1994-2000 Grants Archives • Fragile X Research

GABA-A Receptor in Fragile X Syndrome

Katie Clapp 1994-2000 Grants • 2006-2010 Grants • Completed Research Grant • Disease Mechanisms • Kooy, Frank • University of Antwerp, Belgium October 19, 2014October 19, 2018GABA, GABA-A, sleep

FRAXA Research Foundation funded studies under the direction of Dr. Frank Kooy at the University of Antwerp in Belgium. $210,000 GrantsFrank Kooy, PhD Principal Investigator University of Antwerp, Belgium FRAXA Research Grants $45,000 in 2010 $100,000 in 2007-8 $65,000 in 1999-2000 by Frank Kooy, PhD Absence of a single protein, FMRP, in Fragile X patients leads to a cascade of molecular events in brain cells. To find out which other genes are involved the clinical symptoms, we have been looking for genes that are differentially expressed in Fragile X syndrome. One of the genes specifically underexpressed is part of the GABAA receptor. As GABA-A receptors are the main inhibitory receptors in the brain, involved in processes like anxiety, mood swings, sleep and cognition, processes also disturbed in Fragile X patients, we followed up on this finding. In subsequent studies, we demonstrated abnormalities in expression levels of multiple parts of the GABA-ARead more

Is There a Developmental Switch in the Effects of FMRP?

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • 2006-2010 Grants • 2011 Grants • 2012 Grants • Completed Research Grant • Disease Mechanisms • Huber, Kimberly • University of Texas at Southwestern March 12, 2013January 21, 2019glutamate, mGluR, mGluR5

With a $474,300 grant from FRAXA Research Foundation from 2000-2013, Dr. Kimberly Huber and her team at the University of Texas conducted several studies on the relationship between mGluR5 and Fragile X syndrome. Dr. Huber made the original discovery of the mGluR Theory of Fragile X when she was a postdoctoral fellow in the lab of Dr. Mark Bear, with her first FRAXA grant in 2000.

Understanding the Mechanism of mGluR5 in Fragile X Mouse Models

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Completed Research Grant • Disease Mechanisms • Erasmus University Rotterdam • Oostra, Ben • Treatment Targets February 26, 2009January 21, 2019AFQ056, fenobam, fruit fly, LTD (Long-term depression), mGluR, mGluR5, miRNA, mRNAs, Novartis, prepulse inhibition, TAT (Trans-Activator of Transcription)

With $184,000 in funding from FRAXA Research Foundation from 1996-2005, Dr. Ben Oostra and his team at Erasmus University have done multiple studies related to Fragile X syndrome. This lab created the first Fragile X mouse models and went on to perform many critical studies in Fragile X mouse models. Results published.

Basic Mechanisms of Disease and Potential Therapeutic Strategies

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • 2006-2010 Grants • Completed Research Grant • Disease Mechanisms • Emory University • Treatment Targets • Warren, Stephen February 2, 2009April 25, 2018glutamate, iPS, mGluR, mRNAs

With $245,000 in grants from FRAXA Research Foundation, Dr. Stephen Warren and his lab at Emory University studied all aspects of Fragile X syndrome, from the mechanisms of repeat expansion to high-throughput drug screens in the Drosophila model of Fragile X. The Warren lab made the original discovery of the Fragile X gene, FMR1, in collaboration with the Nelson and Oostra labs, and is recognized internationally as a leader in molecular genetics. Recent projects include establishment of induced pluripotent stem cell lines from Fragile X patients, and determination of other forms of mutation in the Fragile X gene, other than the most common trinucleotide repeat expansion.

Role of FMRP in the Regulation of Synaptic Plasticity

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • 2006-2010 Grants • Completed Research Grant • Greenough, William • University of Illinois at Urbana-Champaign • Weiler, Ivan Jeanne February 2, 2009April 25, 2018Adeno-associated virus, mRNAs

With more than $1,000,000 from FRAXA Research Foundation over 13 years, Drs. William Greenough and Ivan-Jeanne Weiler at the University of Illinois uncovered the role of FMRP at synapses, leading to much of the subsequent research on Fragile X syndrome.

Therapeutic Interventions in FMR1 Knockout and Transgenic Mice: Role of the FMR1 Gene

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • 2006-2010 Grants • Albeck, David • Baylor College of Medicine • Brennan, Francis • Completed Research Grant • Disease Mechanisms • Paylor, Richard • Treatment Targets February 13, 2006April 25, 2018AMPAkines, BDNF, startle

With a $229,000 grant from FRAXA Research Foundation in 2006, Drs. Richard Paylor, David Albeck, and Francis Brennan at the Baylor College of Medicine found that, in mice as in humans, the level of Fragile X protein in brain cells plays a prominent role in determining levels of activity and anxiety.

Transgenic Mouse Models of Fragile X Syndrome

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • 2006-2010 Grants • Bauchwitz, Robert • Columbia University • Completed Research Grant • Disease Mechanisms February 13, 2006August 13, 2018GSK3, mGluR5

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.

Reactivating the FMR1 Gene

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Completed Research Grant • Erasmus University Rotterdam • Genetic Rescue • Hoogeveen, Andre February 27, 2004April 25, 2018demethylation

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.

Role of Experience in Regulating Levels of the Fragile X Protein

FRAXA Research Foundation 1994-2000 Grants • Disease Mechanisms • Mack, Kenneth • Mayo Clinic • Research Grant with Results • Todd, Peter January 1, 2004April 30, 2018autism, glutamate, mGluR, PSD-95

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

Understanding the Function of Fragile X Protein in Drosophila

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Completed Research Grant • Disease Mechanisms • Siomi, Haruhiko • Siomi, Mikko • Tokushima University, Japan February 26, 2003August 2, 2018mRNAs, RNAi

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.

Isolating and Characterizing the mRNAs That Bind FMRP

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grant • Denman, Robert • Disease Mechanisms • New York State Institute for Basic Research • Treatment Targets January 14, 2003January 14, 2019

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 how FMRP possibly functions.

Prospects For Gene Therapy in the Fragile X

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Completed Research Grant • Genetic Rescue • New York State Institute for Basic Research • Rattazzi, Mario February 27, 2002August 13, 2018Adeno-associated virus, cancer, TAT (Trans-Activator of Transcription)

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.

Prepulse inhibition in Fragile X

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grant • Disease Mechanisms • Silva, Alcino • University of California at Los Angeles June 27, 2001January 16, 2019autism, hypersensitivity, prepulse inhibition, prepulse inhibition, startle

With a $27,000 grant from FRAXA Research Foundation in 1999, Dr. Alcino Silva and his team examined prepulse inhibition in Fragile X mice and children with Fragile X.

Identification of Specific RNA Targets of FMRP

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Completed Research Grant • Darnell, Jennifer • Darnell, Robert • Disease Mechanisms • Rockefeller University • Treatment Targets February 27, 2001August 2, 2018autism, mRNAs

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.

Transgenic Mouse Model Studies of Fragile X Syndrome

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Columbia University • Completed Research Grant • Disease Mechanisms • Kandel, Eric February 27, 2001April 28, 2018demethylation

With a $410,000 grant from FRAXA Research Foundation from 1999-2001, Dr. Eric Kandel and his team at Columbia University researched development of Fragile X mice to further aid future studies of Fragile X research.

Molecular Interactions Between FMRP and Protein Translation Apparatus

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Bagni, Claudia • Completed Research Grant • Disease Mechanisms • VIB, Leuven, Belgium February 27, 2001April 25, 2018autism

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.

Role of FMRP in Development and Maturation of Spine Synapses

FRAXA Research Foundation 1994-2000 Grants • Braun, Katarina • Completed Research Grant • Disease Mechanisms • Segal, Menahem • Weizmann Institute, Germany February 27, 2000January 9, 2019

With a $160,000 grant from FRAXA Research Foundation from 1999-2000, Drs. Menahem Segal at the Weizmann Institute and Katarina Braun at the Leibnitz Institute for Learning researched the development of Fragile X syndrom in a controlled, in vitro test system. Results published.

Neural Network Model of Working Memory in Fragile X Syndrome

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grant • Disease Mechanisms • Johnson-Glenberg, Mina • Treatment Targets • University of Wisconsin February 27, 2000April 25, 2018neural network

With a $67,000 grant from FRAXA Research Foundation in 2000, Dr. Mina Johnson-Glenberg at the University of Wisconsin researched how long-term and working memory was affected in individuals with Fragile X syndrome.

Melatonin Clinical Trial in Fragile X

FRAXA Research Foundation 1994-2000 Grants • Clinical • Clinical Trials • Completed Research Grant • Disease Mechanisms • Hagerman, Randi • Treatment Targets • University of California at Davis February 27, 2000August 13, 2018autism, melatonin, serotonin, sleep, sound

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.

FMR1 Gene Regulation

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grant • Disease Mechanisms • Genetic Rescue • Hagerman, Paul • University of California at Davis February 27, 2000April 25, 2018

With a $30,000 grant from FRAXA Research Foundation in 1999, Dr. Paul Hagerman and his team at the University of California researched how to re-activate the FMR1 gene and how to measure its levels.

Longitudinal Study of Children with Fragile X

FRAXA Research Foundation 1994-2000 Grants • Bailey, Don • Clinical • Completed Research Grant • University of North Carolina February 27, 2000January 14, 2019autism

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.

Transport of the Fragile X Protein

FRAXA Research Foundation 1994-2000 Grants • Case Western Reserve University • Completed Research Grant • Disease Mechanisms • Tartakoff, Alan February 27, 2000April 25, 2018mRNAs

With a $123,000 grant from FRAXA Research Foundation from 1998-2000, Dr. Alan Tartakoff at the Case Western Reserve University studied how proteins communicate with the brain, how and when FMRP travels in the brain, and how to introduce more antibodies to Fragile X research.

Characterization of Two Novel FMRP Interacting Proteins

FRAXA Research Foundation 1994-2000 Grants • Bardoni, Barbara • Completed Research Grant • Disease Mechanisms • Mandel, Jean-Louis • University of Strasbourg, France February 27, 2000April 25, 2018CYFIP

With a $30,000 grant from FRAXA Research Foundation in 2000, Dr. Jean-Louis Mandel and his team at the University of Strasbourg studied the function of two proteins to better understand the affects of the absence of FMRP.

Synaptic Plasticity and Olfactory Learning in Fragile X

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grant • Disease Mechanisms • Larson, John • University of Illinois Chicago February 26, 2000May 16, 2018glutamate, hypersensitivity, mGluR

With a $40,000 grant from FRAXA Research Foundation in 2000, Dr. John Larson and his team at the University of Illinois Chicago used olfaction (sense of smell) in mice as a neuro-behavioral model system for human memory. They characterized olfactory sensitivity, learning, and memory in FMR1 knockout mice as compared to wild-type (normal control) mice.

Reactivation of the FMR1 Gene in Fragile X Patients Cells in Culture

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grant • Disease Mechanisms • Neri, Giovanni • Treatment Targets • Universita Cattolica del S Cuore January 14, 2000January 14, 2019

With a $62,000 grant from FRAXA Research Foundation from 1999-2000, Dr. Giovanni Neri and his team at Universita Cattolica del S. Cuore explored possible strategies to turn the Fragile X gene back on.

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