The role of fragile x mental retardation protein in the development and functional
maturation of spine synapses in vitro
The objective of this project is to better understand the role of FMRP in synaptic structure and function in a controlled, in-vitro test system involving the tissue cultured neuron. Mental retardation, typical of patients with fragile x, may be manifested by abnormal and malfunctioning synaptic connections. 2000-2001

Dr. Giovanni Neri of the Catholic University in Rome, Italy
This project is based on the fact that in almost all fragile X patients the coding region of the fragile X gene (FMR1) is undamaged but "turned off" by a defect in the region of DNA that regulates the gene. Dr. Neri and his team are trying to reverse methylation and turn the gene back on. 2000-2002

Dr. Michael Fry of the Technion-Israel Institute of Technology and Dr. Giovanni Neri of the University Cattolica in Rome, Italy
Collaboration on strategies to enhance FMR1 transcription and FMRP synthesis in FX cells using high potency proteins and drugs to destabilize d(CGG) secondary structures. 2003-2005

Dr. Yolanda de Diego of the Carlos Haya Hospital Research Lab, Malaga, Spain
Conducting experiments involving vitamin E as a treatment to reverse the pathological status of fragile X. 2002

Dr. Frank Kooy of the University of Antwerp, Belgium
Constructing a novel fragile X mouse model with a more pronounced phenotype than the fragile X knockout model in use currently. 2003-2005

Dr. Assam El-Osta, Peter MacCallum Cancer Institute, Melbourne, Australia
"Profiling Chromatin-Dissecting the regulatory binding pattern of Fragile X chromosome in vivo."
Establishing a model of gene silencing and determining whether methylation-dependent repressors operate in a hypoacetylated chromatin context. 2002-2003

Dr. Menahem Segal of the Weizmann Institute of Science, Israel
Working to better understand the role of FMRP in synaptic structure and function in a controlled, in-vitro test system involving the tissue cultured neuron. 2000

Dr. Gary Bassell of The Albert Einstein College of Medicine, Rose Kennedy Center, NY
Integrating the complementary approaches to fragile X research developed in three different ways in order to foster an exchange of ideas, technology and resources. 2002-2003

Dr. Sofia Kelic of the Albert Einstein College of Medicine, Rose Kennedy Center, NY
Studying differences in fragile X syndrome of neuronal-activity regulated protein synthesis at synapses (the sites where neuronal cells communicate), by comparing mice expressing FMRP and mice that lack FMRP. 2004

The Neuroscience Discovery Lab of Dr. Claes Wahlestedt, Scripps, Florida, Jupiter, Florida
For fragile X investigation. 2006-2008

Dr. Gary Bassell, Emory University, Atlanta, GA and Dr. Menahem Segal, Weizmann Institute of Science, Israel
Imaging of the fragile X protein and role in mRNA translation and spine synapse regulation in hippocampal neurons. 2007

Dr. Sharon Eden, Hebrew University Medical School, Jerusalem, Israel
Regulation by Rac of the Fragile-X mental retardation protein activity. 2007-2008

Conference Travel Awards

Dr. Anita Bhattacharyya, Assistant Scientist, Unviersity of Wisconsin, at Madison, Waisman Center, Stem Cell Research Program.
“The Society for Neuroscience Annual Meeting” Atlanta, Georgia October 14-18, 2006

Charlotte D’Hulst, Ph.D. student, University of Antwerp, Centre of Medical Genetics, Belgium
“The National Fragile X Foundation 10th International Fragile X Conference” Atlanta, Georgia July 19-23, 2006

Chiara Carosi, Ph.D. student, Department of Neuroscience, Faculty of Medicine, University of Rome Tor Vergata.
“The Neurobiology of Fragile X” July 17-19, 2005 at Arden House Conference Center in Harriman, NY

Dr. Marta Rajkiewicz, PhD student, Institute of Psychiatry and Neurology, Warsaw, Poland
Congress 2006, Theux Belgium, May 5 through May 8, 2006

Dr. Vaishali Handa, Postdoctoral Fellow, Division of Biological Sciences, University of Montana, Missoula, MT
The Annual Meeting of the American Society for Human Genetics Salt Lake City, Utah, October 26-29, 2005

Florida Fragile X Research Conference, Palm Beach Gardens, FL, April 15-16, 2007

Charlotte D’Hulst, Department of Medical Genetics, University of Antwerp
Yolanda De Diego, Laboratorio de Investigacion, Fundacion IMABIS, Malaga, Spain
Silvia DeRubeis, Department of Biology, University of Rome, Tor Vergata
Ali Entezem, NIH, National Institute of Diabetes, Digestive and Kidney Diseases
Daman Kumari, NIH, National Institute of Diabetes, Digestive and Kidney Diseases
Ola Larsson, Department of Medicine, Department of Medicine, University of Minnesota
Marco Moscarda, Istituto di Genetica Medica, Università Cattolica

Short Term Fellowship

Dr. Laetitia Davidovic, Postdoctoral Fellow, Centre de Recherch Hospital Saint Francois d’Assise, Quebec, Canada to study with Dr. Barbara Bardoni, Faculty de Medecine, Nice, France
“Identification and characterization of FMRP vs. FMRP-1304N interacting proteins in mRNPs complexes." 2006