Sheffield Institute for
Translational Neuroscience

Professor Janine Kirby PhD

Non-clinical Professor in Neurogenetics

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 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 

Current Projects

  1. Determining the transcriptional response in blood to riluzole and low dose interleukin-2 (IMODALS and MIROCALS Clinical Trials)
  2. Identification of novel genetic causes of ALS using next generation sequencing technology
  3. Elucidation of genotype / phenotype correlations in newly identified genetic variants of ALS
  4. Isolating motor neurones from MND and control post-mortem spinal cord to look for changes in gene expression specific to genetic and disease variants of MND
  5. Elucidation of age-related changes in RNA expression profiles of the spinal cord
  6. Establishing a gene signature of fast and slow disease progression in biosamples from ALS patients
  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.
  8. Establishing biomarkers for diagnosis and monitoring progression of the disease by detecting miRNAs in the serum and CSF of patients and controls

Research Team

Post-doctoral Research Associates
  • Dr Stephanie Shepheard
PhD Students
  • Ilaria Giovanelli

  • Shaila Haque
  • Tobias Moll (second supervisor)


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.

Professional Activities

  • Peer review of grant applications for funding bodies including MRC, Wellcome Trust & Motor Neurone Disease Association (MNDA)
  • Peer review of submitted articles for high impact journals including Brain, Human Molecular Genetics and Neurology
  • Current or past member of MNDA (UK), Agenzia di Ricercaper la Sclerosci Laterale Amiotrophica (Italy) and ALS Canada Grant Review Boards
  • Member of the Editorial Board for Journal of Neuropathology and Applied Neurobiology
  • Member of Ethics Review Panel for School of Medicine


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.


  • 1992 Alan Roper (Panlabs) Prize for Genetics, University of Sheffield
  • 2003 New Blood Lectureship, University of Sheffield
  • 2010 Senate Award for Excellence in Learning & Teaching, University of Sheffield

Teaching Interests

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.

I chair the Neuroscience L&T committee and 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.

Contact Details

Sheffield Institute for Translational Neuroscience
University of Sheffield
Room B47
385a Glossop Road
S10 2HQ

T: +44 (0)114 222 2247
F: +44 (0)114 222 2290

Departmental Secretary: 
Bev Carter
T: +44 (0)114 22 22295

MSc Translational Neuroscience Course Administrator:
Helen Hickson (Mon – Fri)
T: +44 (0)114 222 2296