Research Grants to Dr. Kimberly Huber 2000-2010

Research Grants to Dr. Kimberly Huber 2000-2010

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.

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Understanding the Mechanism of mGluR5 in Fragile X Mouse Models

Understanding the Mechanism of mGluR5 in Fragile X Mouse Models

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.

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Basic Mechanisms of Disease and Potential Therapeutic Strategies

Basic Mechanisms of Disease and Potential Therapeutic Strategies

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.

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Role of FMRP in the Regulation of Synaptic Plasticity

Role of FMRP in the Regulation of Synaptic Plasticity

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.

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

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

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.

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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.

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Role of Experience in Regulating Levels of the Fragile X Protein

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.

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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.

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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.

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Identification of Specific RNA Targets of FMRP

Identification of Specific RNA Targets of FMRP

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.

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Molecular Interactions Between FMRP and Protein Translation Apparatus

Molecular Interactions Between FMRP and Protein Translation Apparatus

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.

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Role of FMRP in Development and Maturation of Spine Synapses

Role of FMRP in Development and Maturation of Spine Synapses

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 syndrome in a controlled, in vitro test system. Results published.

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Neural Network Model of Working Memory in Fragile X Syndrome

Neural Network Model of Working Memory in Fragile X Syndrome

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.

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Melatonin Clinical Trial in Fragile X

Melatonin Clinical Trial in Fragile X

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.

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Longitudinal Study of Children with Fragile X

Longitudinal Study of Children with Fragile X

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.

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Transport of the Fragile X Protein

Transport of the Fragile X Protein

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.

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Characterization of Two Novel FMRP Interacting Proteins

Characterization of Two Novel FMRP Interacting Proteins

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.

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Synaptic Plasticity and Olfactory Learning in Fragile X

Synaptic Plasticity and Olfactory Learning in Fragile X

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.

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