Professor Janine Kirby

PhD

School of Medicine and Population Health

School Director of Education

Professor in Neurogenetics

Professor Janine Kirby
Profile picture of Professor Janine Kirby
j.kirby@sheffield.ac.uk
+44 114 222 2247
Room B47, Sheffield Institute for Translational Neuroscience (SITraN)

Full contact details

Professor Janine Kirby
School of Medicine and Population Health
Room B47
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
Sheffield
S10 2HQ
Profile

I first came to the University of Sheffield as an undergraduate, graduating with a BSc in Genetics, having been awarded a First Class Honours and the Alan Roper (Panlabs) Prize for Genetics. I obtained my PhD in Genetics from University College London, having studied at the MRC Human Biochemical Genetics Unit.

I subsequently joined the Motor Neurone Disease (MND) Research Group at the University of Newcastle-upon-Tyne, headed by Prof Pamela Shaw. During the intervening years, first at Newcastle and now at the University of Sheffield, my research has focused on the genetic and transcriptomic analysis of MND, to understand the molecular basis of this complex disorder and identify prognostic and diagnostic biomarkers.

I was awarded a New Blood Lectureship in the Academic Neurology Unit and I am now Professor of Neurogenetics, based in SITraN. I am currently Co-course Lead for MSc Advanced Cell and Gene Therapies. I also serve on University Senate and University Council.

Research interests

My research interests are the genetics of MND and how gene expression profiling can be used to investigate the pathogenic mechanisms of neurodegeneration and to identify diagnostic and prognostic biomarkers. MND is genetically heterogeneous, with over 30 genes identified for the most common form of the disease, amyotrophic lateral sclerosis (ALS), which in some patients can also be associated with frontotemporal dementia (FTD). The use of next generation sequencing, both whole exome and whole genome sequencing has significantly increased the identification of new genes.  Since individuals with known genetic variants of MND are generally indistinguishable from sporadic patients in the clinical setting, the disease is thought to progress along common pathways which result in the death of the motor neurones. Therefore, by understanding the pathogenic mechanisms in the genetic variants of the disease, it is hoped that the results will be widely applicable to other cases where the cause is currently unknown. My research therefore focuses on obtaining gene expression profiles from experimental disease models and from patient and control samples, in order to both elucidate the reasons why the motor neurones are dying and to identify useful biomarkers of ALS. More recently, as part of a large clinical trial, I am assessing the impact of therapeutic treatments on the blood transcriptome to help understand the mechanisms of action of low dose interleukin-2.

I am also expanding into the rapidly evolving field of Advanced Therapies. I co-lead a work-package within the ARDAT consortium () focusing on biobanking, with the aim of understanding pre-existing immunity and adaptive immune responses. I also lead on Skills and Training at the Sheffield Hub, one of three Innovation Hubs for Gene Therapies (IHfGT) ().

Publications

Journal articles

  • Bensimon G, Leigh PN, Tree T, Malaspina A, Payan CAM, Pham H-P, Klaassen P, Shaw PJ, Al Khleifat A, Amador MDM , Attarian S et al (2025) . The Lancet, 405(10492), 1837-1850.
  • Demaegd KC, Kernan A, Cooper-Knock J, van Vugt JJFA, Harvey C, Moll T, O’Brien D, Gornall S, Drury L, Farhan SMK , Dion PA et al (2025) . European Journal of Human Genetics, 33(9), 1106-1112.
  • Marín-Márquez C, Adisa AO, Niklander SE, Kirby J & Hunter KD (2025) . Modern Pathology, 38(3).
  • Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR , Jones A et al (2024) . Cell Genomics, 4(11).
  • Vrellaku B, Sethw Hassan I, Howitt R, Webster CP, Harriss E, McBlane F, Betts C, Schettini J, Lion M, Mindur JE , Duerr M et al (2024) . Molecular Therapy, 32(10), 3220-3259.
  • Alarcan H, Bruno C, Emond P, Raoul C, Vourc'h P, Corcia P, Camu W, Veyrune J, Garlanda C, Locati M , Juntas‐Morales R et al (2024) . Annals of the New York Academy of Sciences, 1536(1), 82-91.
  • Marín‐Márquez C, Kirby J & Hunter KD (2024) . Journal of Oral Pathology & Medicine, 53(5), 277-293.
  • Waller R, Bury JJ, Appleby-Mallinder C, Wyles M, Loxley G, Babel A, Shekari S, Kazoka M, Wollff H, Al-Chalabi A , Heath PR et al (2024) . Brain Communications, 6(1).
  • Allen SP, Al Sultan A, Kabucho Kibirige E, Tonkiss E, Hamer KJ, Castelli LM, Lin Y-H, Roscoe S, Stefanidis N, Mead RJ , Highley JR et al (2023) . Frontiers in Aging Neuroscience, 15.
  • Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H , Talkowski M et al (2023) . Cell Genomics, 3(6), 100316-100316.
  • Giovannelli I, Higginbottom A, Kirby J, Azzouz M & Shaw PJ (2023) . Nature Reviews Neurology, 19(1), 39-52.
  • Cooper‐Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T , Shelkovnikova T et al (2023) . Brain Pathology, 33(1).
  • Jiménez-Villegas J, Kirby J, Mata A, Cadenas S, Turner MR, Malaspina A, Shaw PJ, Cuadrado A & Rojo AI (2022) . Antioxidants, 11(10).
  • Thompson AG, Gray E, Verber N, Bobeva Y, Lombardi V, Shepheard SR, Yildiz O, Feneberg E, Farrimond L, Dharmadasa T , Gray P et al (2022) . Brain Communications, 4(1).
  • Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR , Cookson MR et al (2021) . JAMA Neurology, 78(10), 1236-1248.
  • Giovannelli I, Bayatti N, Brown A, Wang D, Mickunas M, Camu W, Veyrune J-L, Payan C, Garlanda C, Locati M , Juntas-Morales R et al (2021) . Brain Communications, 3(3).
  • Shepheard SR, Parker MD, Cooper-Knock J, Verber NS, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars ESA, Turner MR , Malaspina A et al (2021) . Journal of Neurology, Neurosurgery & Psychiatry, 92(5), 510-518.
  • Appleby‐Mallinder C, Schaber E, Kirby J, Shaw PJ, Cooper‐Knock J, Heath PR & Highley JR (2021) . Neuropathology and Applied Neurobiology, 47(1), 61-72.
  • Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C , Hornstein E et al (2021) . Cell Rep, 34(5), 108730.
  • Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A , Ibáñez K et al (2021) . Neuron, 109(3), 448-460.e4.
  • De Marco M, Manca R, Kirby J, Hautbergue G, Blackburn DJ, Wharton S & Venneri A (2020) . Alzheimer's & Dementia, 16(S4).
  • Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C , Hornstein E et al (2020) . Cell Reports, 33(9).
  • De Marco M, Manca R, Kirby J, Hautbergue GM, Blackburn DJ, Wharton SB, Venneri A & Alzheimer’s Disease Neuroimaging Initiative (2020) . Current Alzheimer Research, 17(7), 667-679.
  • Camu W, Mickunas M, Veyrune J-L, Payan C, Garlanda C, Locati M, Juntas-Morales R, Pageot N, Malaspina A, Andreasson U , Kirby J et al (2020) . EBioMedicine, 59.
  • Giovannelli I, Heath P, Shaw PJ & Kirby J (2020) . Amyotrophic lateral sclerosis & frontotemporal degeneration, 21(5-6), 435-444.
  • Ranganathan R, Haque S, Coley K, Shepheard S, Cooper-Knock J & Kirby J (2020) . Frontiers in Neuroscience, 14.
  • Lorente Pons A, Higginbottom A, Cooper‐Knock J, Alrafiah A, Alofi E, Kirby J, Shaw PJ, Wood JD & Highley JR (2020) . The Journal of Pathology, 251(3), 262-271.
  • Weinreich M, Shepheard S, Verber N, Wyles M, Heath PR, Highley JR, Kirby J & Shaw PJ (2020) . Neuropathology & Applied Neurobiology, 46(3), 279-291.
  • Bandres‐Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G, Arosio A, Barberis M, Bartolomei I, Battistini S , Benigni M et al (2019) . Annals of Neurology, 85(4), 470-481.
  • Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M , Robberecht W et al (2019) . Cell Reports, 26(9), 2298-2306.e5.
  • Gkazi SA, Troakes C, Topp S, Miller JW, Vance CA, Sreedharan J, Al-Chalabi A, Kirby J, Shaw PJ, Al-Sarraj S , King A et al (2019) . Neurobiology of Aging, 73, 229.e5-229.e9.
  • de Majo M, Topp SD, Smith BN, Nishimura AL, Chen H-J, Gkazi AS, Miller J, Wong CH, Vance C, Baas F , Ten Asbroek ALMA et al (2018) . Neurobiology of Aging, 71, 266.e1-266.e10.
  • Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P , Rivera AM et al (2018) . Neuron, 97(6), 1268-1283.e6.
  • Waller R, Wyles M, Heath PR, Kazoka M, Wollff H, Shaw P & Kirby J (2018) . Frontiers in Neuroscience, 11.
  • Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath. PR, Higginbottom A, Walsh T, Kazoka M, Project MinE ALS Sequencing Consortium , Ince PG , Hautbergue GM et al (2017) . Frontiers in Molecular Neuroscience, 10.
  • Hautbergue GM, Castelli LM, Ferraiuolo L, Sanchez-Martinez A, Cooper-Knock J, Higginbottom A, Lin YH, Bauer CS, Dodd JE, Myszczynska MA , Alam SM et al (2017) . Nature Communications, 8.
  • Waller R, Goodall EF, Milo M, Cooper-Knock J, Da Costa M, Hobson E, Kazoka M, Wollff H, Heath PR, Shaw P & Kirby J (2017) . Neurobiology of Aging, 55, 123-131.
  • Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A , Miller JW et al (2017) . Science Translational Medicine, 9(388).
  • Cooper-Knock J, Green C, Altschuler G, Wei W, Bury JJ, Heath PR, Wyles M, Gelsthorpe C, Highley JR, Lorente-Pons A , Beck T et al (2017) . Acta Neuropathologica Communications, 5.
  • Stopford MJ, Higginbottom A, Hautbergue GM, Cooper-Knock J, Mulcahy PJ, De Vos KJ, Renton AE, Pliner H, Calvo A, Chio A , Traynor BJ et al (2017) . Human Molecular Genetics, 26(6), 1133-1145.
  • Gaastra B, Shatunov A, Pulit S, Jones AR, Sproviero W, Gillett A, Chen Z, Kirby J, Fogh I, Powell JF , Leigh PN et al (2016) . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(7-8), 593-599.
  • Al Sultan A, Waller R, Heath P & Kirby J (2016) . Degenerative Neurological and Neuromuscular Disease, 2016(6), 49-64.
  • Bury JJ, Highley JR, Cooper-Knock J, Goodall EF, Higginbottom A, McDermott CJ, Ince PG, Shaw PJ & Kirby J (2016) . Neuropathology , 36(2), 125-134.
  • Oeckl P, Jardel C, Salachas F, Lamari F, Andersen PM, Bowser R, de Carvalho M, Costa J, van Damme P, Gray E , Grosskreutz J et al (2016) . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-10.
  • Highley JR, Lorente Pons A, Cooper-Knock J, Wharton SB, Ince PG, Shaw PJ, Wood J & Kirby J (2015) . Neuropathology and Applied Neurobiology.
  • Baker DJ, Blackburn DJ, Keatinge M, Sokhi D, Viskaitis P, Heath PR, Ferraiuolo L, Kirby J & Shaw PJ (2015) . Frontiers in Cellular Neuroscience, 9.
  • Wong CH, Topp S, Gkazi AS, Troakes C, Miller JW, de Majo M, Kirby J, Shaw PJ, Morrison KE, de Belleroche J , Vance CA et al (2015) . Neurobiology of Aging , 36(10), 2908.e17-2908.e18.
  • Cooper-Knock J, Higginbottom A, Stopford MJ, Highley JR, Ince PG, Wharton SB, Pickering-Brown S, Kirby J, Hautbergue GM & Shaw PJ (2015) . Acta Neuropathologica, 130(1), 63-75.
  • Cooper-Knock J, Bury JJ, Heath PR, Wyles M, Higginbottom A, Gelsthorpe C, Highley JR, Hautbergue G, Rattray M, Kirby J & Shaw PJ (2015) . PLoS One, 10(5).
  • Jones AR, Troakes C, King A, Sahni V, De Jong S, Bossers K, Papouli E, Mirza M, Al-Sarraj S, Shaw CE , Shaw PJ et al (2015) . Neurobiology of Aging, 36(5), 2006.e1-2006.e9.
  • Cooper-Knock J, Kirby J, Highley R & Shaw PJ (2015) . Neurotherapeutics, 12(2), 326-339.
  • Walsh MJ, Cooper-Knock J, Dodd JE, Stopford MJ, Mihaylov SR, Kirby J, Shaw PJ & Hautbergue GM (2015) . Neuropathology and Applied Neurobiology, 41(2), 109-134.
  • Raman R, Allen SP, Goodall EF, Kramer S, Ponger L-L, Heath PR, Milo M, Hollinger HC, Walsh T, Highley JR , Olpin S et al (2015) . Neuropathol Appl Neurobiol, 41(2), 201-226.
  • Beer AM, Cooper-Knock J, Higginbottom A, Highley JR, Wharton SB, Ince PG, Milano A, Jones AA, Al-Chalabi A, Kirby J & Shaw PJ (2014) . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(3-4), 249-251.
  • Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J , McDermott CJ et al (2014) . Neuropathol Appl Neurobiol, 40(6), 670-685.
  • Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J , Hautbergue GM et al (2014) . Brain, 137(Pt 7), 2040-2051.
  • Cooper-Knock J, Walsh M, Higginbottom A, Highley JR, Bury J, Dickman M, Rattray M, Heath P, Wyles M, Ince P , Wharton S et al (2014) . Neurology, 82(10_supplement).
  • Cooper-Knock J, Walsh M, Higginbottom A, Highley JR, Bury J, Dickman M, Rattray M, Heath P, Wyles M, Ince P , Wharton S et al (2014) . Neurology, 82(10_supplement).
  • Highley JR, Gebril OH, Simpson JE, Wharton SB, Kirby J, O'Brien JT, Barber R, Kalaria RN, Brayne C, Lewis CE , Shaw PJ et al (2014) . Journal of Aging Science, 2(1).
  • Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B , Rohrer JD et al (2014) . Acta Neuropathol, 127(3), 407-418.
  • Lehnert S, Costa J, de Carvalho M, Kirby J, Kuzma-Kozakiewicz M, Morelli C, Robberecht W, Shaw P, Silani V, Steinacker P , Tumani H et al (2014) . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 15(5-6), 344-350.
  • Cooper-Knock J, Shaw PJ & Kirby J (2014) . Acta Neuropathol, 127(3), 333-345.
  • Bayatti N, Cooper-Knock J, Bury JJ, Wyles M, Heath PR, Kirby J & Shaw PJ (2014) . PLoS One, 9(1), e87508.
  • Heath PR, Kirby J & Shaw PJ (2013) . Front Cell Neurosci, 7, 259.
  • Goodall EF, Heath PR, Bandmann O, Kirby J & Shaw PJ (2013) . Front Cell Neurosci, 7, 178.
  • Cooper-Knock J, Higginbottom A, Connor-Robson N, Bayatti N, Bury JJ, Kirby J, Ninkina N, Buchman VL & Shaw PJ (2013) . Neurology, 81(19), 1719-1721.
  • Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T , Revesz T et al (2013) . Neurology, 81(9), 808-811.
  • Kirby J, Highley JR, Cox L, Goodall EF, Hewitt C, Hartley JA, Hollinger HC, Fox M, Ince PG, McDermott CJ & Shaw PJ (2013) . Neuropathol Appl Neurobiol, 39(5), 562-571.
  • Groen EJN, Fumoto K, Blokhuis AM, Engelen-Lee JY, Zhou Y, van den Heuvel DMA, Koppers M, van Diggelen F, van Heest J, Demmers JAA , Kirby J et al (2013) . Human Molecular Genetics, 22(18), 3690-3704.
  • Mead RJ, Higginbottom A, Allen SP, Kirby J, Bennett E, Barber SC, Heath PR, Coluccia A, Patel N, Gardner I , Brancale A et al (2013) . Free Radic Biol Med, 61, 438-452.
  • Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, Ninkina N & Shaw PJ (2013) . Mol Neurodegener, 8, 12.
  • Brockington A, Ning K, Heath PR, Wood E, Kirby J, Fusi N, Lawrence N, Wharton SB, Ince PG & Shaw PJ (2013) . Acta Neuropathol, 125(1), 95-109.
  • Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, Lowe J, Scott I, Constantinescu CS, Walters SJ , Price S et al (2013) . J Neurol Neurosurg Psychiatry, 84(1), 79-87.
  • Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM , Jones A et al (2013) . Eur J Hum Genet, 21(1), 102-108.
  • Cooper-Knock J, Kirby J, Ferraiuolo L, Heath PR, Rattray M & Shaw PJ (2012) . Nat Rev Neurol, 8(9), 518-530.
  • Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J , van Swieten JC et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. The Lancet Neurology, 11(4), 323-330.
  • Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J , van Swieten JC et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet Neurology.
  • Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C , Baxter L et al (2012) . Brain, 135(Pt 3), 751-764.
  • Ince PG, Highley JR, Kirby J, Wharton SB, Takahashi H, Strong MJ & Shaw PJ (2011) . Acta Neuropathol, 122(6), 657-671.
  • Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M & Shaw PJ (2011) . Nat Rev Neurol, 7(11), 616-630.
  • Gebril OH, Simpson JE, Kirby J, Brayne C & Ince PG (2011) . Neuromolecular Medicine, 13(4), 289-299.
  • Ferraiuolo L, Higginbottom A, Heath PR, Barber S, Greenald D, Kirby J & Shaw PJ (2011) . Brain, 134(Pt 9), 2627-2641.
  • Gebril OH, Kirby J, Savva G, Brayne C & Ince PG (2011) . J NEUROGENET, 25(1-2), 7-14.
  • Kirby J, Ning K, Ferraiuolo L, Heath PR, Ismail A, Kuo S-W, Valori CF, Cox L, Sharrack B, Wharton SB , Ince PG et al (2011) . Brain, 134(Pt 2), 506-517.
  • Gebril OH, Simpson JE, Kirby J, Brayne C & Ince PG (2011) Brain Iron Dysregulation and the Risk of Ageing White Matter Lesions. NeuroMolecular Medicine, 1-11.
  • Highley JR, Kirby J, Heath P, Jansweijer JA, Milo M, Ince PG & Shaw PJ (2010) TARDBP mutations, amyotrophic lateral sclerosis and alternative splicing in human fibroblasts. BRAIN PATHOLOGY, 20, 32-32.
  • Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ & Shaw PJ (2010) . Arch Neurol, 67(4), 455-461.
  • Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE , Morrison KE et al (2010) . PLoS One, 5(3), e9872.
  • Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE , Ince PG et al (2010) . Neurogenetics, 11(2), 217-225.
  • Ferraiuolo L, De Bono JP, Heath PR, Holden H, Kasher P, Channon KM, Kirby J & Shaw PJ (2009) . J Neurochem, 109(6), 1714-1724.
  • Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y & Shaw P (2009) . Neurogenetics, 10(2), 105-110.
  • Hewamadduma CAA, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott CJ & Shaw PJ (2008) . Neurology, 70(19), 1717-1718.
  • Ferraiuolo L, Heath PR, Holden H, Kasher P, Kirby J & Shaw PJ (2007) . J Neurosci, 27(34), 9201-9219.
  • Kirby J, Heath PR, Shaw PJ & Hamdy FC (2007) . Adv Clin Chem, 44, 247-292.
  • Kirby J, Hewamadduma CAA, Hartley JA, Nixon HC, Evans H, Wadhwa RR, Kershaw C, Ince PG & Shaw PJ (2007) . Neurology, 68(22), 1951-1953.
  • Mackenzie IRA, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H , Eisen A et al (2007) . Ann Neurol, 61(5), 427-434.
  • McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A , Shaw PJ et al (2006) . Neurology, 67(1), 45-51.
  • Wood-Allum CA, Barber SC, Kirby J, Heath P, Holden H, Mead R, Higginbottom A, Allen S, Beaujeux T, Alexson SE , Ince PG et al (2006) . Brain, 129(Pt 7), 1693-1709.
  • Kirby J, Halligan E, Baptista MJ, Allen S, Heath PR, Holden H, Barber SC, Loynes CA, Wood-Allum CA, Lunec J & Shaw PJ (2005) . Brain, 128(Pt 7), 1686-1706.
  • Brockington A, Kirby J, Eggitt D, Schofield E, Morris C, Lewis CE, Ince PG & Shaw PJ (2005) . NEUROGENETICS, 6(2), 101-104.
  • Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A , Proukakis C et al (2003) No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders. AMYOTROPH LATERAL SC, 4(3), 150-157.
  • McDermott CJ, Roberts D, Tomkins J, Bushby KM & Shaw PJ (2003) . Amyotroph Lateral Scler Other Motor Neuron Disord, 4(2), 96-99.
  • Allen S, Heath PR, Kirby J, Wharton SB, Cookson MR, Menzies FM, Banks RE & Shaw PJ (2003) . J Biol Chem, 278(8), 6371-6383.
  • Menzies FM, Grierson AJ, Cookson MR, Heath PR, Tomkins J, Figlewicz DA, Ince PG & Shaw PJ (2002) . J Neurochem, 82(5), 1118-1128.
  • Heath PR, Tomkins J, Ince PG & Shaw PJ (2002) . Neuroreport, 13(14), 1753-1757.
  • Kirby J, Menzies FM, Cookson MR, Bushby K & Shaw PJ (2002) . Hum Mol Genet, 11(17), 2061-2075.
  • Tomkins J, Banner SJ, McDermott CJ & Shaw PJ (2001) . Neuroreport, 12(11), 2319-2322.
  • McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K & Shaw PJ (2001) . Neurology, 56(4), 467-471.
  • Tomkins J, Dempster S, Banner SJ, Cookson MR & Shaw PJ (2000) . Neuroreport, 11(8), 1695-1697.
  • Menzies FM, Cookson MR, Manning P, Eggett CJ, Tomkins J, Illingworth J, Dong L, Figlewicz DA, McNeill CJ & Shaw PJ (2000) Mechanisms leading to cell death associated with mutations in Cu/Zn superoxide dismutase (SOD1): Insights from cellular models. EUR J NEUROSCI, 12, 226-226.
  • Tomkins J, Usher P, Slade JY, Ince PG, Curtis A, Bushby K & Shaw PJ (1998) . Neuroreport, 9(17), 3967-3970.
  • Ince PG, Tomkins J, Slade JY, Thatcher NM & Shaw PJ (1998) . J Neuropathol Exp Neurol, 57(10), 895-904.
  • Whitehouse DB, Tomkins J, Lovegrove JU, Hopkinson DA & McMillan WO (1998) . Molecular Biology and Evolution, 15(4), 456-462.
  • Shaw PJ, Thagesen H, Tomkins J, Slade JY, Usher P, Jackson A, Curtis A, Bushby K & Ince PG (1998) . Neurology, 51(1), 252-255.
  • TOMKINS J, FOX M, LOVEGROVE JU, PARRINGTON J, HOPKINSON DA & WHITEHOUSE DB (1997) . Annals of Human Genetics, 61(2), 99-108.
  • Shaw PJ, Tomkins J, Slade JY, Usher P, Curtis A, Bushby K & Ince PG (1997) . Neuroreport, 8(18), 3923-3927.
  • Tomkins J, Ince PG, Jackson T, Slade JY, Usher P, Curtis A, Bushby K & Shaw PJ (1997) Mutation analysis in CNS tissue from motor neurone disease (MND) patients. J MED GENET, 34, 1422-1422.
  • TOMKINS J, FOX M, LOVEGROVE JU, PARRINGTON J, HOPKINSON DA & WHITEHOUSE DB (1997) . Annals of Human Genetics, 61(2), 99-108.
  • Tomkins J (1996) Molecular and evolutionary investigation of the phosphoglucomutase gene family.

Book chapters

  • (2024) , International Review of Neurobiology (pp. 209-268). Elsevier
  • (2024) , International Review of Neurobiology (pp. xix-xx). Elsevier
  • Shaw PJ & Kirby J (2024) , MOTOR NEURONE DISEASE (pp. XIX-XX).
  • Lynch MA, Hardiman O, Elamin M, Kirby J & Rowland LP (2016) , Neurodegenerative Disorders (pp. 1-12). Springer International Publishing
  • Cooper-Knock J, J. J, Ferraiuolo L, F. E, J. P & Kirby J () , Amyotrophic Lateral Sclerosis InTech
  • F. E, J. J, Cooper-Knock J, J. P & Kirby J () , Amyotrophic Lateral Sclerosis InTech

Conference proceedings

  • Bensimon G, Camu W, Payan C, Tree T, Veyrune J-L, Malaspina A, Garlanda C, Locati M, Saker S, Juntas-Morales R , Pageot N et al (2017) . Neurology, Vol. 88(16_supplement)
  • Pons AL, Shaw PJ, Ince PG, Cooper-Knock J, Ramachandran A, Kirby J, Highley JR & Wood JD (2016) . Journal of Pathology, Vol. 240 (pp S13-S13). Nottingham, UK
  • Lorente-Pons A, Wood JD, Shaw PJ, Ince PG, Cooper-Knock J, Ramachandran A, Kirby J & Highley JR (2016) . NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 42(S1) (pp 28-28), 2 March 2016 - 4 March 2016.
  • Lorente-Pons A, Wood JD, Shaw PJ, Ince PG, Cooper-Knock J, Ramachandran A, Kirby J & Highley JR (2015) Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 41 (pp 26-27)
  • Beer A, Cooper-Knock J, Higginbottom A, Robin Highley J, Wharton SP, Milano A, Jones A, Al-Chalabi A, Kirby J & Shaw PJ (2014) . Journal of Neurology, Neurosurgery & Psychiatry, Vol. 85(10) (pp e4.130-e4)
  • Cooper-Knock J, Highley JR, Hartley J, Milano A, Sawcer S, Compston A, Frolov A, Charlesworth G, Wood N, Bandmann O , McDermott CJ et al (2013) Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease. LANCET, Vol. 381 (pp 32-32)
  • Highley JR, Cooper-Knock J, Frolov A, Charlesworth G, Kirby J, Wharton SB, Ince PG, Shaw PJ, Wood N & Bandman O (2013) A pathological basis for the association of parkinsonism and amyotrophic lateral sclerosis. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 39 (pp 51-51)
  • Ferraiuolo L, Higginbottom A, Heath PR, Barber S, Greenald D, Kirby J & Shaw PJ (2012) . JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 83(3)
  • Smith BN, Topp S, Barwell J, Al-Chalabi A, Kirby J, Shaw PJ, Paul H, Morrison KE, de Jong V, Baas F , Lewis CM et al (2012) Age-dependent penetrance and anticipation in ALS+/-FTLD kindreds due to C9ORF72 hexanucleotide intronic repeat expansion mutations (C9HIREM). DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, Vol. 33 (pp 282-282)
  • Smith BN, Topp S, Barwell J, Al-Chalabi A, Kirby J, Shaw PJ, Paul H, Morrison KE, de Jong V, Baas F , Lewis CM et al (2012) Age-dependent penetrance and anticipation in ALS+/-FTLD kindreds due to C9ORF72 hexanucleotide intronic repeat expansion mutations (C9HIREM). DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, Vol. 33 (pp 36-37)
  • Highley R, Kirby J, Jansweijer JA, Heath PR, Shaw PJ & Ince PG (2011) TARDBP mutations, amyotrophic lateral sclerosis and alternative splicing. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 37 (pp 20-20)
  • Hosny O, Kirby J, Simpson J & Ince P (2008) Iron metabolism pathways in white matter lesions in the elderly. JOURNAL OF NEURAL TRANSMISSION, Vol. 115(12) (pp 1717-1718)
  • Hosny O, Kirby J, Ince PG & MRC Cognitive Function & Ageing (2008) HFE gene polymorphisms and risk of brain white matter lesions (WML). NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 34 (pp 32-32)
  • Highley JR, Smith O, Brockington A, Kirby J, Wharton SB, Spillantini M, Lowe JS, Layfield R, Shaw PJ & Ince PG (2007) Extra-motor manifestations of motor neurone disease and the role of TDP43 in ALS variants. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 33(2) (pp 264-265)
  • McDermott CJ, Burness CE, Rao G, Kirby J, Shaw PJ & Spastin HSP Consortium Neurologist (2006) Further insights into HSP and spastin: Severe complicated phenotypes and evidence of lower motor neurone dysfunction. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 77(1) (pp 137-137)
  • Wood-Allum C, Barber S, Kirby J, Heath P, Holden H, Beaujeux T, Allen S, Alexson S, Ince P & Shaw P (2005) Impaired mitochondrial anti-oxidant defence in SOD1-related familial amyotrophic lateral sclerosis (FALS). JOURNAL OF THE NEUROLOGICAL SCIENCES, Vol. 238 (pp S56-S56)
  • Wood-Allum C, Barber S, Kirby J, Heath P, Ince PG, Allen S & Shaw P (2005) Perturbation of mitochondrial anti-oxidant defence in a cell-culture model of SOD1-related familial amyotrophic lateral sclerosis. JOURNAL OF NEUROLOGY, Vol. 252 (pp 18-19)
  • McDermott CJ, Dayaratne RK, Tomkins J, Johnson MA, Casari G, Turnbull DM, Bushby K & Shaw PJ (2000) Hereditary spastic paraparesis with amyotrophy and OXPHOS muscle defect associated with a deletion in the paraplegin (SPG7) gene with apparent autosomal dominant transmission. NEUROLOGY, Vol. 54(7) (pp A425-A425)
  • Shaw PJ, Tomkins J, Ince PG, Slade JY, Usher P, Curtis A & Bushby K (1997) Cu/Zn superoxide dismutase (SOD1) mutations in amyotrophic lateral sclerosis (ALS) CNS tissue: Exclusion of somatic mutations and correlations with molecular pathology. NEUROLOGY, Vol. 48(3) (pp 49005-49005)

Datasets

  • Appleby-Mallinder C, Schaber E, Kirby J, Shaw P, Cooper-Knock J, Wharton S, Heath P & Highley JR .

Preprints

  • Cooper-Knock J, Demaegd K, Kernan A, Vugt JV, Harvey C, Moll T, O'Brien D, Gornall S, Drury L, Farhan S , Dion P et al (2024) , Springer Science and Business Media LLC.
  • Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin J, Allen S, Nezhad HG, Yacovzada NS, Eitan C, Hornstein E , Ehilak E et al () .
  • Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Robberecht W , Hardiman O et al () .
  • Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P , Rivera AM et al () .
Research group

Post-doctoral Research Associate

Dr Rachel Waller

Research Technician 

Alex Daniel

PhD Student 

Katie Bowden

MSc Student

Tyler McMinn

Teaching activities

I am currently co-lead of the Advance Cell and Gene Therapies programme, as well as being module lead for several of the taught modules and the Research Project. I led the development and delivery of the MSc in Translational Neuroscience and subsequently developed and led the MSc in Genomic Medicine programme at the University of Sheffield, having secured funding and NHS bursaries to support the development of the NHS workforce in genomics. I also contribute to delivery of other several other PGT courses, including the MSc Clinical Neurology as well as our distance learning programme Neuroscience and Neurodegeneration.

I am now School Director of Education.  I was previously the Faculty of Health Director of Postgraduate Teaching and Director of Education for the Department of Neuroscience, as well as Deputy Head of Department for L&T, chairing the relevant committees associated with these roles.

I am an internal examiner for the Learning and Teaching Professional Recognition Scheme (LTPRS) and mentor applicants seeking fellowship of the Higher Education Academy.

Professional activities and memberships
  • Fellow of the Royal Society of Biology
  • Senior Fellow of Higher Education Academy
  • Member of British Society for Cell and Gene Therapy, British Society for Genomic Medicine, British Neuroscience Association, Biochemistry Society,  Genetics Society
  • Examiner of PhD and MPhil students internally, nationally and internationally
  • External Examiner for MSc/MRes Neuroscience at the University of Sussex
  • Grant Panel member of AriSLA (Italy), ALS Canada, Fight MND (Australia), JPND (Europe), New South Wales MND (Australia)
  • Commonwealth Scholarship Commission Panel of Advisors.
  • Member of the Editorial Board for Journal of Neuropathology and Applied Neurobiology
  • Peer review of grant applications for funding bodies nationally and internationally including AFM-Telethon (France), Irish Research Council, Medical Research Council, Research Council of Finland, Research Foundation Flanders (Belgium), Wellcome Trust
  • Peer review of submitted articles for high impact journals including Brain, Human Molecular Genetics, Nature Communications, Neurology and Nucleic Acid Research
  • Member of University Council (2019; 2020-present)
  • Member of University Senate (2016-present)
  • Member of Ethics Review Panel for School of Medicine (2009-present)
  • Mentor of early career researchers through Think Ahead and Elevate schemes
Current Projects
  1. Determining the transcriptional response in blood to low dose interleukin-2 (IL-2)
  2. Establishing a cohort of longitudinal biosamples for ALS biomarker research
  3. Identification of genetic causes of ALS using next generation sequencing
  4. Establishing the genetic basis of ALS & PD in Bangladesh
  5. Accelerating Research and Development for Advanced Therapies (ARDAT)
  6. Gene Therapy Innovation and Manufacturing Centre (GTIMC) / IHfGT
  7. Elucidation of distinct ALS subgroups through large scale gene expression profiling of lymphoblastoid cell lines, with a specific focus on identifying signatures associated with genetic variants and disease progression

Links