Professor Tom Gillingwater

Professor of Anatomy

Professor Tom Gillingwater

Professor of Anatomy

  • University of Edinburgh

Contact details

Address

Old Medical School
Teviot Place
EH8 9AG

Other affiliations

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), Royal Society of Biology (FRSB), and Royal Microscopical Society (FRMS), and an Honorary Fellow of the Anatomical Society (HonFAS).

Tom leads an active research team that has published more than 180 papers in a variety of leading international journals, including; Journal of Clinical Investigation, The Lancet, Nature Cell Biology, Neuron, Nature Reviews Neurology, Cell Reports, eBioMedicine, Cell Reports Medicine, Nature Communications, Nature Neuroscience, Brain, Genome Biology, Annals of Neurology, Current Biology, and American Journal of Human Genetics. 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 was Editor-in-Chief at the Journal of Anatomy from 2011 to 2022 and has been 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 Glasgow, University of Oxford, RCSI, UCL 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 was previously Course Director for Anatomy & Pathology 2 (BSc Medical Sciences) and is currently 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 Neuron 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.

 

  • James, R., Faller, K.M.E., Groen, E.J.N., Wirth, B. & Gillingwater, T.H. (2024) Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy. Communications Medicine 4: 86.

  • Smith, H.L., Chaytow, H. & Gillingwater, T.H. (2024) Excitotoxicity and ALS: new therapy targets an old mechanism. Cell Reports Medicine 20: 101423.

  • Huang, Y.T., Crick, H.R., Chaytow, H., van der Hoorn, D., Alhindi, A., Jones, R.A., Hector, R.D., Cobb, S.R. & Gillingwater, T.H. (2023) Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7. Molecular Therapy Nucleic Acids 33: 617-628.

  • Alhindi, A., Shand, M., Smith, H.L., Leite, A.S., Huang, Y.T., van der Hoorn, D., Ridgway, Z., Faller, K.M.E., Jones, R.A., Gillingwater, T.H.* & Chaytow, H*. (2023) Neuromuscular junction denervation and terminal Schwann cell loss in the hTDP-43 overexpression mouse model of amyotrophic lateral sclerosis (ALS). Neuropathology & Applied Neurobiology 19: e12925. *Joint senior authors

  • Zhou, H., Hong, Y., Scoto, M., Thomson, A., Pead, E., MacGillivray, T., Hernandez-Gerez, E., Catapano, F., Meng, J., Zhang, Q., Hunter, G., Shorrock, H.K., Ng, T., Hamida, A.,  Sanson, M., Baranello, G., Howell, K., Gillingwater, T.H., Brogan, P., Thompson, D.A., Parson, S.H. & Muntoni, F. (2022) Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect. Journal of Clinical Investigation 132: e153430.

  • Motyl, A.A.L. & Gillingwater, T.H. (2022) Timing is everything: Clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy. Cell Reports Medicine 3: 100725.

  • Chaytow, H., Carroll, E., Gordon, D., Huang, Y-T., van der Hoorn, D., Smith, H.L., Becker, T., Becker, C.G., Faller, K.M.E., Talbot, K. & Gillingwater, T.H. (2022) Targeting phosphoglycerate kinase 1 with terazosin improves motor neuron phenotypes in multiple models of amyotrophic lateral sclerosis. eBioMedicine 83: 104202.

  • Bauer, C.S., Cohen, R.N., Sironi, F., Livesey, M.R., Gillingwater, T.H., Highley, J.R., Fillingham, D.J., Coldicott, I., Smith, E.F., Gibson, Y.B., Webster, C.P., Grierson, A.J., Bendotti, C. & De Vos, K.J. (2022) An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD. Acta Neuropathologica 144: 437-464.

  • Gillingwater, T.H., McWilliam, C., Horrocks, I., McWilliam, K., Hamilton, M., Fletcher, E., Williams, N., Smith, S. & Parson, S.H. (2022) A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland. Scottish Medical Journal 67: 46-47.

  • Ledahawsky, L.M., Terzenidou, M.E., Edwards, R., Kline, R.A., Graham, L.C., Eaton, S.L., van der Hoorn, D., Chaytow, H., Huang, Y.T., Groen, E.J.N., Motyl, A.A.L., Lamont D.J., Tokatlidis, K., Wishart, T.M. & Gillingwater, T.H. (2022) The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo. FEBS Journal 289: 3894-3914.

  • Del Piano, A., Kecman, T., Schmid, M., Barbieri, R., Brocchieri, L., Tornaletti, S., Firrito, C., Minati, L., Bernabo, P., Signoria, I., Lauria, F., Gillingwater, T.H., Viero, G. & Clamer, M. (2022) Phospho-RNA sequencing with circAID-p-seq. Nucleic Acids Research 50: e23.

  • Jones, R.A., Mortimer, J.W., Thompson, C.S.G., Clark-Stewart, S., Hogg, G., Keni, S., McCulloch, V., Alashkham, A., Dhumale, S., Maclean, S.J., Vella, M., Findlater, G.S., Sinclair, D.W., Yalamarthi, S. & Gillingwater, T.H. (2021) Improving surgical training: Establishing a surgical anatomy programme in Scotland. International Journal of Surgery 96: 106172.

  • 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. 

  • 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., 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.

  • 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.

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

  • 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.

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

  • 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.

  • 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.

  • 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.

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