Professor Janine Kirby

PhD

Neuroscience, School of Medicine and Population Health

School Director of Education

Professor in Neurogenetics

j.kirby@sheffield.ac.uk
+44 114 222 2247

+44 114 222 2296 (MSc Courses Administrator: Helen Hickson)

Room B47, Sheffield Institute for Translational Neuroscience (SITraN)

Full contact details

Professor Janine Kirby
Neuroscience, 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 Deputy Head of the Division of Neuroscience and 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 (https://ardat.org/) 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) (https://www.genetherapyhubs.uk/).

Publications

Journal articles

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) Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. Cell Genomics, 100679-100679.
Vrellaku B, Hassan IS, Howitt R, Webster CP, Harriss E, McBlane F, Betts C, Schettini J, Lion M, Mindur JE , Duerr M et al (2024) A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders. Molecular Therapy.
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) Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis. Annals of the New York Academy of Sciences.
Marín‐Márquez C, Kirby J & Hunter KD (2024) Molecular pathogenesis of ameloblastoma. Journal of Oral Pathology & Medicine, 53(5), 277-293.
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) Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias. Cell Genomics, 3(6), 100316-100316.
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 (2022) Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP. Brain Pathology. View this article in WRRO
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) Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry.
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) Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene. Cell Reports, 34(5), 108730-108730.
De Marco M, Manca R, Kirby J, Hautbergue G, Blackburn DJ, Wharton S & Venneri A (2020) The association between polygenic hazard scores and clinical markers of Alzheimer’s disease following stratification for APOE genotype. Alzheimer's & Dementia, 16(S4).
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A , Ibáñez K et al (2020) Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron.
De Marco M, Manca R, Kirby J, Hautbergue GM, Blackburn DJ, Wharton SB & Venneri A (2020) The Association between Polygenic Hazard and Markers of Alzheimer’s Disease Following Stratification for APOE Genotype. Current Alzheimer Research, 17.
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) Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial. EBioMedicine. View this article in WRRO
Ranganathan R, Haque S, Coley K, Shepheard S, Cooper-Knock J & Kirby J (2020) Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia. Frontiers in Neuroscience, 14. View this article in WRRO
Giovannelli I, Heath P, Shaw PJ & Kirby J (2020) The involvement of regulatory T cells in amyotrophic lateral sclerosis and their therapeutic potential. Amyotrophic lateral sclerosis & frontotemporal degeneration. View this article in WRRO
Lorente Pons A, Higginbottom A, Cooper‐Knock J, Alrafiah A, Alofi E, Kirby J, Shaw PJ, Wood JD & Highley JR (2020) Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis. The Journal of Pathology. View this article in WRRO
Appleby‐Mallinder C, Schaber E, Kirby J, Shaw PJ, Cooper‐Knock J, Heath PR & Highley JR (2020) TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis. Neuropathology and Applied Neurobiology. View this article in WRRO
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) Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene. Cell Reports, 33(9), 108456-108456.
Weinreich M, Shepheard S, Verber N, Wyles M, Heath P, Highley JR, Kirby J & Shaw P (2019) Neuropathological characterisation of a novel TBK1 loss of function mutation associated with amyotrophic lateral sclerosis. Neuropathology & Applied Neurobiology. View this article in WRRO
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) Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. Cell Reports, 26(9), 2298-2306.e5. View this article in WRRO
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) Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiology of Aging, 73, 229.e5-229.e9. View this article in WRRO
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) Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis. Annals of Neurology, 85(4), 470-481.
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) ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiology of Aging, 71, 266.e1-266.e10. View this article in WRRO
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) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron, 97(6), 1268-1283.e6. View this article in WRRO
Waller R, Wyles M, Heath PR, Kazoka M, Wollff H, Shaw P & Kirby J (2018) Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity. Frontiers in Neuroscience, 11. View this article in WRRO
Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, Ince PG, Hautbergue GM , McDermott CJ et al (2017) Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in Molecular Neuroscience, 10, 370-370. View this article in WRRO
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) SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nature Communications, 8. View this article in WRRO
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) Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 55, 123-131. View this article in WRRO
Smith BN, Topp SD, Fallini C, Shibata H, Chen H-J, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A , Miller JW et al (2017) Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine, 9(388). View this article in WRRO
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) A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis.. Acta Neuropathol Commun, 5(1), 23-23. View this article in WRRO
Stopford M, Higginbottom A, Hautbergue , Cooper-Knock , Mulcahy , De Vos K, Renton A, Pliner H, Calvo A, Chio A , Traynor B et al (2017) C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Human Molecular Genetics, 26(6), 1133-1145. View this article in WRRO
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) Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-7. View this article in WRRO
Highley JR, Pons AL, Cooper‐Knock J, Wharton SB, Ince PG, Shaw PJ, Wood J & Kirby J (2016) Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate‐length CAG repeat expansions in Ataxin‐2 does not have 1C2‐positive polyglutamine inclusions. Neuropathology and Applied Neurobiology, 42(4), 377-389. View this article in WRRO
Al Sultan A, Waller R, Heath P & Kirby J (2016) The genetics of amyotrophic lateral sclerosis: current insights. Degenerative Neurological and Neuromuscular Disease, 6, 49-64. View this article in WRRO
Bury JJ, Highley JR, Cooper‐Knock J, Goodall EF, Higginbottom A, McDermott CJ, Ince PG, Shaw PJ & Kirby J (2016) Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP‐43‐negative inclusions of C9ORF72‐ALS. Neuropathology, 36(2), 125-134. View this article in WRRO
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) Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 404-413. View this article in WRRO
Baker DJ, Blackburn DJ, Keatinge M, Sokhi D, Viskaitis P, Heath PR, Ferraiuolo L, Kirby J & Shaw PJ (2015) Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 G93A mouse model of amyotrophic lateral sclerosis. Frontiers in Cellular Neuroscience, 9. View this article in WRRO
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) The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. Neurobiology of Aging, 36(10), 2908.e17-2908.e18. View this article in WRRO
Cooper-Knock J, Higginbottom A, Stopford MJ, Highley JR, Ince PG, Wharton SB, Pickering-Brown S, Kirby J, Hautbergue GM & Shaw PJ (2015) Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta Neuropathologica, 130(1), 63-75. View this article in WRRO
Cooper-Knock J, Bury JJ, Heath PR, Wyles M, Higginbottom A, Gelsthorpe C, Highley JR, Hautbergue G, Rattray M, Kirby J & Shaw PJ (2015) C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis. PLOS ONE, 10(5), e0127376-e0127376. View this article in WRRO
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) Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes. Neurobiology of Aging, 36(5), 2006.e1-2006.e9. View this article in WRRO
Cooper-Knock J, Kirby J, Highley R & Shaw PJ (2015) The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics, 12(2), 326-339. View this article in WRRO
Walsh MJ, Cooper-Knock J, Dodd JE, Stopford MJ, Mihaylov SR, Kirby J, Shaw PJ & Hautbergue GM (2015) Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathology and Applied Neurobiology, 41(2), 109-134. View this article in WRRO
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) Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.. Neuropathol Appl Neurobiol, 41(2), 201-226. View this article in WRRO
Beer AM, Cooper-Knock J, Higginbottom A, Highley JR, Wharton SB, Ince PG, Milano A, Jones AA, Al-Chalabi A, Kirby J & Shaw PJ (2015) Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(3-4), 249-251. View this article in WRRO
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) Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.. Neuropathol Appl Neurobiol, 40(6), 670-685.
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) Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 15(5-6), 344-350.
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) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.. Brain, 137(Pt 7), 2040-2051. View this article in WRRO
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) GGGGCC Repeat Expansion of C9ORF72 Is Toxic Via Sequestration Of RNA Binding Proteins And Consequent Disruption Of RNA Splicing (S56.004). 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) GGGGCC Repeat Expansion of C9ORF72 Is Toxic Via Sequestration Of RNA Binding Proteins And Consequent Disruption Of RNA Splicing (1II-2.005). 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) Axonal Preservation in Deep Subcortical White Matter Lesions in the Ageing Brain. Journal of Aging Science, 2(1). View this article in WRRO
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) TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.. Acta Neuropathol, 127(3), 407-418. View this article in WRRO
Cooper-Knock J, Shaw PJ & Kirby J (2014) The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.. Acta Neuropathol, 127(3), 333-345. View this article in WRRO
Bayatti N, Cooper-Knock J, Bury JJ, Wyles M, Heath PR, Kirby J & Shaw PJ (2014) Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis.. PLoS One, 9(1), e87508. View this article in WRRO
Cooper-Knock J, Higginbottom A, Connor-Robson N, Bayatti N, Bury JJ, Kirby J, Ninkina N, Buchman VL & Shaw PJ (2013) C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.. Neurology, 81(19), 1719-1721.
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) ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Human Molecular Genetics, 22(18), 3690-3704.
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) C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.. Neurology, 81(9), 808-811.
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) S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis.. 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) Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation.. Mol Neurodegener, 8, 12. View this article in WRRO
Heath PR, Kirby J & Shaw PJ (2013) Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics.. Front Cell Neurosci, 7, 259. View this article in WRRO
Goodall EF, Heath PR, Bandmann O, Kirby J & Shaw PJ (2013) Neuronal dark matter: the emerging role of microRNAs in neurodegeneration.. Front Cell Neurosci, 7, 178. View this article in WRRO
Kirby J, Highley JR, Cox L, Goodall EF, Hewitt C, Hartley JA, Hollinger HC, Fox M, Ince PG, McDermott CJ & Shaw PJ (2013) Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation.. Neuropathol Appl Neurobiol, 39(5), 562-571. View this article in WRRO
Brockington A, Ning K, Heath PR, Wood E, Kirby J, Fusi N, Lawrence N, Wharton SB, Ince PG & Shaw PJ (2013) Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity.. Acta Neuropathol, 125(1), 95-109. View this article in WRRO
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) Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.. 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) The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.. Eur J Hum Genet, 21(1), 102-108.
Cooper-Knock J, Kirby J, Ferraiuolo L, Heath PR, Rattray M & Shaw PJ (2012) Gene expression profiling in human neurodegenerative disease.. Nat Rev Neurol, 8(9), 518-530.
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) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.. Brain, 135(Pt 3), 751-764.
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.
Ince PG, Highley JR, Kirby J, Wharton SB, Takahashi H, Strong MJ & Shaw PJ (2011) Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.. Acta Neuropathol, 122(6), 657-671.
Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M & Shaw PJ (2011) Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis.. Nat Rev Neurol, 7(11), 616-630.
Ferraiuolo L, Higginbottom A, Heath PR, Barber S, Greenald D, Kirby J & Shaw PJ (2011) Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis.. Brain, 134(Pt 9), 2627-2641.
Gebril OH, Kirby J, Savva G, Brayne C & Ince PG (2011) HFE H63D, C282Y and AGTR1 A1166C Polymorphisms and Brain White Matter Lesions in the Aging Brain. 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) Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis.. Brain, 134(Pt 2), 506-517. View this article in WRRO
Gebril OH, Simpson JE, Kirby J, Brayne C & Ince PG (2011) Brain iron dysregulation and the risk of ageing white matter lesions. NeuroMolecular Medicine, 13(4), 289-299.
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.
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) Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.. Neurogenetics, 11(2), 217-225. View this article in WRRO
Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ & Shaw PJ (2010) Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.. 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) Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).. PLoS One, 5(3), e9872. View this article in WRRO
Tomkins J (2010) Molecular and evolutionary investigation of the phosphoglucomutase gene family..
Ferraiuolo L, De Bono JP, Heath PR, Holden H, Kasher P, Channon KM, Kirby J & Shaw PJ (2009) Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS.. J Neurochem, 109(6), 1714-1724.
Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y & Shaw P (2009) New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).. Neurogenetics, 10(2), 105-110.
Hewamadduma CAA, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott CJ & Shaw PJ (2008) HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.. Neurology, 70(19), 1717-1718.
Ferraiuolo L, Heath PR, Holden H, Kasher P, Kirby J & Shaw PJ (2007) Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.. J Neurosci, 27(34), 9201-9219.
Kirby J, Hewamadduma CAA, Hartley JA, Nixon HC, Evans H, Wadhwa RR, Kershaw C, Ince PG & Shaw PJ (2007) Mutations in VAPB are not associated with sporadic ALS.. 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) Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.. Ann Neurol, 61(5), 427-434.
Kirby J, Heath PR, Shaw PJ & Hamdy FC (2007) Gene expression assays.. Adv Clin Chem, 44, 247-292.
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) Clinical features of hereditary spastic paraplegia due to spastin mutation.. 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) Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen.. 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) Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS.. Brain, 128(Pt 7), 1686-1706.
Brockington A, Kirby J, Eggitt D, Schofield E, Morris C, Lewis CE, Ince PG & Shaw PJ (2005) Screening of the regulatory and coding regions of vascular endothelial growth factor in amyotrophic lateral sclerosis. 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) Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).. 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) Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways.. J Biol Chem, 278(8), 6371-6383.
Heath PR, Tomkins J, Ince PG & Shaw PJ (2002) Quantitative assessment of AMPA receptor mRNA in human spinal motor neurons isolated by laser capture microdissection.. Neuroreport, 13(14), 1753-1757.
Menzies FM, Grierson AJ, Cookson MR, Heath PR, Tomkins J, Figlewicz DA, Ince PG & Shaw PJ (2002) Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis.. J Neurochem, 82(5), 1118-1128.
Kirby J, Menzies FM, Cookson MR, Bushby K & Shaw PJ (2002) Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease.. Hum Mol Genet, 11(17), 2061-2075.
Tomkins J, Banner SJ, McDermott CJ & Shaw PJ (2001) Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis.. 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) Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.. Neurology, 56(4), 467-471.
Tomkins J, Dempster S, Banner SJ, Cookson MR & Shaw PJ (2000) Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS).. 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) Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS).. Neuroreport, 9(17), 3967-3970.
Ince PG, Tomkins J, Slade JY, Thatcher NM & Shaw PJ (1998) Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS.. J Neuropathol Exp Neurol, 57(10), 895-904.
Shaw PJ, Thagesen H, Tomkins J, Slade JY, Usher P, Jackson A, Curtis A, Bushby K & Ince PG (1998) Kennedy's disease: unusual molecular pathologic and clinical features.. Neurology, 51(1), 252-255.
Whitehouse DB, Tomkins J, Lovegrove JU, Hopkinson DA & McMillan WO (1998) A phylogenetic approach to the identification of phosphoglucomutase genes. Molecular Biology and Evolution, 15(4), 456-462.
Shaw PJ, Tomkins J, Slade JY, Usher P, Curtis A, Bushby K & Ince PG (1997) CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND).. 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) Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line. Annals of Human Genetics, 61(2), 99-108.
TOMKINS J, FOX M, LOVEGROVE JU, PARRINGTON J, HOPKINSON DA & WHITEHOUSE DB (1997) Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line. Annals of Human Genetics, 61(2), 99-108.
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 () Establishing mRNA and microRNA interactions driving disease heterogeneity in amyotrophic lateral sclerosis patient survival. Brain Communications.
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 () A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations. Frontiers in Aging Neuroscience, 15.
Giovannelli I, Higginbottom A, Kirby J, Azzouz M & Shaw PJ () Prospects for gene replacement therapies in amyotrophic lateral sclerosis. Nature Reviews Neurology.
Jiménez-Villegas J, Kirby J, Mata A, Cadenas S, Turner MR, Malaspina A, Shaw PJ, Cuadrado A & Rojo AI () Dipeptide Repeat Pathology in C9orf72-ALS Is Associated with Redox, Mitochondrial and NRF2 Pathway Imbalance. Antioxidants, 11(10), 1897-1897.
Thompson AG, Gray E, Verber N, Bobeva Y, Lombardi V, Shepheard SR, Yildiz O, Feneberg E, Farrimond L, Dharmadasa T , Gray P et al () Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain. Brain Communications.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR , Cookson MR et al () Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurology.
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 () Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2. Brain Communications.

Chapters

Castelli L, Vasta R, Allen SP, Waller R, Chiò A, Traynor BJ & Kirby J (2024) From use of omics to systems biology: Identifying therapeutic targets for amyotrophic lateral sclerosis, International Review of Neurobiology (pp. 209-268). Elsevier
Shaw PJ & Kirby J (2024) Preface, International Review of Neurobiology (pp. xix-xx). Elsevier
Shaw PJ & Kirby J (2024) INTERNATIONAL REVIEW OF NEUROBIOLOGY Motor Neurone Disease Preface, MOTOR NEURONE DISEASE (pp. XIX-XX).
Lynch MA, Hardiman O, Elamin M, Kirby J & Rowland LP (2016) Common Themes in the Pathogenesis of Neurodegeneration, Neurodegenerative Disorders (pp. 1-12). Springer International Publishing
Cooper-Knock J, J. J, Ferraiuolo L, F. E, J. P & Kirby J () Insights Arising from Gene Expression Profiling in Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis InTech
F. E, J. J, Cooper-Knock J, J. P & Kirby J () Genetics of Familial Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis InTech

Conference proceedings papers

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) IMMUNO-MODULATION IN AMYOTROPHIC LATERAL SCLEROSIS A PHASE II STUDY OF SAFETY AND ACTIVITY OF LOW DOSE INTERLEUKIN-2 (IMODALS study). NEUROLOGY, Vol. 88
(2016) Nottingham Pathology 2016. 9th Joint Meeting of the British Division of the International Academy of Pathology and the Pathological Society of Great Britain & Ireland, 28 June - 1 July 2016. The Journal of Pathology, Vol. 240 (pp S1-S48) View this article in WRRO
Lorente-Pons A, Wood JD, Shaw PJ, Ince PG, Cooper-Knock J, Ramachandran A, Kirby J & Highley JR (2016) Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 42(S1) (pp 28-28), 2 March 2016 - 4 March 2016. View this article in WRRO
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) AMYOTROPHIC LATERAL SCLEROSIS ASSOCIATED WITH AN INTERMEDIATE LENGTH GGGGCC REPEAT EXPANSION HAS DISTINCT NEUROPATHOLOGY COMPARED TO PATIENTS WITH LARGER EXPANSIONS. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 85(10) (pp e4.130-e4)
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)
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)
Ferraiuolo L, Higginbottom A, Heath PR, Barber S, Greenald D, Kirby J & Shaw PJ (2012) DYSREGULATION OF THE CROSS-TALK WITH ASTROCYTES AS A CONTRIBUTORY FACTOR TO MOTOR NEURON INJURY IN MOTOR NEURON DISEASE. 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 TDP43 proteinopathy is associated with aberrant DNA methylation in human Amyotrophic Lateral Sclerosis.

Preprints

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 () Rare Variant Burden Analysis within Enhancers Identifies CAV1 as a New ALS Risk Gene.
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 () Mutations in the Glycosyltransferase Domain of GLT8D1 Cause Amyotrophic Lateral Sclerosis.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P , Rivera AM et al () Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene.

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 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

Determining the transcriptional response in blood to low dose interleukin-2 (IL-2)
Establishing a cohort of longitudinal biosamples for ALS biomarker research
Identification of genetic causes of ALS using next generation sequencing
Establishing the genetic basis of ALS & PD in Bangladesh
Accelerating Research and Development for Advanced Therapies (ARDAT)
Gene Therapy Innovation and Manufacturing Centre (GTIMC) / IHfGT
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

School of Medicine and Population Health