Prof Tom Gillingwater

Research in the Gillingwater lab focuses on understanding cellular and molecular mechanisms that regulate the form and function of the nervous system in health and disease.

Professor Tom Gillingwater

Professor of Anatomy

Old Medical School 

Teviot Place

Edinburgh EH8 9AG

Contact details

 Work: +44 (0)131 650 3724

 Email: T.Gillingwater@ed.ac.uk

Other affiliations

Anatomy@Edinburgh

Euan MacDonald Centre for Motor Neurone Disease Research

 

Biography

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 Royal Society of Edinburgh (FRSE), Anatomical Society (FAS), Royal Society of Biology (FRSB), Royal Society of Arts (FRSA), and Royal Microscopical Society (FRMS).

Tom leads an active research team that has secured in excess of £10million in research funding from a variety of international funding bodies. Tom has authored more than 150 papers in a variety of leading international journals, including Journal of Clinical Investigation, Cell Reports, The Lancet, Nature Cell Biology, Neuron, Nature Reviews Neurology, Nature Communications, Nature Neuroscience, Brain, Genome Biology, PLoS Genetics, Acta Neuropathologica, Trends in Molecular Medicine, Genome Medicine, Annals of Neurology, Current Biology, American Journal of Human Genetics, Human Molecular Genetics, eLife, and Journal of Neuroscience. He has supervised or co-supervised more than 40 PhD and MSc research students.

Tom has board-level experience from several national and international organisations (including Association Française Contre les Myopathies, the SMA Trust, SMA Europe, Muscular Dystrophy UK, and the Anatomical Society) 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 has served as an external examiner for the University of Oxford and NUI Galway, and is an Intercollegiate MRCS Examiner for the Royal College of Surgeons.

Teaching overview

Tom has overall responsibility for, and teaches on all aspects of, the wide range of undergraduate and postgraduate anatomy activities at the University of Edinburgh, including the MBChB, the MSc in Human Anatomy and the Online Distance Learning Programme in Anatomical Sciences. He is also Course Director for Anatomy & Pathology 2 (BSc Medical Sciences) and Course Director for Anatomy & Development 3 (BSc Biomedical Sciences). In addition, Tom and colleagues have developed an extensive portfolio of external anatomy teaching activities, ranging from school outreach projects and public anatomy workshops, through to specialist clinical/surgical training courses (several in collaboration with the Royal College of Surgeons of Edinburgh and other external partner organisations).

Research overview

Tom’s research laboratory is based in the Centre for Discovery Brain Sciences 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) and amyotrophic lateral sclerosis (ALS); ii) understanding common cellular and molecular mechanisms that regulate the breakdown of synaptic compartments of neurons across a range of different neurodegenerative conditions; and iii) developing novel imaging strategies for visualising the human nervous system in vivo. Tom is also actively pursuing research aiming to improve standards of anatomy/medical education, and is building international collaborative links to facilitate the utilisation of historical anatomy collections in cutting edge (e.g. genomic) research.

Selected research publications:

For full publication list and citations please click here.

  • Gillingwater, T.H. (2021) Maximising returns: combining newborn screening with gene therapy for spinal muscular atrophy. Journal of Neurology, Neurosurgery and Psychiatry In Press. 

  • Chaytow, H., Faller, K.M.E., Huang, Y-T. & Gillingwater, T.H. (2021) Spinal muscular atrophy (SMA): from approved therapies to future therapeutic targets for personalized medicine. Cell Reports Medicine 2: 100346. 

  • James, R., Chaytow, H., Ledahawsky, L.M. & Gillingwater, T.H. (2021) Revisiting the role of mitochondria in spinal muscular atrophy. Cellular & Molecular Life Sciences 78:4785-4804.

  • Alhindi, A., Boehm, I., Forsythe, R.O., Miller, J., Skipworth, R.J.E., Simpson, H., Jones, R.A. & Gillingwater, T.H. (2021) Terminal Schwann cells at the human neuromuscular junction. Brain Communications 3: fcab081.

  • Lauria, F., Bernabò, P., Tebaldi, T., Groen, E.J.N., Perenthaler, E., Maniscalco, F., Rossi, A., Donzel, D., Clamer, M., Marchioretto, M., Omersa, N., Orri, J., Dalla Serra, M., Anderluh, G., Quattrone, A., Inga, A., Gillingwater, T.H.* & Viero, G.* (2020) SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy. Nature Cell Biology 22: 1239-1251. *Joint senior authors

  • Motyl, A.A.L., Faller, K.M.E., Groen, E.J.N., Kline, R.A., Eaton, S.L., Ledahawsky, L.M., Chaytow, H., Lamont, D.J., Wishart, T.M., Huang, Y.T. & Gillingwater, T.H. (2020) Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy. Human Molecular Genetics 29:2674-2683.

  • Boehm, I., Alhindi, A., Leite, A.S., Logie, C., Gibbs, A., Murray, O., Farrukh, R., Pirie, R., Proudfoot, C., Clutton, R., Wishart, T.M., Jones, R.A. & Gillingwater, T.H. (2020) Comparative anatomy of the mammalian neuromuscular junction. Journal of Anatomy 237: 827-836.

  • Boehm, I., Miller, J., Wishart, T.M., Wigmore, S.J., Skipworth, R.J.E., Jones, R.A. & Gillingwater, T.H.(2020) Neuromuscular junctions are stable in patients with cancer cachexia. Journal of Clinical Investigation 130: 1461-1465.

  • Graham, L.C., Naldrett, M.J., Kohama, S.G., Smith, C., Lamont, D.J., McColl, B.W., Gillingwater, T.H.,Skehel, P., Urbanski, H.F. & Wishart, T.M. (2019) Regional molecular mapping of primate synapses during normal healthy ageing. Cell Reports 24: 1018-1026.

  • Shorrock, H.K., van der Hoorn, D., Boyd, P.J., Hurtado, M.L., Lamont, D.J., Wirth, B., Sleigh, J.N., Schiavo, G., Wishart, T.M., Groen, E.J.N. & Gillingwater, T.H. (2018) UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy. Brain 141: 2878-2894.

  • Clamer, M., Tebaldi, T., Lauria, F., Bernabo, P., Gómez-Biagi, R., Perenthaler, E., Gubert, D., Pasquardini, L., Guella, G., Groen, E.J.N., Gillingwater, T.H., Quattrone, A. & Viero, G. (2018) Active ribosome profiling with RiboLace. Cell Reports 25: 1097-1108.

  • Pickett, E.K., Rose, J., McCrory, C., MacKenzie, C-A., King, D., Smith, C., Gillingwater, T.H.,Henstridge, C.M. & Spires-Jones, T.L. (2018) Region-specific depletion of synaptic mitochondria in the brains of patients with Alzheimer’s disease. Acta Neuropathologica 136: 747-757.

  • Chaytow, H., Huang, Y-T., Gillingwater, T.H.* & Faller, K.M.E. (2018) The role of survival motor neuron protein (SMN) in protein homeostasis. Cellular & Molecular Life Sciences 75: 3877-3894. *Corresponding Author

  • Groen, E.J.N., Perenthaler, E., Courtney, N.L., Jordan, C.Y., Shorrock, H.K., van der Hoorn, D., Huang, Y-T., Murray, L.M., Viero, G. & Gillingwater, T.H. (2018) Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy. Human Molecular Genetics 27: 2851-2862.

  • Groen, E.J.N., Talbot, K. & Gillingwater, T.H. (2018) Advances in therapy for spinal muscular atrophy: promises and challenges. Nature Reviews Neurology 14: 214-224.

  • Henstridge, C.M., Sideris, D.I., Carroll, E., Rotariu, S., Salomonsson, S., Tzioras, M., MacKenzie, C-A., Smith, C., von Armin, C.A.F., Ludolph, A.C., Lule, D., Leighton, D., Warner, J., Cleary, E., Newton, J., Swingler, R., Chandran, S., Gillingwater, T.H., Abrahams, S. & Spires-Jones, T.L. (2018) Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis. Acta Neuropathologica 135: 213-226.

  • Jones, R.A., Harrison, C., Eaton, S.L., Llavero Hurtado, M., Graham, L.C., Alkhammash, L., Oladiran, O.A., Gale, A., Lamont, D.J., Simpson, H., Simmen, M.W., Soeller, C., Wishart, T.M. & Gillingwater, T.H. (2017) Cellular and molecular anatomy of the human neuromuscular junction. Cell Reports 21:2348-2356.

  • 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 27: 3396-3402.

  • 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.

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

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

  • 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. JCI 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • de Waard, M.C., van der Pluijm, I., Zuiderveen Borgesius, N., Comley, L.H., Haasdijk, E.D., Rijksen, Y., Ridwan, Y., Zondag, G., Hoeijmakers, J.H., Elgersma, Y., Gillingwater, T.H. & Jaarsma, D. (2010) Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice. Acta Neuropathologica 120:461-475.

  • Bäumer, D., Lee, S., Nicholson, G., Davies, J.L., Parkinson, N.J., Murray, L.M., Gillingwater, T.H.,Ansorge, O., Davies, K.E. & Talbot, K. (2009) Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genetics 5: e1000773.

  • Murray, L.M., Comley, L.H., Thomson, D., Parkinson, N., Talbot, K. & Gillingwater, T.H. (2008) Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Human Molecular Genetics 17: 949-962.

  • Wishart, T.M., Pemberton, H.N., James, S.R., McCabe, C.J. & Gillingwater, T.H. (2008) Modified cell cycle status in a mouse model of altered neuronal vulnerability (Wallerian Degeneration Slow; Wlds). Genome Biology 9(6): R101.

  • Gillingwater, T.H., Ingham, C.A., Parry, K.E., Wright, A.K., Haley, J.E., Wishart, T.M., Arbuthnott, G.W. & Ribchester, R.R. (2006) Delayed synaptic degeneration in the CNS of Wlds mice after cortical lesion. Brain 129: 1546-1556.

  • Nishimura, A.L., Mitne-Neto, M., Silva, H.C.A., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J.R.M., Gillingwater, T., Webb, J., Skehel, P. & Zatz, M. (2004) A mutation in the vesicle trafficking protein VAP-B causes late onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics 75: 822-831.

  • Mack. T.G.A., Reiner, M., Beirowski, B., Mi, W., Emanuelli, M., Wagner, D., Thomson, D., Gillingwater, T., Court, F., Conforti, L., Shama Fernando, F., Tarlton, A., Andressen, C., Addicks, K., Magni, G., Ribchester, R.R., Perry, V.H. & Coleman, M.P. (2001) Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene. Nature Neuroscience 4: 1199-1206.

Information for students:

Willingness to discuss research projects with undergraduate and postgraduate students: YES - please click here

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