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)

Cerebellar Ataxia

Awarded 2024

Supporting a genome-wide association study of genetic modifiers of age of onset in spinocerebellar ataxia 27B - £30,000 - Research Project Grant - Professor Stephan Zuchner, David Pellerin, Henry Houlden and Bernard Brais, leading site Miami Miller School of Medicine (US)
Refinement of allele-specific antisense oligonucleotides for spinocerebellar ataxia type 3 - £28,775 - Research Project Grant - Dr Stefan Hauser, German Center for Neurodegenerative Diseases (Germany)
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)
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)

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