Dr Roberto Testi and his lab team recently completed a project on ataxia
About Ataxia
Research funded by Ataxia UK
Ataxia UK funds a wide variety of research projects. Below is a list of all projects currently being funded, and of projects that have ended in the last 5 years. Additionally, Ataxia UK contributes towards travel and conference expenses.
Friedreich's ataxia research
Current projects
- An investigation to determine the efficacy and safety of lentivirus mediated FXN gene delivery for the correction of Friedreich ataxia Principal Researchers: Dr Mark Pook and Dr Michael Themis, Brunel University, Uxbridge, UK
- Visual dissection of GAA-mediated mechanisms of FRDA repression and identification of novel candidate factors involved in frataxin function Principal Researchers: Dr Michele Lufino and Dr Richard Wade-Martins, Department of Physiology, Anatomy and Genetics, University of Oxford
- Pharmacodynamic studies of a histone deacetylase inhibitor in Friedreich’s ataxia Principal Researcher: Professor Richard Festenstein, Department of Medicine, Imperial College London
- Identifying additional sensitive targets in Friedreich ataxia Principal Researcher: Dr Pierre Rustin, Hopital Robert Debre, Inserm U676, Paris, France
- Identification of the E3 ligase that ubiquitinates frataxin Principal Researcher: Dr Roberto Testi, Department of Experimental Medicine, University of Rome, ‘Tor Vergata,’ Italy
- Developing stem cell therapies for Friedreich’s ataxia Principal researchers: Dr Wilkins and Prof Scolding, Institute of Clinical Neurosciences, University of Bristol, UK
Projects that ended in last 3 years
- Development of an improved GAA repeat expansion mutation-based mouse model of Friedreich ataxia for therapeutic testing Principal researcher: Dr Mark Pook, Brunel University, Uxbridge, UK. This project was joint-funded by Ataxia UK, GOFAR and FARA (US).
- Development of second generation histone deacetylase inhibitors as therapeutics for Friedreich’s ataxia Principal researcher: Dr Elisabetta Soragni, the Scripps Research Institute, California. This project was joint-funded by Ataxia UK and GOFAR
- Restoration of Frataxin gene expression in Friedreich’s ataxia- identification and characterisation of novel epigenetic therapies Principal researcher: Professor Richard Festenstein, Imperial College London
- Neuron-validated Approaches for Developing Friedreich’s Ataxia Therapeutics Principal Researchers: Dr Richard Wade-Martins, Dr Filip Lim*, Department of Physiology, Anatomy and Genetics, University of Oxford
- Development of histone deacetylase inhibitors as treatment for Friedreich’s ataxia Principal researchers: Elisabetta Soragni & Joel Gottesfeld, the Scripps Research Institute, California. This project was joint-funded by Ataxia UK, GOFAR and FASI
- Time dependence and dose response of HDAC inhibitors of the pimelic diamide family on the chromatin structure of the frataxin gene Principal researchers: Elisabetta Soragni & Joel Gottesfeld, the Scripps Research Institute, California. This project was joint-funded by Ataxia UK and GOFAR
- Understanding the role of frataxin in cell survival Principal researcher: Dr Roberto Testi, University of Rome Tor Vergata, Italy. This project was joint-funded by Ataxia UK and FARA (US)
- Epigenetic modifiers as potential disease modifying factors in Friedreich's ataxia Principal researcher: Dr R Festenstein, Imperial College (London)
- Overcoming transcription defect in Friedreich's ataxia with small molecules Principle investigator: Professor Massimo Pandolfo, Universite Libre de Brussels, Belgium
- Cannabinoid therapeutic testing of a Friedreich ataxia mouse model Principle investigator: dr Mark Pook, Brunel University
Cerebellar ataxia research
Current projects
- Molecular function of human senataxin protein in ataxia oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis type 4 (ALS4) Principal Researchers: Dr Natalia Gromak and Professor Nicholas Proudfoot, University of Oxford
- Development of an assay for inhibitors of the deleterious interaction between wildtype and episodic ataxia-2 mutant Cav2.1 channels Principal Researcher: Professor Annette Dolphin, University College London
- Antisense oligonucleotide mediated skipping of the CAG containing exon as a therapeutic approach for ataxias caused by a CAG repeat expansion Principal Researcher: Dr W.M.C van Roon-Mom, Leiden University Medical Center, the Netherlands
- Translation control of mRNAs with CAG repeat expansions and its implication for pathogenesis and therapy of SCA2 and other spinocerebellar ataxias Principal researchers: Professor Susann Schweiger, Division of Pathology and Neuroscience, University of Dundee
- Understanding the role of interruptions in polyQ diseases Researchers: Paola Giunti, Annalisa Pastore, University College London and National Institute for Medical Research, London
- DNA Single-Strand Break Repair and Ataxia Oculomotor Apraxia Principal researchers: Dr Sherif El-Khamisy, University of Sussex, UK
- Therapeutic potential of modulators of cannabinoid receptors in cerebellar ataxias Principal researchers: Gary Stephens, Benjamin Whalley, School of Pharmacy, University of Reading
- Coenzyme Q10 a potential therapeutic target for ataxia: Evaluation of therapeutic strategies Principal researchers: Dr. Iain P. Hargreaves, Dr Simon R.J. Heales, Dr. Shamima Rahman, Department of Molecular Neurosciences, Institute of Neurology, University College of London
- Endogenous Cerebellar Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias Principal researcher: Professor Silvia Marino, Barts and the London School of Medicine and Dentistry
- Identification of transport processes which influence the intracellular localization of ataxin-3 Principal researcher: Dr Thorsten Schmidt, University of Tuebingen, Germany
- Neural regeneration in the cerebellum: Development of cell replacement strategies for the management of spinocerebellar ataxias Researchers: Dr Gian Giacomo Consalez, San Raffaele Scientific Institute, Milan, Italy; Professor Ferdinando Rossi, University of Turin, Italy Physiotherapy research
Projects that ended in last 3 years
- Development of high throughput genetic testing for cerebellar ataxias Principal Researchers: Dr Andrea Nemeth, Dr Kevin Talbot, Dr Jenny Taylor, Dr Anneke Seller, John Radcliffe Hospital, Oxford
- Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias Principal researchers: Professor David Lee, Dr Benjaman Schögler Perception Movement Action Research Centre, the University of Edinburgh
- RNAi therapy for Spinocerebellar Ataxia Principal researcher: Dr Matthew JA Wood, University of Oxford
- The Genetic and Functional Characterisation of Spinocerebellar Ataxia type 11 (SCA11) Principal researchers: Dr Henry Houlden, Dr Paola Giunti and Professor Nicholas Wood, Institute of Neurology London
- Evaluation of RNA trans-splicing therapy for spinocerebellar ataxia, type 1 – A pilot study Principal researcher: Jean-Marc GALLO, Institute of Psychiatry, King’s College London
- DNA replication origin and triplet repeat instability in spinocerebellar ataxia type VII (SCA7) Principal researchers: Dr Mauro Giacca and Dr Alessandro Carrer, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
- Identification of a novel gene causing autosomal dominant ataxia and nystagmus Principal Researcher: Nicola Ragge, University of Oxford
- Regulation of voltage-gate calcium channels in ataxia Principal researcher: Dr Jamie Weiss, The University of Sheffield
- Investigations into the cellular function of ataxin-2 by the use of ssRNA aptamers Principal researchers: Dr. Sylvia Krobitsch and Dr. Zoltán Konthur, Max Planck Institute for Molecular Genetics, Germany
- Cognitive effects of cerebellar disorder Principal researchers: Professor Tim Griffiths, Professor Patrick Chinnery and Dr Tom Kelly, University of Newcastle
- Gluten ataxia - IgA deposits against TG2 in duodenal biopsies of patients with sporadic ataxia Principle investigator: Dr Marios Hadjivassiliou, royal Hallamhire Hospital, Sheffield
- Genetic and functional analysis in the gene causing SCA13 in UK patients with ataxia Principle investigators: Professor Kay Davies, Dr Kevn Talbot, Dr Esther Becker, University of Oxford
- Degenerative ataxias and the potential for neuroprotection Principle investigator: Dr Alistair Wilkins and Professor Neil Scolding, University of Bristol
Research into physiotherapy and speech and language therapy
Projects that ended in last 3 years
- Investigating balance therapies in cerebellar ataxia: Evaluating therapeutic outcome measures and feasibility testing of a novel intervention Principal researchers: Professor Brian Day and Dr Paola Giunti, Institute of Neurology, London and Professor Jon Marsden, Plymouth University
- An investigation into the relationship between rhythm and intonation in ataxic dysarthria Principal researchers: Dr Anja Lowit and Dr Ineke Mennen, University of Strathclyde
- An investigation into the effect of lycra pressure garments in the managemet of movement control problems caused by cerebellar ataxia Principle invesitgators: Martin Watson, Kathryn Mares, Dr Margaret McArthur, Dr Paul Worth, Stephanie Brown, University of East Anglia
- Contemporary physiotherapy practice for people with ataxia: the perspectives of clients and physiotherapists Principle investigators: Elisabeth Cassidy, Frances Reynolds, Sandra Naylor, Anbreen Khan, Brunel University
Travel and conference awards
- 'III International Symposium of Hereditary Ataxia' Guardalavaca Beach, Holguín, Cuba; 1-3 October 2008
