Structure and Function of the Human Neuromuscular Junction
- Graduated in Medicine from the University of St Andrews/University of Manchester in 2005
- Trained in General Surgery in North Western Deanery (from 2007 to 2017) with rotations in Intensive Care Medicine, Urology, Vascular, Breast, Upper GI and Colorectal Surgery
- Undertook out-of-programme research in Human Anatomy at the University of Edinburgh (MSc 2012; PhD 2017)
- Appointed to Lecturer in Clinical & Surgical Anatomy in October 2017
- PhD (Human Anatomy), The University of Edinburgh, 2017
- MSc (Human Anatomy), The University of Edinburgh, 2012
- MRCS (Eng), The Royal College of Surgeons of England, 2008
- MBChB, The University of Manchester, 2005
- BSc (Medical Sciences), University of St Andrews, 2002
All aspects of human and comparative neuromuscular junction (NMJ) structure and function, involving close collaboration with the Gillingwater laboratory. This research will help to inform the translation of animal models of neurodegenerative diseases (e.g. motor neurone disease) to the human condition.
Co-ordination of tissue harvesting programme with the Departments of Vascular and Orthopaedic Surgery at the Royal Infirmary of Edinburgh.
- Ines Boehm (co-supervision with Gillingwater lab)
- Thomas Gillingwater, Edinburgh Medical School
- Thomas Wishart, Roslin Institute
- Martin Simmen, Biomedical Sciences
- Richard Ribchester, Euan MacDonald Centre
- Hamish Simpson, Department of Orthopaedic Surgery
- Roderick Chalmers, Department of Vascular Surgery
- Richard Skipworth, Department of Upper GI Surgery
- Philippa Rust, Department of Orthopaedic Surgery
Scott Pirie, The Royal (Dick) School
- Eddie Clutton, The Royal (Dick) School
- University of Exeter - Christian Soeller, Physics and Astronomy
Jones RA, Harrison C, Eaton SL, Hurtado ML, Graham LC, Alkhammash L, Oladiran OA, Gale A, Lamont DJ, Simpson H, Simmen MW, Soeller C, Wishart TM, Gillingwater TH. Cellular and Molecular Anatomy of the Human Neuromuscular Junction. Cell Reports. 21, 2348-2356 (2017). Open access online.
Jones RA, Mortimer JW. Anatomy for Surgeons. In: Fisher R, Ahmed K, Dasgupta P (eds) Introduction to Surgery for Students. Springer, pp. 17-29 (2017). Online.
Herranz-Martin S, Chandran J, Lewis K, Mulcahy P, Higginbottom A, Walker C, Martinez-Pena y Valenzuela I, Jones RA, Coldicott I, Azzouz M et al. Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioral deficits. Disease Models & Mechanisms. 10, 859-868 (2017).
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Mill P et al. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. The American Journal of Human Genetics. 100, 706-724 (2017).
Jones RA, Reich CD, Dissanayake KN, Kristmundsdottir F, Findlater GS, Ribchester RR, Simmen MW, Gillingwater TH. NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction. Open Biology. 6, 160240 (2016). Open access online.
Jones RA, Gillingwater TH. NMJ-morph [interactive resource]. University of Edinburgh. Centre for Integrative Physiology. Doi: 10.7488/ds/1490 (2016). Online.
Ross PD, Guy J, Selfridge J, Kamal B, Bahey N, Tanner KE, Gillingwater TH, Jones RA, Loughrey CM, McCarroll CS, Bailey MES, Bird A, Cobb S. Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes. Human Molecular Genetics. 25, 4389-4404 (2016).
Powis RA, Karyka E, Boyd P, Côme J, Jones RA, Zheng Y, Szunyogova E, Groen EJN, Hunter G, Thomson D, Wishart TM, Becker CG, Parson SH, Martinat C, Azzouz M, Gillingwater TH. Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI Insight. 1, 87908 (2016).
Hunter G, Powis RA, Jones RA, Groen EJN, Shorrock HK, Lane FM, Zheng Y, Sherman DL, Brophy PJ, Gillingwater TH. Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy. Human Molecular Genetics. 25, 2853-2861 (2016).
Atkin WS et al. (collaborator: Jones RA). Once-only flexible sigmoidoscopy screening in prevention of colorectal cancer: a multicentre randomised controlled trial. The Lancet. 375, 1624-1633 (2010).