News Release

IRSF awards over $1.5 million for basic and translational research for Rett syndrome

New awards bring IRSF's cumulative research spend to over $26 million

Grant and Award Announcement

Cincinnati, (OH) - The International Rett Syndrome Foundation (IRSF) announced today that it is awarding over $1.5M to support 18 new grants designed to study a variety of diverse topics from basic science and disease pathology to developing treatments and outcome measures for Rett syndrome. IRSF is the world's largest private source of funding for biomedical and clinical Rett syndrome research with the cumulative total of research spending of over $26M since 1998. It is the mission of IRSF to invest in these high quality, peer-reviewed basic and translational research grants to advance research towards new treatments for Rett syndrome.

IRSF's Grants & Research department encompasses two research programs: Basic Research and Translational Research. Under the Basic Research Program, the grant mechanisms cover Regular Research Grants and Postdoctoral Fellowships, which are designed to assist independent investigators and post-doctoral researchers establish careers in fields relevant to Rett syndrome research and to obtain future funding from other agencies. The Translational Research Program funds early and late stage translational research to treat and reverse Rett syndrome (RTT) using two grant mechanisms, Help Accelerate Rett Therapeutics (HeART) and the Advanced Neurotherapeutic Grant of Excellence (ANGEL), respectively.

The awarded basic research projects explore a range of topics from basic biology in gene regulation to understanding pathways involved in neuronal cell communication. Together, these types of studies will allow for identification of novel therapeutic targets in Rett syndrome. The second round of translational grants are focused on repurposing FDA-approved drugs for Rett syndrome, development and testing of potential therapeutic compounds, and development of outcome measures in humans that will be used in future clinical studies. Collectively, this year's awards will contribute to the different pathways into the drug development pipeline for Rett syndrome and move forward IRSF's scientific agenda "Research to a Reality".

Stephen Bajardi, the executive director of IRSF, commented, "IRSF is gratified to see the growing interest and focus on Rett syndrome research, as well as the global nature of these projects with five out of the eighteen grants coming from countries other than the United States."

New Translational Research Awards

  • Yves-Alain Barde, PhD, Biozentrum-University of Basel Increasing BDNF levels with the sphingosine-1 phosphate receptor agonist fingolimod (FTY720)
  • Joseph Bressler, PhD, Hugo W. Moser Research Institute at Kennedy Krieger The Use of NF kappa B inhibitors In Treating Rett Syndrome
  • Aleksandra Djukic, MD, PhD, Tri-State Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine Face perception in Rett Syndrome: Recognition of Emotional Expression
  • James Eubanks, PhD, Toronto Western Research Institute Evaluating Whether Huperzine-A Improves MeCP2-Deficient Mouse Behavior
  • Jeffrey Neul, MD, PhD, The Jan and Dan Duncan Neurological Institute at Texas Children's Hospital and Baylor College of Medicine Pharmacological treatment of cardiac rhythm abnormalities in Rett Syndrome

New Basic Research Awards-Regular Research Grants

  • Maurizio Giustetto, PhD, National Institute of Neuroscience-Italy Identification Of Novel Neuronal Substrates Of Rett Syndrome: A Morphofunctional Analysis Of GABAergic Interneurons In Mouse Models
  • Chun Jiang, PhD, Georgia State University Defects in presynaptic norepinephrine-ergic modulation of cranial motoneurons in Mecp2-null mice
  • Peng Jin, PhD, Emory University 5-Hydroxymethylcytosine-mediated Epigenetic Modulation in Rett Syndrome
  • Michael Müller, PhD, University Medical Centre Göttingen Mitochondrial dysfunction and cytosolic redox balance in Rett syndrome

  • Colleen Niswender, PhD, Vanderbilt University Metabotropic glutamate receptor 7: a potential novel candidate for the treatment of Rett Syndrome
  • Paul Patterson, PhD, California Institute of Technology Characterization of IKKalpha-MeCP2 interactions
  • Gina Turrigiano, PhD, Brandeis University Disrupted Homeostatic Synaptic Plasticity as a Potential Cause of Cortical Dysfunction in Rett Syndrome

New Basic Research Awards-Postdoctoral Fellowships

  • Darren Goffin, PhD, Mentor: Zhaolan Zhao, PhD, University of Pennsylvania Investigating Neurophysiological Biomarkers for Rett Syndrome
  • Anna Kalashnikova, PhD, Mentor: Jeffrey Hansen, PhD, Colorado State University Crystallization of the MeCP2 C-terminal domain in complex with DNA and full length MeCP2 in complex with nucleosomal arrays
  • Jennifer Larimore, PhD, Mentor: Victor Faundez, MD, PhD, Emory University Dysbindin-BLOC-1-dependent mechanisms regulation by MeCP2
  • Wei Li, PhD, Mentor: Lucas Pozzo-Miller, PhD, The University of Alabama at Birmingham A new approach for treating Rett syndrome: restoration of interneuron function by BDNF
  • Ana Abdala Sheikh, PhD, Mentors: John M Bissonnette, MD and Julian FR Paton, PhD, University of Bristol Understanding and rescuing respiratory arrhythmias in a mouse model of Rett syndrome
  • Han Xu, PhD, Mentor: Bernardo Rudy, MD, PhD, New York University Contribution of cortical GABAergic interneuron populations to Rett syndrome pathology

About Rett Syndrome

Rett syndrome (RTT), a developmental neurological disorder, occurs almost exclusively in females. RTT results in severe movement and communication problems following apparently normal development for the first six to 18 months of life. Characteristic features of the disease include loss of speech and purposeful hand use, repetitive hand movements, abnormal walking, abnormal breathing, slowing in the rate of head growth and increased risk of seizures. Current treatment for girls with RTT includes physical and occupational therapy, speech therapy, and medication for seizures. There is no known cure for RTT. In 2007, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. RTT is considered a "Rosetta Stone" that is helping scientists understand multiple developmental neurological disorders, and shares genetic links with other conditions such as autism and schizophrenia.

About the International Rett Syndrome Foundation.

IRSF is the world's leading private funder of basic, translational and clinical Rett syndrome research, funding over $26M in high-quality, peer-reviewed research grants and programs to date. Annually, IRSF hosts the world's largest gathering of global Rett researchers and clinicians to establish research direction and priorities while exchanging ideas and the most recent information. IRSF is the most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and emotional family support, and stimulating research aimed at accelerating treatments and a cure for Rett syndrome and related disorders. IRSF has earned Charity Navigator's most prestigious 4 star rating. To learn more about IRSF and Rett syndrome, visit or call IRSF at 1-800-818-RETT (7388).

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