Staff Profile

I completed my PhD at Deakin University, Australia in 2014, investigating the molecular regulation of skeletal muscle mass in response to exercise and nutritional interventions.

Since 2015 I have been working with Professor Grainne Gorman and esteemed colleagues within the Wellcome Centre for Mitochondrial Research where I have worked in the set up and delivery of clinical trials (including CTIMPS and non-CTIMPS). I am also an accredited (ACSM) clinical exercise physiologist, prescribing personalised exercise programmes to patients with mitochondrial disease- seen at the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, in Newcastle. 

Education & Training

Certified Clinical Exercise Physiologist – American College of Sports Medicine (ACSM)

PhD Skeletal muscle physiology/ molecular biology – Deakin University, Australia

BSc Exercise and Sports Science (1st Class Hons) – Deakin University, Australia

BSc Exercise and Sports Science – Deakin University, Australia

My research has primarily focused on better understanding the physiology of exercise intolerance in patients with mitochondrial disease, and the effect of therapeutic interventions. More recently, my research interests have expanded through direct involvement of patient care at the national mitochondrial clinic. This has provided me with an invaluable insight into the multisystemic nature of mitochondrial disease and has driving my commitment to translate clinical research into improving patient lives. In addition, I am interested in developing biomarkers to faciliate diagnosis, track disease progression and response to treatment.

Deakin University, Australia (2009 – 2015)

Undergraduate sessional academic- (laboratory and tutorial demonstrator for the following units):

Human Structure and Function (HBS109)

Exercise Physiology (HSE201)

Integrated Human Physiology (HSE208)

• Articles

  • Cassidy S, Trenell M, Stefanetti RJ, Charman SJ, Barnes AC, Brosnahan N, McCombie L, Thom G, Peters C, Zhyzhneuskaya S, Leslie WS, Catt C, Catt M, McConnachie A, Sattar N, Sniehotta FF, Lean MEJ, Taylor R. Physical activity, inactivity and sleep during the Diabetes Remission Clinical Trial (DiRECT). Diabetic Medicine 2023, 40(3), e15010.
  • Houghton D, Ng YS, Jackson MA, Stefanetti R, Hynd P, Aogáin MM, Stewart CJ, Lamb CA, Bright A, Feeney C, Newman J, Turnbull DM, McFarland R, Blain AP, Gorman GS. Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease. Gastro Hep Advances 2022, 1(4), 666-677.
  • Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G. Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. Trials 2022, 23(1), 789.
  • Tinker R, Lim A, Stefanetti RJ, McFarland R. Current and emerging clinical treatment in mitochondrial disease. Molecular Diagnosis & Therapy 2021, 25, 181-206.
  • Steele H, Gomez-Duran A, Pyle A, Hopton S, Newman J, Stefanetti RJ, Charman SJ, Parikh JD, He L, Viscomi C, Jakovljevic DG, Hollingsworth KG, Robinson AJ, Taylor RW, Bottolo L, Horvath R, Chinnery PF. Metabolic effects of bezafibrate in mitochondrial disease. EMBO Molecular Medicine 2020, 12(3), e11589.
  • Feeney C, Gorman G, Stefanetti R, McFarland R, Turnbull D, Harding C, Sachdeva A. Lower urinary tract dysfunction in adult patients with mitochondrial disease. Neurourology and Urodynamics 2020, 39(8), 2253-2263.
  • Khanna A, Jopson L, Howel D, Bryant A, Blamire A, Newton JL, Wilkinson J, Steel AJ, Bainbridge J, Stefanetti R, Cassidy S, Houghton D, Jones DE. Rituximab for the Treatment of Fatigue in Primary Biliary Cholangitis (formerly Primary Biliary Cirrhosis) A Randomised Controlled Trial. Efficacy and Mechanism Evaluation 2018, 5(2), 1-78.
  • Lean MEJ, Leslie WS, Barnes AC, Brosnahan N, Thom G, McCombie L, Peters C, Zhyzhneuskaya S, Al-Mrabeh A, Hollingsworth KG, Rodrigues AM, Rehackova L, Adamson AJ, Sniehotta FF, Mathers JC, Ross HM, McIlvenna Y, Stefanetti R, Trenell MI, Welsh P, Kean S, Ford I, McConnachie A, Sattar N, Taylor R. Primary care-led weight management for remission of type 2 diabetes (DiRECT): an open-label, cluster-randomised trial. The Lancet 2018, 391(10120), 541-551.
  • Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM, Kierkegaard M, Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton D, Lochmuller H, Catt M, Faber C, Hapca A, Donnan P, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen B, Nikolaus S, Cornelissen Y, van Nimwegen M, Klerks E, Bouman S, Heskamp L, Heerschap A, Rahmadi R, Groot P, Heskes T, Kapusta K, Abghari S, Aschrafi A, Poelmans G, Raaphorst J, Trenell M, van Laar S, Wood L, Cassidy S, Newman J, Charman S, Steffaneti R, Taylor L, Brownrigg A, Day S, Atalaya A, Schuller A, Stahl K, Kunzel H, Wolf M, Jelinek A, Lignier B, Couppey F, Delmas S, Deux J-F, Hankiewicz K, Dogan C, Minier L, Chevalier P, Hamadouche A, Adam B, Hannah M, McKenzie E, Rauchhaus P, Van Hees V, Catt S, Schwalber A, Merkies I, Dittrich J. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. The Lancet Neurology 2018, 17(8), 671-680.
  • Charman SJ, Okwose NC, Stefanetti RJ, Bailey K, Skinner J, Ristic A, Seferovic PM, Scott M, Turley S, Fuat A, Mant J, Hobbs FDR, MacGowan GA, Jakovljevic DG. A novel cardiac output response to stress test developed to improve diagnosis and monitoring of heart failure in primary care. ESC Heart Failure 2018, 5(4), 703-712.
  • Stefanetti RJ, Lamon S, Wallace M, Vendelbo MH, Russell AP, Vissing K. Regulation of ubiquitin proteasome pathway molecular markers in response to endurance and resistance exercise and training. Pflügers Archiv - European Journal of Physiology 2015, 467(7), 1523–1537.
  • Stefanetti RJ, Lamon S, Rahbek SK, Farup J, Zacharewicz E, Wallace MA, Vendelbo MH, Russell AP, Vissing K. Influence of divergent exercise contraction mode and whey protein supplementation on atrogin-1, MuRF1, and FOXO1/3A in human skeletal muscle. Journal of Applied Physiology 2014, 116(11), 1491-502.
  • Stefanetti RJ, Zacharewicz E, Della Gatta P, Garnham A, Russell AP, Lamon S. Ageing has no effect on the regulation of the ubiquitin proteasome-related genes and proteins following resistance exercise. Frontiers in Physiology 2014, 5, 30.
  • Michailidis Y, Karagounis LG, Terzis G, Jamurtas AZ, Spengos K, Tsoukas D, Chatzinikolaou A, Mandalidis D, Stefanetti RJ, Papassotiriou I, Athanasopoulos S, Hawley JA, Russell AP, Fatouros IG. Thiol-based antioxidant supplementation alters human skeletal muscle signaling and attenuates its inflammatory response and recovery after intense eccentric exercise. The American Journal of Clinical Nutrition 2013, 98(1), 233–245.
  • Lamon S, Wallace MA, Stefanetti RJ, Rahbek SK, Vendelbo MH, Russell AP, Vissing K. Regulation of the STARS signaling pathway in response to endurance and resistance exercise and training. Pflügers Archiv - European Journal of Physiology 2013, 465(9), 1317–1325.
  • Vissing K, Rahbek SK, Lamon S, Farup J, Stefanetti RJ, Wallace MA, Vendelbo MH, Russell A. Effect of resistance exercise contraction mode and protein supplementation on members of the STARS signalling pathway. The Journal of Physiology 2013, 591(15), 3749–3763.

• Conference Proceedings (inc. Abstract)

  • Djordje J, Charman SJ, Okwose NC, Stefanetti RJ, Bailey K, Skinner J, Scott M, Mant J, Hobbs FDR, MacGowan GA. Reproducibility of a simple cardiac output response to stress test to diagnose and monitor heart failure in a primary care setting. In: BJGP Research Conference. 2018, London, UK: British Journal of General Practice.

• Reviews

  • Stefanetti RJ, Ng YS, Errington L, Blain AP, McFarland R, Gorman GS. l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. Neurology 2022, 98(23), E2318-E2328.
  • Stefanetti RJ, Blain A, Jimenez-Moreno C, Errington L, Ng YS, McFarland R, Turnbull DM, Newman J, Gorman GS. Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]. Wellcome Open Research 2020, 5(84).
  • Stefanetti RJ, Voisin S, Russell A, Lamon S. Recent advances in understanding the role of FOXO3 [version 1; referees: 4 approved]. F1000Research 2018, 7, 1372.