Dr. Janine Kirby PhD
Reader in Neurogenetics
Department of Neuroscience
Sheffield Institute for Translational Neuroscience
University of Sheffield
385a Glossop Road
Telephone: +44 (0)114 22 22247
Fax: +44 (0)114 22 22290
Administrator: Bev Carter
Tel: +44 (0)114 22 22295
MSc Courses Administrator: Helen Hickson
Tel: +44 (0)114 2222296
I first came to the University of Sheffield as an undergraduate, graduating with a First Class Honours in Genetics and the Alan Roper (Panlabs) Prize for Genetics. I then went on to complete my PhD in Genetics at the MRC Human Biochemical Genetics Unit, University College London. I subsequently joined the Motor Neurone Disease 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, I have focused on the genetic and transcriptomic analysis of ALS, in order 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 having followed the academic track, I am currently a Reader in Neurogenetics. I am also Deputy Head of Department for Learning and Teaching.
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 25 loci identified for the most common form of the disease, ALS, and the causative genes have been identified at most of these through the application of next generation sequencing. 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 models of the disease 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, I am looking at the impact of therapeutic treatments on the blood transcriptome.
I was instrumental in developing and delivering the MSc in Genomic Medicine at the University of Sheffield. I am co-lead of this programme, as well as module lead for several of the taught modules and the Research Project. I was previously course lead for the MSc Translational Neuroscience, which covers basic neurobiology and molecular biology, through to neuroimaging and applied clinical practise. I am the module leader for the Research Projects on this course. In terms of L&T leadership, I chair the Neuroscience L&T committee and Medical School Postgraduate Taught Programmes Committee and I am Director of Learning and Teaching for the Department of Neuroscience, as well as Deputy Head for L&T.
Post-doctoral Research Associates
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M, Robberecht W, Hardiman O, Panades MP, Assialioui A, Mora JS, Basak AN, Morrison KE, Shaw CE, Al-Chalabi A, Landers JE, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, McDermott CJ, Hautbergue GM, Kirby J, Shaw PJ. Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. Cell Rep. 2019;26(9):2298-306 e5
Waller R, Goodall EF, Milo M, Cooper-Knock J, Da Costa M, Hobson E, Kazoka M, Wollff H, Heath PR, Shaw PJ, Kirby J. Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). Neurobiol Aging. 2017;55:123-31.
Stopford MJ, Higginbottom A, Hautbergue GM, Cooper-Knock J, Mulcahy PJ, De Vos KJ, Renton AE, Pliner H, Calvo A, Chio A, Traynor BJ, Azzouz M, Heath PR, Italsgen Consortium NC, Kirby J, Shaw PJ. C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Hum Mol Genet. 2017;26(6):1133-45
Bayatti, N., J. Cooper-Knock, J. J. Bury, M. Wyles, P. R. Heath, J. Kirby, and P. J. Shaw. (2014) "Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis." PLoS One 9: e87508 10.1371/journal.pone.0087508.
Kirby, J., K. Ning, L. Ferraiuolo, P. R. Heath, A. Ismail, S. W. Kuo, C. F. Valori, L. Cox, B. Sharrack, S. B. Wharton, P. G. Ince, P. J. Shaw, and M. Azzouz. (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: 506-17 10.1093/brain/awq345.