Research Funded By Ataxia UK

Research Funded by Ataxia UK

Ataxia UK funds a wide variety of research projects. Below is a list of projects currently being funded, and of projects that have ended in the last few years.

Friedreich's Ataxia

Awarded 2023

• Novel biomarkers of oxidative stress in Friedreich’s ataxia - £4,800 - Small project grant - Prof Peter Clayton, Prof Philippa Mills, Dr Youssef Khalil and Prof Paola Giunti, UCL Great Ormond Street Institute of Child Health, and the Ataxia Centre, UCL Institute of Neurology (UK)

Awarded 2022

• A feasibility study of LSVT Artic to improve speech performance in people with progressive ataxia - £2,862 - Small project grant - Prof Anja Lowit, Strathclyde University & NHS Greater Glasgow and Clyde (UK)

Awarded 2021

• Motor and cognitive outcomes of non-invasive transcranial alternate current stimulation by entrainment of cerebellar oscillations - £5,000 - Small project grant - Dr Barbara Borroni, Department of Clinical and Experimental Sciences, University of Brescia, Brescia (Italy)
• Analysis of the mitochondrial dysfunction in FXN deficient neurons to generate a drug screening test - £4,750 - Small project grant - Dr Saúl Herranz Martín, Fundación Severo Ochoa, Madrid (Spain)
• Development of a selective high throughput screening assay for the discovery of compounds replacing frataxin in FA - £30,000 - Research project grant - Dr Benoit D’Autréaux, CNRS-CEA-Université Paris-Saclay. 

Awarded 2020

• Etravirine as a potential therapeutic for Friedreich's ataxia - £20,000 - Research project grant - Dr Alessandra Rufini, Fratagene Therapeutics, Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome (Italy)
• Development of a selective high throughput screening assay for the discovery of compounds replacing frataxin in FA - £26,000 - Research project grant - Dr Benoit D'Autréaux, Institute for Integrative Biology of the Cell, CNRS-CEA-Université Paris-Saclay Cell Biology department, Paris (France)
• Investigating the role of bioactive sphingolipids in Friedreich's ataxia - £26,471 - Research project grant - Dr Sara Anjomani Virmouni, Division of Biosciences, Brunel University, London (UK)
• A joint model of online SLT intervention and peer support to enhance communication effectiveness and participation in people with progressive ataxia - £5,977 - Small project grant - Prof Anja Lowit & Mrs Catherine McGee, Strathclyde University & NHS Greater Glasgow and Clyde (UK)

Awarded 2019

• Non-invasive transcranial cerebella stimulation: double blind, randomised, sham-controlled study followed by an open label extension phase - £25,000 - Research project grant - Dr Barbara Borroni, Department of Clinical and Experimental Sciences, University of Brescia, Brescia (Italy)

Awarded 2018

• Molecular mechanisms of R-loop-mediated frataxin gene silencing - £35,000 - Research project grant - Dr Natalia Gromak, Sir William Dunn School of Pathology, University of Oxford (UK)
• Generating new Freidreich's ataxia models for validating HSV-1 FXN gene therapy in Dorsal Root Ganglia - £60,000 - Research project grant - Dr Filip Lim, Department of Molecular Biology, Universidad Autonoma de Madrid (Spain)

Cerebellar Ataxia

Awarded 2023

• Looking beyond the central nervous system in SCA3: nerve and muscle ultrasound as potential imaging markers to quantify and monitor peripheral nervous system degeneration - £29,980 - Research project grant - Roderick Maas, Dr Bart van de Warrenburg, and Nens van Alfen, Department of Neurology, Radboud University Medical Center, Nijmegen (The Netherlands)
• Improving the diagnosis and management of gluten ataxia - £38,000 - Research project grant - Prof Marios Hadjivassiliou, Sheffield Teaching Hospitals NHS Trusts (UK)
• Identification of disease-associated single nucleotide polymorphisms in ataxin-3 of disease-associated single nucleotide polymorphisms in ataxin-3 - £4,470 - Small project grant - Dr Stefan Hauser, Prof Schöls Ludger and Jacob Helm, German Center for Neurodegenerative Diseases (Germany)
• Personalized gene editing approach for the treatment of Spinocerebellar Ataxia Type I (SCA1) - £5000 - Small project grant - Dr Francesca Salvatori, University of Ferrara (Italy)
• Evaluating ribosome collisions on CAG expansions, proteostasis and translational stress responses in Spinocerebellar Ataxia type 3 - £3000 - Small project grant - Dr Danilo Swann Matassa, University of Naples Federico II (Italy)
• NKX6-2 Related Spastic Ataxia and Leukodystrophy: Natural history, biomarkers and the potential of gene transfer methods - £69,988.29 - Research project grant - Dr Viorica Chelban and Prof Henry Houlden, University College London Queen Square Institute for Neurology (UK)
• Development of a PRIME editing therapy for Ataxia-8 due to the c.121 A to T point mutation - £8,036 - Small project grant - Prof Jacques Tremblay, Laval University (Canada)
• Development and Validation of SIMOA-based total and mutant Ataxin-2 Immunoassay for biomarker studies in SCA2 and SCA3 - £30,000 - Research project grant - Dr Jeannette Hübener-Schmid, Institute for Medical Genetics and Applied Genomics, University of Tübingen (Germany)

Awarded 2022

• A feasibility study of LSVT Artic to improve speech performance in people with progressive ataxia - £2,862 - Small project grant - Prof Anja Lowit, Strathclyde University & NHS Greater Glasgow and Clyde (UK)
• Balance and gait abnormalities in adult patients with mitochondrial disease and spinocerebellar ataxia type 6 - £4,928 - Small project grant - Dr Yi Shiau Ng, Wellcome Centre for Mitochondrial Research, Newcastle University (UK)
• Testing the multimodal anti-depressant vortioxetine as a therapeutic strategy to mitigate SCA3 - £30,000 - Research project grant - Dr Andreia Teixeira-Castro, University of Minho (Portugal)
• Evaluation of RNA trans-splicing as a therapeutic strategy for spinocerebellar ataxia type 1- £30,901 - Research project grant - Prof Karen Anthony, University of Northampton (UK)
• NanoSCA3: Development of brain-targeted nanobodies for application in spinocerebellar ataxia type 3 therapy - £25,800 – Research project grant. This project has been co-funded with other ataxia organisations across Europe, including Plataforma R+SCAs, AISA (Associazione Italiana per la lotta alle Sindromi Atassiche), ACAH (Catalan Association of Hereditary Ataxias) and the Swedish SCA-network - Dr Sandra Macedo Ribeiro, Instituto de Investigação e Inovação em Saúde - i3S (Portugal)
• Personalized gene editing approach for the treatment of Spinocerebellar Ataxia type 1 (SCA1) - £5,000 - Small project grant - Dr Francesca Salvatori, University of Ferrara (Italy)

Awarded 2021

• Motor and cognitive outcomes of non-invasive transcranial alternate current stimulation by entrainment of cerebellar oscillations - £5,000 - Small project grant - Dr Barbara Borroni, Department of Clinical and Experimental Sciences, University of Brescia, Brescia (Italy)
• Development of a PRIME editing therapy for Ataxia-8 due to the c.121 A to T point mutation - £34,600 – Research project grant. Funders: Ataxia UK and a restricted donation from DVS Foundation - Prof Jacques Tremblay, Department of Molecular Medicine, Faculty of Medicine, Laval University (Canada
• Assessment of ataxia severity under real-life conditions with SARAhome: A multicenter study in spinocerebellar ataxia type 3 (SCA3)- $80,000 – Research project grant. Funders: Ataxia UK and National Ataxia Foundation (NAF) - Dr Marcus Grobe-Einsler and Prof Thomas Klockgether, German Center for Neurodegenerative Diseases (DZNE), Bonn (Germany)

Awarded 2020

• PROSPAX: an integrated multimodal progression chart in spastic ataxias - £5,000 - Small project grant - Prof Rita Horvath, Department of Clinical Neurosciences, University of Cambridge (UK)
• A joint model of online SLT intervention and peer support to enhance communication effectiveness and participation in people with progressive ataxia - £5,977 - Research project grant - Prof Anja Lowit & Mrs Catherine McGee, Strathclyde University & NHS Greater Glasgow and Clyde (UK)
• NKX6-2 Related Spastic Ataxia and Leukodystrophy: Natural history, biomarkers and the potential of gene transfer methods - £69,988 – Research project grant. Funders: Ataxia UK and a restricted donation from DVS Foundation - Dr Viorica Chelban and Prof Henry Houlden, UCL Institute of Neurology, Queen Square, London (UK) 

Awarded 2019

• Non-invasive transcranial cerebella stimulation: double blind, randomised, sham-controlled study followed by an open label extension phase - £25,000 - Research project grant - Dr Barbara Borroni, Department of Clinical and Experimental Sciences, University of Brescia, Brescia (Italy)

Awarded 2018

• Modelling SCA11 in cultured cells using CRISPR/Cas9 - £5,000 - Small project grant - Dr Mariana Santos Moreda Graca, Institute for Molecular and Cell Biology (IBMC), Porto (Portugal)

Awarded 2016

• DNA repair pathways underlie common genetic mechanisms that modulate onset in spinocerebellar ataxias and other inherited ataxias - £70,000 – PhD studentship grant. Funders: Ataxia UK, ACAH, R+SCAs, UCL Impact PhD Studentship Scheme - Dr Conceicao Bettencourt, Prof Henry Houlden, Prof Wood & Prof Giunti, Institute of Neurology, University College London (London, UK)

Gluten ataxia

Awarded 2023

• Improving the diagnosis and management of Gluten ataxia - £38,000 - Research project grant - Prof Marios Hadjivassiliou, Prof Davis Sanders, Prof Nigel Hoggard and Dr Priya Shanmugarajah, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust