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, Ireland. 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 with my colleagues have established the Wellcome Centre for Mitochondrial Research at Newcastle University as an internationally renowned centre of excellence in mitochondrial disease.

Research Biography

I established and now lead the Newcastle Mito Hub – a research group designed to build on the world-class medical science at Newcastle University. I have led the development of clinical operating procedures for this group and hold overall responsibility for its use and governance. The Newcastle Mito Hub is growing to become the clinical platform for therapeutic interventions in mitochondrial medicine research in collaboration between the Wellcome Centre for Mitochondrial Research at Newcastle University and the Newcastle Hospitals Trust.

Research Interests

I have developed research programs on two levels; 1) investigating genotype-phenotype correlations of primary mitochondrial disorders to better understand the basic pathophysiology and improve diagnostic yield (the first translational gap), and 2) Identifying strategic patient-centred research themes and validated outcomes (the second translational gap). I have established clinical trials in mitochondrial disease where there was previously little or no clinical trial research activity in the UK.

Recent Key publications

1. Gráinne S Gorman, Robert McFarland, Jane Stewart, Catherine Feeney, Doug M Turnbull. Mitochondrial donation from test tube to clinic. The Lancet 2018;6;392:1191-1192.

2.Kees Okkersen*, Cecilia Jimenez-Moreno*, Stephan Wenninger*, Ferroudja Daidj*, Jeffrey Glennon, Sarah Cumming, Roberta Littleford, Darren G Monckton, Hanns Lochmüller, Michael Catt, Catharina G Faber, Adrian Hapca, Peter T Donnan, Gráinne Gorman*, Guillaume Bassez*, Benedikt Schoser*, Hans Knoop*, Shaun Treweek*, Baziel G M van Engelen*, for the OPTIMISTIC consortium. 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, 671-680 (*equal contribution)

3.Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load Ebiomedicine 2018;30:86-93.

4.Yi Shiau Ng, Catherine Feeney, Andrew M Schaefer, C Holmes, P Hynd, C Alston, John P Grady, Mark Roberts, Mellisa Maguire, Alexandra Bright, Robert W Taylor, Yan Yiannakou, Robert McFarland, Doug M Turnbull, Gráinne S Gorman. Pseudo-obstruction, stroke and mitochondrial dysfunction: a lethal combination. Annals of Neurology 2016;80:686-92.

*5.Yi Shiau Ng, John P Grady, Nichola Z Lax, Charlotte L Alston, Steven A Hardy, Gavin Falkous, Andrew G Schaefer, John P Bourke, Aleksandar Radunovic, Saidi A Mohiddin, Matilda Ralph, Ali Alhakim, Robert W Taylor, Robert McFarland, Douglass M Turnbull, Gráinne S Gorman. Sudden Adult Death Syndrome in m.3243A>G-related mitochondrial disease: an unrecognised clinical entity in young, asymptomatic adults. Eur Heart J. 2016;21;37(32):2552-9

*6. Grainne S. Gorman, John P. Grady, Yi Ng1, Andrew M. Schaefer, Richard J. McNally, Patrick F. Chinnery, Patrick Yu Wai Man, Mary Herbert, Robert W. Taylor, Robert McFarland, Doug M. Turnbull. Mitochondrial Donation: How many women could benefit? N Engl J Med. 2015. 26;372:p. 885-7

7.Gráinne S Gorman, Andrew M. Schaefer, Yi Ng, Nicholas Gomez, Emma L. Blakely, Charlotte L. Alston, Catherine Feeney, Patrick Yu-Wai-Man, Patrick F Chinnery, Robert W. Taylor, Douglass M. Turnbull, Robert McFarland Prevalence of nuclear and mtDNA mutations related to adult mitochondrial disease JAMA Neurology, 2015. 72: p. 106-111

8.Grainne S. Gorman*, Emma L. Blakely*, Hue-Tran Hornig-Do*, Helen A.L. Tuppen, Laura C. Greaves, Langping He, Angela Baker, Gavin Falkous, Jane Newman, Michael I.Trenell, Bryan Lecky, Richard K. Petty, Doug M. Turnbull, Robert McFarland and Robert W. Taylor. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression Clin Sci. 2015;128: p.895- 904

9.Gráinne S Gorman*, Gerald Pfeffer*, Emma. L. Blakely, Jessica Gabriel, Marzena Kurzawa-Akanbi, Kamil Sitarz, Mark Roberts, Benedict Schoser, Andrew M. Schaefer, Robert McFarland, Douglass M. Turnbull, Rita Horvath, Patrick F Chinnery, Robert W. Taylor. Clonal expansion of secondary mtDNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurol. 2015;72:106-11.

10.Gerald Pfeffer*, GS Gorman*, Helen Griffin, Marzena Kurzawa-Akanbi, Emma. L. Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L. Murphy, Charlotte. L. Alston, Angela Pyle, Jon Coxhead, Brendan Payne, George H. Gorrie¬, Cheryl Longman, Marios Hadjivassiliou, John McConville, David Dick, Ibrahim Imam, David Hilton, Fiona Norwood, Mark R. Baker, Stephan R. Jaiser, Patrick Yu-Wai-Man, Michael Farrell, Allan McCarthy, Timothy Lynch, Robert McFarland, Andrew M. Schaefer, Douglass M. Turnbull, Rita Horvath, Robert W. Taylor, Patrick F Chinnery. Mutations in SPG7 cause chronic progressive external ophthalmoplegia through disordered mtDNA maintenance. Brain 2014; 137: p.1323-36.