2015 FARA Awarded Grants

Principal Investigator/Organization Grant Description Type of Research Co-funding

Drug Discovery 2014 Keith Michael Andrus Cardiac Research Award: Veronique Monnier - Université Identification of therapeutic compounds on a cardiac Drosophila model of Friedreich’s Translational FARA Ireland Paris Diderot ataxia Andrew Dancis - University of A therapeutic strategy for Friedreich's ataxia: Frataxin bypass by enhancing the Translational Pennsylvania mitochondrial cysteine desulfurase activity Edward L. Grabczyk - Louisiana Small molecule induced exon skipping of MLH3 to slow repeat expansion in an FRDA Translational State University mousel model High throughput screen of Pfizer small molecule chemical library in FRDA patient- Pfizer Basic/Translational derived cells to look for regulators of frataxin protein Robert Wilson - University of (1) Center of Excellence: Drug Discovery Basic/Translational Hamilton & Finneran Family Pennsylvania (2) Drug testing and development for FA Omar Khdour - Arizona State Approaches to correct mitochondrial abnormalities and synaptic pathology in frataxin- Basic/Translational University deficient sensory neurons Gene & Stem Cell Therapy Helene Puccio - INSERM, IGBMC, Development of neuronal gene therapy for the treatment of FRDA Translational FARA Ireland France Ricardo Pinto Mouro - Harvard FARA Ireland & The National CRISPR/Cas9-based Therapeutics for Friedreich's ataxia Basic/Translational University Ataxia Foundation Joel Gottesfeld - The Scripps Stem Cell Therapeutics for Friedreich's ataxia (Postdoctoral Fellowship: Baohu Ji) Translational Research Institute Lead Candidates Miriam Cnop - Université Incretin Analogs as new theraputics for FA Clinical Libre de Bruxelles Retrotope Patient travel costs for RT001 clinical trial Clinical Paola Giunti - University College Investigation of mitochondrial function and novel therapies in Friedreich’s ataxia mouse Translational GoFAR London models 2015-2016 Kyle Byrant Translational Research Award: Catabasis Evaluation of CAT-4001 in Frataxin-deficient mouse models and DRG neurons to enable Clinical its therapeutic development to treat Friedreich’s Ataxia Mechanisms of Pathways of Disease Alain Martelli - CERBM-GIE/IGBMC, Primary dorsal root ganglia sensory neurons with complete or partial loss of frataxin as Basic FARA Ireland France models to investigate the neuropathophysiology of Friedreich ataxia Massimo Pandolfo - Université Investigation of the role of mTOR in Friedreich’s ataxia and identification of new Basic FARA Ireland Libre de Bruxelles possible pathways for therapeutic intervention. Zhen Yan - University of Virginia Exercise impacts on mitochondria and muscle function in Friedreich's ataxia Basic/Translational School of Medicine Hugo Bellen - Baylor College of The role of iron accumulation and increased lipid synthesis in the pathogenesis of Basic Medicine Friedreich’s ataxia Jordi Magrané - Weill Cornell Analysis of mitochondrial dynamics in cultured neurons and in in vivo mouse models of Basic/Translational Medical College Friedreich's Ataxia Cell & Animal Models Mirella Dottori - University of Transplantation studies of sensory neurons derived from Friedreich Ataxia induced Basic/Translational FARA Australia Melbourne, Australia pluripotent stem cells into the dorsal root ganglia Cat Lutz - The Jackson Laboratories Standardization and Characterization of Mouse models for the Study of FA Basic/Translational Natural Hx & Biorespository David Lynch - Children's Hospital of Philadelphia; Susan Perlman - University of California Los Angeles; George Wilmot - Emory University; Christopher Gomez - University of Chicago; Kathy Mathews - Collaborative Clinical Research Network in FA - Clinical Site Activity for Natural History Clincal University of Iowa; Sub Subramony - and Biorepository University of Florida; Chad Hoyle - Ohio State University; Grace Yoon - Sick Kids; Martin Delatycki - Murdoch Children's Research Institute Theresa Zesiewicz - University of Collaborative Clinical Research Network in FA - University of South Florida site activity, Clincal Southy Florida Symposium, Biomarker and Clinical Research David Lynch - Children’s Hospital of Center of Excellence - Translational & Clinical Research Translational/Clinical Hamilton & Finneran Family Philadelphia Outcome Measures & Biomarkers Pierre Gilles Henry & Christophe Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord Clincal Ataxia UK & GoFAR Lenglet - University of Minnesota in Friedreich's Ataxia Ian Blair - University of Center of Excellence - Metabolic Biomarkers Translational Hamilton & Finneran Family Pennsylvania Elizabetta Sorangi - The Scripps Gene Expression Studies in FA Translational Research Institute

Marek Napierala & Jill Butler - Defining the molecular signature of FA to identify novel biomarkers Translational/Clinical FARA Ireland University of Alabama, Birmingham

David Lynch - Children's Hospital of Philadelphia; Massimo Pandolfo - Biomarker Consortium: Neurophysiologic Biomarkers in FA Clinical Voyager Therapeutics Erasme University Hospital David Herrmann - University of Biomarker Consortium: In vivo confocal imaging of Meissner's Corpuscles as a Clinical Voyager Therapeutics Rochester biomarker in FA Martin Delatycki - Murdoch Children's Research Institute, Melbourne, Australia; Theresa Biomarker Consortium: Longitudinal gait and balance measurement Clinical Voyager Therapeutics & Agilis Zesiewicz - University of South Florida Cindy Casaceli - University of Biomarker Consortium: Database Clinical Rochester Cardiac Research 2015 Keith Michael Andrus Cardiac Research Award: Alice Pebay - University of Screening of phenotypic abnormalities in Friedreich's ataxia-induced pluripotent stem Translational FARA Ireland Melbourne, Australia cell-derived CMs Kim Lin - Children’s Hospital of Center of Excellence - cardiac research and education Clincal Hamilton & Finneran Family Philadelphia Martin Delatycki - Murdoch Children's Research Institute, Interstitial fibrosis, the renin-angiotensin-aldosterone system and biomarkers in the Clincal FARA Australia Melbourne Australia; Kim Lin - cardiac disease of Friedreich ataxia Children's Hospital of Philadelphia Other All India Institute of Medical FA Scientific Conference Scientific Conference Sciences