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Research becomes a reality for Rett syndrome through new funding
Date:10/1/2010

Cincinnati, (OH) - The International Rett Syndrome Foundation (IRSF) announced today that it will award an additional $1.5M in research grants, bringing the 2010 total to $2.15 million for innovative basic and translational research that moves treatments for Rett syndrome a step closer to the clinic. IRSF is the world's largest private source of Rett syndrome research funding and with the addition of these awards the Foundation has cumulatively provided $23 million for Rett syndrome research.

Rett syndrome is an Autism Spectrum Disorder (ASD), characterized by distinguishing symptoms which begin to manifest in early childhood resulting in seriously debilitating neurological impairments in those affected. October 4th 2010 will mark 11 years since the landmark discovery, made in the laboratory of Dr. Huda Y. Zoghbi, that a single gene, MECP2, is responsible for the majority of cases of Rett syndrome. Since that time the pace of research has been rapid, resulting in recent work demonstrating genetic reversibility of the disease in mice. This year, regular research grant awards will be provided to the following exceptional scientific programs to further advance our understanding of the underlying causes of Rett syndrome:

  • "Pharmacological treatment of respiratory disorders in a mouse model of Rett syndrome", John M. Bissonnette, MD and Julian FR Paton, PhD, Oregon Health & Science University and the University of Bristol UK
  • "Epigenetic regulation of gene expression by MeCP2 in the mouse brain", Natalie G. Brub, PhD, University of Western Ontario
  • "Disruption of experience-dependent dendritic spine plasticity in MeCP2 mutant mice", Wen Biao Gan, PhD, New York University, School of Medicine
  • "Elucidation of Epigenetic Mechanisms in Rett Syndrome", Lisa Monteggia, PhD, University of Texas Southwestern Medical Center
  • "Using ChIA-PET to unravel high order chromatin regulatory functions of MeCP2", Yijun Ruan, PhD, The Genome Institute of Singapore, the National University of Singapore
  • "MHC Class I molecules and receptors as therapy for Rett Syndrome?", Carla J. Shatz, PhD, Stanford University
  • "MeCP2 in Cognitive Function in the Adult Nervous System", David J. Sweatt, PhD, University of Alabama at Birmingham
  • "The study of Rett syndrome with Mecp2 T158A knockin mice", Zhaolan Zhou, PhD, University of Pennsylvania

Dr. Huda Zoghbi whose lab discovered the gene responsible for Rett syndrome commented on the caliber of this year's awardees saying, "I am thrilled to learn that Dr. Carla Shatz will examine visual system plasticity in a mouse model of Rett syndrome. It is important to test this hypothesis given the role of MHC Class I proteins in activity-dependent plasticity during critical developmental periods. Beyond testing this hypothesis, bringing Carla into the Rett field is a huge boost to the neurobiological studies on this disorder." Dr. Shatz was formerly President of the prestigious Society for Neuroscience. This award is made in honor of Grace Reddington.

IRSF also awarded several post-doctoral fellowship training awards that will provide support for outstanding young investigators for the following important scientific projects:

  • Elena Amendola, PhD, European Molecular Biology Laboratory, "Model of CDKL5 Rett syndrome" Supported in partnership with the International Foundation for CDKL5 Research
  • Jing Han, PhD, Baylor College of Medicine, "Investigating the Role of the Neuroendocrine-Hypothalamic System in Rett Syndrome"
  • Keerthi Krishnan, PhD, Cold Spring Harbor Laboratory, "Role of MeCP2 in the maturation of neocortical GABA interneurons and critical period of plasticity"
  • Miriam Kron, PhD, Case Western Reserve University School of Medicine, "Synaptic mechanisms of apnea in Rett syndrome"

Dr. Katheryn Elibri-Frame President of the newly launched International Foundation for CDKL5 Research (IFCR) commented on the partnership award to Dr. Amendola saying, "Our shared goals and research endeavors will benefit children affected by both CDKL5 and Rett syndrome and we are proud to partner with IRSF in co-funding this project. Finding a cure is our top priority and this is a critical step forward."

New Translational Research Awards Announced

In addition to the regular research awards, IRSF recently launched "Research to Reality" an aggressive fundraising campaign spearheaded by IRSF's HeART and ANGEL grant awards which provide funding for drug discovery, development and testing. The first HeART grant awards will provide seed funding for the following early stage drug discovery programs:

  • "Serotonin and small molecule treatment of respiratory disorders in a mouse model of Rett syndrome" John M. Bissonnette, Oregon Health & Science University
  • "Novel screening methods for quantitative, homeostatic regulation of MeCP2", Rajiv Ratan, MD, PhD, Burke Medical Research Institute, Weill Medical College of Cornell University
  • "A high throughput small molecule screening platform for potential Rett syndrome MBD mutation therapeutics", Yi Eve Sun, MD, PhD, University of California, Los Angeles
  • "Evaluating carbonic anhydrase inhibitors as potential treatments for Rett syndrome", Liang Zhang, MD, PhD, University Health Network, Toronto Western Hospital

Earlier this year, IRSF announced funding of the first ANGEL award totaling $446,000 to support a program testing new treatments for breathing dysfunction in Rett syndrome to David Katz PhD, Case Western Reserve University.

Dr. Antony Horton IRSF Chief Scientific Officer commented, "Together these new basic and translational research awards are beginning to fulfill the promise of our 'Research to Reality' campaign which seeks to move discoveries out of the lab and translate them into new medicines for Rett syndrome." Dr. Horton added "In addition to this announcement IRSF expects to fund further meritorious research in December of this year".


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Contact: Stephen Bajardi
sbajardi@rettsyndrome.org
International Rett Syndrome Foundation
Source:Eurekalert

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