Wellcome Trust Centre For Mitochondrial Research

Dr Grainne Gorman

Personal Biography

I qualified from the Royal College of Surgeons in Ireland (RCSI), in 1997 and completed three years of general medical training in Dublin. I became medical tutor for third and final medical year students at RCSI, for one year, prior to commencing my clinical training in neurology. After completion of my specialist training, I moved to Newcastle to further my interest in neuromuscular diseases. I am now a Consultant Neurologist and contribute to the clinical service of patients with mitochondrial disease with other members of the Wellcome Trust Centre for Mitochondrial Research team. I am also clinical lead of Movelab, the Muscle and Exercise Performance laboratory based at Newcastle University.

Research Biography

I began my research in Newcastle in 2007, when I joined the Mitochondrial Research Group, evaluating potential new pharmacological treatments for patients with mitochondrial diseases. More recently, I have been delivering and evaluating evidence-based physical activity and exercise interventions for the management of mitochondrial disorders.

Research Interests

The aim of my research is to devise and facilitate the prescription of safe and effective exercise protocols into clinical practice which will support people with mitochondrial myopathies to sustain a more physically active lifestyle, whilst targeting the underlying disease mechanisms in a condition, which, currently there are no known cures and few effective treatments.

Other major research themes include:

  • Clinical and molecular aspects of mitochondrial disease.
  • Advanced cardiac monitoring to establish the safety and efficacy of exercise in patients with mitochondrial disease.
  • Bringing together our experiences of exercise prescription in developing complex interventions, such as exercise and physical activity, to understand how a physical activity care pathway could be designed and implemented, in collaboration with patients.
  • Evaluation of cognitive changes in patients with mitochondrial myopathies.
  • Development and validation of a patient-centred and disease-specific quality of life tool.
  • Analysis of functional outcome measures that enable us to quantify the impact of symptoms on functional capacity and health related quality of life.

Finally another major area of research interest is to explore the emerging role of mitochondrial mechanisms and exercise in age-related loss of muscle mass and strength which begins in the fourth decade of life. This has synonymous associations with increased fragility, loss of functional capacity, loss of independence and increased burden on healthcare costs.

Recent Key publications

1. J.L. Elson, M. Cadogan, S. Apabhai, R.G. Whittaker, A. Phillips, M. Trennell, R. Horvath, R.W. Taylor, R. McFarland, E. McColl, D.M. Turnbull, G.S. Gorman. Initial development and validation of a mitochondrial disease quality of life scale. In press NMD 2013.

2.Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012;135:3392-403.

3.Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, Macgowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. Eur Heart J Cardiovasc Imaging. Eur Heart J Cardiovasc Imaging. 2012 Nov 4. [Epub]

4. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load. Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, Macgowan GA, Blamire AM, Chinnery PF. Neuromuscul Disord. 2012;22:592-6.

5. Habitual physical activity in mitochondrial disease. Apabhai S, Gorman GS, Sutton L, Elson JL, Plötz T, Turnbull DM, Trenell MI. PLoS One. 2011;6:e22294.

6. C Fratter, P Raman, CL Alston, EL. Blakely, K Craig, C Smith, J Evans, A Seller, B Czermin, MG Hanna, J Poulton, C Brierley, TG. Staunton, PD. Turnpenny, AM. Schaefer, PF. Chinnery, R Horvath, DM. Turnbull, GS.GORMAN, RW. Taylor, RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. Neurology 2011; 76:2032-2034

7. GS GORMAN & RW Taylor. Mitochondrial DNA abnormalities in ophthalmological disease. Review – Saudi Journal of Ophthalmology 2011

8. P Yu-Wai-Man, PG Griffiths, GS GORMAN, CM Lourenco, A Wright, M Auer-Grumbach, A Toscano, O Musumeci, ML Valentino, L Caporali, C Lamperti, CM Thallaksen, P Duffey, J Miller, RG Whittaker, MR Baker, MJ Jackson, MP Clarke, B Dhillon, B Czermin, JD Stewart, G Hudson, P Reynier, D Bonneau, G Lenaers, R McFarland, RW Taylor, DM Turnbull, M Votruba, M Zeviani, V Carelli, L Bindoff, R Horvath, P Amati-Bonneau, PF Chinnery. OPA1 mutations frequently cause multi-system neurological disease. Brain 2010;133:771-86.