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
Secretary: 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 and graduated with a First Class Honours in Genetics and the Alan Roper (Panlabs) Prize for Genetics. I went on to complete my PhD in Genetics at the MRC Human Biochemical Genetics Unit, University College London, graduating in 1996. I subsequently joined the Motor Neurone Disease Research Group at the University of Newcastle-upon-Tyne, headed by Prof Pamela Shaw. During the intervening 20 years, first at Newcastle and subsequently at the University of Sheffield, I have provided genetic input to the research strategy of investigating the molecular basis of this complex disorder.
In 2003, I was awarded a New Blood Lectureship in the Academic Neurology Unit. Having followed the academic track, I am currently a Reader in Neurogenetics.
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.
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.
I am the course leader on the MSc in Translational Neuroscience, which brings together expertise from the Departments of Neuroscience, Psychology and Biomedical Science. This course covers basic neurobiology and molecular biology, through to neuroimaging and applied clinical practise. As well as Course Lead, I am the module leader for the Molecular & Developmental Neuroscience and Genetics & Modelling of Neurodegenerative Diseases modules. I am the Director of Teaching (PGT) for Neuroscience.
I am also the Co-Lead for the MSc Genomic Medicine. This is a programme of study provided in conjunction with Health Education England, to provide biomedical and healthcare researchers with an understanding of the scope and application of genomics within clinical practise and biomedical research.
Post-doctoral Research Associates
Baker DJ, Blackburn DJ, Keatinge M, Sokhi D, Viskaitis P, Heath PR, Ferraiuolo L, Kirby J and Shaw PJ. (2015) "Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the Sod1 (G93A) mouse model of Amyotrophic Lateral Sclerosis." Front Cell Neurosci 9: 410
Bury JJ, Highley JR, Cooper-Knock J, Goodall EF, Higginbottom A, McDermott CJ, Ince PG, Shaw PJ, and Kirby J. (2015) "Oligogenic inheritance of optineurin (OPTN) and C9orf72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9orf72-ALS." Neuropathology 10.1111/neup.12240 (E-pub)
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:e0127376.
Cooper-Knock J*, Kirby J*, Highley R, Shaw PJ (2015) The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics;12:326-39. (*Joint first authors)
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.
Highley JR*, Kirby J*, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG (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;40:670-85. (*Joint first authors)
Kirby, J., J. R. Highley, L. Cox, E. F. Goodall, C. Hewitt, J. A. Hartley, H. C. Hollinger, M. Fox, P. G. Ince, C. J. McDermott, and P. J. Shaw. (2013) "Lack of Unique Neuropathology in Amyotrophic Lateral Sclerosis Associated with p.K54E Angiogenin (Ang) Mutation." Neuropathol Appl Neurobiol;39:562-71.