Professor Tom Gillingwater

Professor of Anatomy

Professor Tom Gillingwater

Professor of Anatomy

  • University of Edinburgh

Contact details



Old Medical School
Teviot Place

Post Code

Other affiliations


Tom graduated in Human Biology [Anatomy] from the University of Leeds before moving to the University of Edinburgh, graduating with a PhD in Neuroscience in 2001. Following a period of postdoctoral research, he was appointed to a Lectureship in Anatomy at the University of Edinburgh in 2004, promoted to a personal chair in 2010, and became the 15th Professor of Anatomy at the University of Edinburgh in 2015 (the Chair of Anatomy was founded in 1705).

Tom graduated from Edinburgh University Business School with an MBA in 2006, is an elected Fellow of the Anatomical Society (FAS), Royal Society of Biology (FRSB) and the Royal Microscopical Society (FRMS), and is an elected Member of the Institute of Directors (MIoD).

Tom leads a research team that has obtained in excess of £7million in research funding from a variety of international funding bodies. Tom has authored more than 100 papers in a variety of leading international journals, including Journal of Clinical Investigation, The Lancet, Nature Neuroscience, Brain, PLoS Genetics, Neuron, Nature Communications, eLife, Cell Reports, Journal of Neuroscience, Trends in Molecular Medicine, Genome Medicine, Human Molecular Genetics, Annals of Neurology, American Journal of Human Genetics and Current Biology. He has supervised or co-supervised more than 20 PhD and MSc student projects.

Tom has board-level experience from several national and international organisations (including Association Française Contre les Myopathies, the SMA Trust, the Anatomical Society, and NeuroORG) and sits on the editorial boards of international journals: he has been Editor-in-Chief at the Journal of Anatomy since 2011 and Associate Editor at the Journal of Neuromuscular Diseases since 2013. Tom regularly acts as an expert reviewer for international grant agencies, research journals and academic textbooks. He is currently serving as an external examiner for the Royal College of Surgeons in Ireland and is an Intercollegiate MRCS Examiner for the Royal College of Surgeons.

Teaching overview

Tom contributes to a range of undergraduate and postgraduate anatomy teaching at the University of Edinburgh, including many modules on the MBChB and the MSc in Human Anatomy. Tom is Course Director for Anatomy & Pathology 2, a core module on the BSc Medical Sciences degree program, and Anatomy & Development 3. Tom also contributes to several undergraduate and postgraduate neuroscience courses at Edinburgh and to postgraduate anatomy training courses at the Royal College of Surgeons of Edinburgh.

Research overview

Tom’s research laboratory is based in the Centre for Integrative Physiology and the Euan MacDonald Centre for Motor Neurone Disease Research. It focuses on understanding cellular and molecular mechanisms that regulate the form and function of the nervous system in health and disease. Members of the lab routinely combine quantitative imaging (e.g. confocal and electron microscopy) and molecular biology techniques (e.g. proteomics and microarray screens) to study the structure and function of the central and peripheral nervous systems, both in vivo and in vitro. Currently, research efforts are focussed on: i) understanding disease mechanisms and developing new therapies for motor neuron diseases, including spinal muscular atrophy (SMA); ii) understanding common cellular and molecular mechanisms that regulate the breakdown of axonal and synaptic compartments across a range of different neurodegenerative conditions (from motor neuron disease through to Alzheimer’s disease, lysosomal storage disorders, and Huntington’s disease); and iii) developing novel imaging strategies for visualising the human nervous system in vivo.

Selected representative research publications:

  • Rodríguez-Varela, R., Günther, T., Krzewińska, M., Storå, J., Gillingwater, T.H., MacCallum, M., Luis Arsuaga, J., Dobney, K., Valdiosera, C., Jakobsson, M., Götherström, A. & Girdland Flink, L. (2017) Genomic analysis of pre-conquest human remains from the Canary Islands reveal close affinity to modern North Africans. Current Biology In Press. 

  • Bernabò, P., Tebaldi, T., Groen, E.J.N., Lane, F.M., Perenthaler, E., Mattedi, F., Newbery, H.J., Zhou, H., Zuccotti, P., Potrich, V., Shorrock, H.K., Muntoni, F., Quattrone, A.*, Gillingwater, T.H.* & Viero, G.* (2017) In vivo translatome profiling in spinal muscular atrophy reveals a role for SMN protein in ribosome biology. Cell Reports 21: 953-965. *Joint senior/corresponding authors 

  • McQueen, J., Ryan, T.J., McKay, S., Marwick, K., Baxter, P., Carpanini, S.M., Wishart, T.M., Gillingwater, T.H., Manson, J.C., Wyllie, D.J.A., Grant, S.G.N., McColl, B., Komiyama, N.H. & Hardingham, G.E. (2017) Pro-death NMDA receptor signaling is promoted by the GluN2B C-terminus independently of DAPK1. eLife 6: e17161.

  • Farrar, M.A., Park, S,B., Vucic, S., Carey, K.A., Turner, B., Gillingwater, T.H., Swoboda, K. & Kiernan, M.C. (2017) Emerging therapies and challenges in Spinal Muscular Atrophy. Annals of Neurology 81: 355-368.

  • Boyd, P.J., Tu, W-Y., Shorrock, H.K., Groen, E.J.N., Carter, R.N., Powis, R.A., Thomson, S.R., Thomson, S.R., Thomson, D., Graham, L.C., Motyl, A.A.L., Wishart, T.M., Highley, J.R., Morton, N.M., Becker, T., Becker, C.G., Heath, P.R. & Gillingwater, T.H. (2017) Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genetics 13: e1006744.

  • Amorim, I.S., Graham, L.C., Carter, R.N., Morton, N.M., Hammachi, F., Kunath, T., Pennetta, G., Carpanini, S.M., Manson, J.C., Lamont, D.J., Wishart, T.M. & Gillingwater, T.H. (2017) Sideroflexin 3 is a α-synuclein-dependent mitochondrial protein that regulates synaptic morphology. Journal of Cell Science 130: 325-331.

  • Thomson, A.K., Somers, E., Powis, R.A., Shorrock, H.K., Murphy, K., Swoboda, K.J., Gillingwater, T.H. & Parson, S.H. (2017) SMN protein is required for normal postnatal development of the spleen. Journal of Anatomy 230: 337-346.

  • Gillingwater, T.H. (2016) Dawn of a new therapeutic era for SMA. The Lancet 388: 2964–2965.

  • Hunter, G., Powis, R.A., Jones, R.A., Groen, E.J.N., Shorrock, H.K., Lane, F.M., Zheng, Y., Anderson, H., Sherman, D.L., Brophy, P.J. & Gillingwater, T.H. (2016) Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy. Human Molecular Genetics 25: 2853-2861.

  • Jones, R.A., Reich, C.D., Dissanayake, K.N., Kristmundsdottir, F., Findlater, G.S., Ribchester, R.R., Simmen, M. W. & Gillingwater, T.H. (2016) NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction. Open Biology 6: 160240.

  • Gillingwater, T.H. (2016) Revealing the secrets of the dead. The Lancet 388: 1974.

  • Szunyogova, E., Zhou, H., Maxwell, G.K., Powis, R.A., Muntoni, F., Gillingwater, T.H. & Parson, S.H. (2016) Survival Motor Neuron (SMN) protein is required for normal mouse liver development. Scientific Reports 6: 34635.

  • Powis, R.A., Karyka, E., Boyd, P., Come, J., Jones, R.A., Zheng, Y., Szunyogova, E., Groen, E.J.N., Hunter, G., Thomson, D., Wishart, T.M., Becker, C.G., Parson, S.H., Martinat, C., Azzouz, M. & Gillingwater, T.H. (2016) Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. Journal of Clinical Investigation Insight 1: e87908.

  • Somers, E., Lees, R.D., Hoban, K., Sleigh, J.N., Zhou, H., Muntoni, F., Talbot, K., Gillingwater, T.H. & Parson, S.H. (2016) Vascular defects and spinal cord hypoxia in spinal muscular atrophy. Annals of Neurology 79: 217-230.

  • Powis, R.A. & Gillingwater, T.H. (2016) Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy. Journal of Anatomy 228: 443-451.

  • Nicholson-Fish J.C., Kokotos A.C., Gillingwater T.H., Smillie K.J. & Cousin M.A. (2015) VAMP4 is an essential cargo molecule for activity-dependent bulk endocytosis. Neuron 88: 973-984

  • Amorim, I.S., Mitchell, N.L., Palmer, D.N., Sawiak, S.J., Mason, R., Wishart, T.M. & Gillingwater, T.H. (2015) Molecular neuropathology of the synapse in sheep with CLN5 Batten disease. Brain & Behavior 5: e00401.

  • Groen, E.J. & Gillingwater, T.H. (2015) UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration. Trends in Molecular Medicine 21: 622-632.

  • Gillingwater, T.H. & Findlater, G.S. (2015) Anatomy: back in the public spotlight. The Lancet 385: 1825.

  • Baxter, P.S., Bell, K.F., Kaindl, A., Fricker, M., Thomson, D., Tolkovsky, A., Gillingwater, T.H. & Hardingham, G.E. (2015) Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system in the developing forebrain. Nature Communications 6: 6761.

  • Little, D., Valori, C.F., Mutsaers, C.A., Bennett, E.J., Wyles, M., Shaw, P.J., Gillingwater, T.H., Azzouz, M. & Ning, K. (2015) PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy. Molecular Therapy 23: 270-277.

  • Aghamaleky Sarvestany, A., Hunter, G., Tavendale, A., Lamont, D.J., Llavero Hurtado, M., Graham, L.C., Wishart, T.M. & Gillingwater, T.H. (2014) Label-free quantitative proteomic profiling identifies disruption of ubiquitin homeostasis as a key driver of Schwann cell defects in spinal muscular atrophy. Journal of Proteome Research 13: 4546-4557. 
  • Powis, R.A., Mutsaers, C.A., Wishart, T.M., Hunter, G., Wirth, B. & Gillingwater, T.H. (2014) Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target. Neuropathology & Applied Neurobiology 40: 873-887. 
  • Hunter, G., Roche, S.L., Somers, E., Fuller, H. & Gillingwater, T.H. (2014) The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: Implications for pre-clinical studies and clinical trials for spinal muscular atrophy. Neuromuscular Disorders 24: 973-977.
  • Roche, S.L., Sherman, D.L., Dissanayake, K., Soucy, G., Desmazieres, A., Lamont, D.J., Peles, E., Julien, J-P., Wishart, T.M., Ribchester, R.R., Brophy, P.J. & Gillingwater, T.H. (2014) Loss of Glial Neurofascin155 Delays Developmental Synapse Elimination at the Neuromuscular Junction. Journal of Neuroscience 34: 12904-12918.

  • Wishart, T.M., Mutsaers, C.A., Riessland, M., Reimer, M.R., Hunter, G., Hannam, M.L., Eaton, S., Fuller, H.R., Roche, S.L., Somers, E., Morse, R., Young, P.J., Lamont, D.J., Hammerschmidt, M., Joshi, A., Hohenstein, P., Morris, G.E., Parson, S.H., Skehel, P.A., Becker, T., Robinson, I.M., Becker, C.G., Wirth, B. & Gillingwater, T.H. (2014) Dysregulation of ubiquitin homeostasis and β-catenin signalling promote spinal muscular atrophy. Journal of Clinical Investigation 124: 1821-1834.

  • Hunter, G., Aghamaleky Sarvestany, A., Roche, S.L., Symes, R.C. & Gillingwater, T.H. (2014) SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy. Human Molecular Genetics 23: 2235-2250.

  • Pettit, L.D., Bastin, M.E., Smith, C., Bak, T.H., Gillingwater, T.H. & Abrahams, S. (2013) Executive deficits, not processing speed relates to abnormalities in distinct prefrontal tracts in amyotrophic lateral sclerosis. Brain 136: 3290-3304.

  • Mutsaers, C.A., Lamont, D.J., Hunter, G., Wishart, T.M. & Gillingwater, T.H. (2013) Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy. Genome Medicine 5: 95.

  • Eaton, S.L., Roche, S.L., Llavero, M., Oldknow, K., Farquharson, C., Gillingwater, T.H. & Wishart, T.M. (2013) Total protein analysis as a reliable loading control for quantitative Western blotting. PLoS One 8: e72457.

  • Kay, K., Smith, C., Wright, A.K., Serrano-Pozo, A., Pooler, A., Koffie, R., Bastin, M.E., Bak, T.H., Abrahams, S., Kopeikina, K.J., Frosch, M., Gillingwater, T.H., Hyman, B.T. & Spires-Jones, T.L. (2013) Studying synapses in human brain with array tomography and electron microscopy. Nature Protocols 8: 1366-1380.

  • Simpson, A.H., Gillingwater, T.H., Anderson, H., Cottrell, D., Sherman, D.L., Ribchester, R.R. & Brophy, P.J. (2013) Effect of limb lengthening on internodal length and conduction velocity of peripheral nerve. Journal of Neuroscience 33: 4536-4539. 

  • Hamilton, G. & Gillingwater, T.H. (2013) Spinal muscular atrophy: going beyond the motor neuron. Trends in Molecular Medicine 19: 40-50.

  • Wishart, T.M., Rooney, T., Lamont, D.J., Wright, A.K., Morton, A.J., Jackson, M., Freeman, M.R. & Gillingwater, T.H. (2012) Combining Comparative Proteomics and Molecular Genetics Uncovers Regulators of Synaptic and Axonal Stability and Degeneration In Vivo. PLoS Genetics 8: e1002936.

  • Avery, M., Rooney, T.M., Pandya, J.D., Wishart, T.M., Gillingwater, T.H., Geddes, J.W., Sullivan, P. & Freeman, M.R. (2012) WldS prevents axon degeneration through increased mitochondrial flux and enhanced mitochondrial Ca2+ buffering. Current Biology 22: 596-600.

  • Findlater, G.S., Kristmundsdottir, F., Parson, S.H. & Gillingwater, T.H. (2012) Development of a supported self-directed learning approach for anatomy education. Anatomical Sciences Education 5: 114-121.

  • Mutsaers, C.A., Wishart, T.M., Lamont, D.J., Riessland, M., Comley, L.H., Murray, L.M., Parson, S.H., Lochmüller, H., Wirth, B., Talbot, K. & Gillingwater, T.H. (2011) Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Human Molecular Genetics 20: 4334-4344.

  • Patani, R., Hollins, A.J., Wishart, T.M., Puddifoot, C.A., Alvarez, S., de Lera, A.R., Wyllie, D.J.A., Compston, D.A.S., Pedersen, R.A., Gillingwater, T.H., Hardingham, G.E., Allen, N.D & Chandran, S. (2011) Retinoid independent motor neurogenesis from human embryonic stem cells reveals a medial columnar ground state. Nature Communications 2: 214.

  • Comley, L.H., Fuller, H.R., Wishart, T.M., Mutsaers, C.A., Thomson, D., Wright, A.K., Ribchester, R.R., Morris, G.E., Parson, S.H., Horsburgh, K. & Gillingwater, T.H. (2011) ApoE isoform-specific regulation of regeneration in the peripheral nervous system. Human Molecular Genetics 20: 2406-2421.

  • Murray, L.M., Comley, L.H., Gillingwater, T.H. & Parson, S.H. (2011) The response of neuromuscular junctions to injury is developmentally regulated. FASEB Journal 25: 1306-1313.