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)
• Exploring novel iron-mediated mechanisms to prevent cellular death in Friedreich's ataxia - £5,000 - Small project grant - Dr Rosella Abeti and Prof Paola Giunti, Ataxia Centre, UCL Institute of Neurology, London (UK)
• Effect of targeting sphingolipid-metabolising enzymes in iPSC-derived sensory neurons obtained from FRDA patients  - £4,955 - Small project grant - Dr Sara Anjomani Virmouni, Brunel University, London (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)

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 2024

• Towards a pharmacological model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) - £5000 - Small Project Grant - Dr Federico Herrera, University of Lisboa (Portugal)
• Restoring NKX6-2 function by protein complementation: a proof-of-concept - £5000 - Small Project Grant - Dr Federico Herrera, University of Lisboa (Portugal)
• A feasibility study of Remote Patient-Reported Outcome measures in Mitochondrial disease and Spinocerebellar ataxias (R-PROMS) - £4,998 - Small Project Grant - Dr Yi Shiau Ng, Newcastle University (UK)

Awarded 2023

• 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)
• 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)
• 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

Dentatorubral-pallidoluysian atrophy (DRPLA)

Awarded 2022

• Determine mitochondrial metabolism in DRPLA: a possible novel therapeutic approach - £25,000 - Prof Paola Giunti and Dr Rosella Abeti from University College London (UK) and Dr Manolis Fanto from King’s College London (UK).
• Validating the therapeutic effect of an antisense oligonucleotide on mitochondrial physiology in cellular models of DRPLA - £26,934.55 - Prof Paola Giunti and Dr Rosella Abeti from University College London (UK) and Dr Manolis Fanto from King’s College London (UK).

Awarded 2020-2021

• Dentatorubral-pallidoluysian atrophy Natural History and Biomarkers Study (DRPLA NHBS) - £1,818,319 - International collaboration with researchers in the UK and the US
• Redenlab Speech Battery for the Dentatorubral-pallidoluysian Atrophy Natural History (DRPLA NHBS) - £51,131 - Prof. Adam Vogel, The University of Melbourne & Redenlab (Australia)
• Ataxia Instrumented Measure – Spoon (AIM-S) for the DRPLA NHBS - £71,311 - Associate Professor Louise Corben, Deakin University (Australia)

Awarded 2019

• Preclinical development of an amelioration therapy for Dentatorubro-pallidoluysian Atrophy (DRPLA) - £100,000 - Dr Giovanni Stevanin, Institut du Cerveau et de la Moelle épinière (ICM), Paris (France)