ATAXIA RESEARCH STUDIES AWARDED
FUNDING FOR FY 2016
The following are titles and lay summaries of important ataxia research.
Pioneer SCA Translational Grant Awards
Ranum, Laura, Ph.D.
University of Florida, Gainesville, FL
ASO targeting of bidirectional transcripts and RAN translation in SCA8
Raskind, Wendy H., M.D., Ph.D.
University of Washington, Seattle, WA
Oligonucleotide-based Therapy in BAC-Mouse Models of SCA14
Post-Doc Fellowship Awards
Cohen, Rachael L., DVM
Johns Hopkins University School of Medicine, Baltimore, MD
Molecular Pathogenesis of Spinocerebellar Ataxia Type 12
Santana, Magda Matos, PharmD, Ph.D.
Center for Neuroscience and Cell Biology, Coimbra, Portugal
Advanced Induced Pluripotent Stem Cell-based Models of Machado-Joseph disease
Singh, Pankaj Kumar, Ph.D.
Institut de génétique et de biologie moléculaire et cellulaire (IGBMC), Illkirch-Strasbourg, France
Unravelling pathomechanisms of muscle dysfunction in an autosomal recessive cerebellar ataxia 2 (ARCA2) mice model
Yang, Su, Ph.D.
Emory University, Atlanta, GA
Developing the MANF-based therapeutic approach for Spinocerebellar Ataxia 17
Perlman, Susan, M.D.
University of California Los Angeles, CA
Web-based National Ataxia Database
Research Seed Money Awards
Aquilano, Katia, Ph.D.
University of Rome Tor Vergata, Rome, Italy
Study of the role of lipid dysmetabolism in the pathogenesis of Friedreich’s ataxia
Downey, Michael, Ph.D.
University of Ottawa, Ontario, Canada
A new look at Ataxia7 as a regulator of substrate selection by the KAT2a acetyltransferase
Fanto, Manolis, Ph.D.
King’s College London, Great Britain
Rbfox proteins as critical determinants for cell toxicity in DRPLA and other Spinocerebellar Ataxias
Fogel, Brent L., M.D., Ph.D.
University of California, Los Angeles, CA
Esther B. E. Becker, Ph.D.
University of Oxford, United Kingdom
Development of a Cellular Model for the Functional Characterization of SCA41 Mutations
Mendonça, Liliana Simões, PharmD Ph.D.
University of Coimbra, Portugal
The transplantation of induced pluripotent stem cells (IPSC)-derived neural stem cells (NSC) in Machado Joseph disease (MJD)
Rosenberg, Paul, M.D.
Duke University Medical Center, Durham, NC
Contribution of store-operated calcium entry to calcium dysregulation in spinocerebellar ataxias
Young Investigator Award
Pinto, Ricardo Mouro, Ph.D.
Massachusetts General Hospital Harvard Medical School, Boston, MA
Identification of genetic modifiers of somatic GAA instability in Friedreich Ataxia by in vivo CRISPR-Cas9 genome editing
Richard, Patricia, Ph.D.
Columbia University, New York, NY
Role of the SETX/CHD3 interaction in the DNA damage response and its connection to AOA2
Tumbale, Percy, Ph.D.
National Institute of Environmental Health Sciences
National Institutes of Health
Research Triangle Park, NC
Expanded Roles for Aprataxin Mutations in Ataxia Oculomotor Apraxia 1 (AOA1)
Young Investigator for SCA Research Awards
Goetz, Sarah, Ph.D.
Duke University, Durham, NC
Exploring the Role of Primary Cilia in SCA11 Pathogenesis
Grasselli, Giorgio, Ph.D.
The University of Chicago, Chicago, IL
Role of SK channels in cerebellar Purkinje cells in the Pathophysiology of spinocerebellar ataxia
Scaglione, Kenneth Matthew, Ph.D.
Medical College of Wisconsin, Milwaukee, WI
Investigation into polyglutamine in Dictyostelium
Tsou, Wei-Ling, Ph.D.
Wayne State University School of Medicine
Mechanisms of Neuroprotection by DnaJ-1 in Spinocerebellar Ataxia Type 6