Sheffield Institute for
Translational Neuroscience

Dr Janine Kirby PhD

Non-clinical Reader 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 at least 25 loci for the most common form of the disease, ALS, of which the causative genes have been identified at 22 loci. 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.

Current Projects

  1. 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
  2. Establishing biomarkers for the diagnosis of ALS and PLS (a rarer variant of MND) using gene expression profiling of fibroblast patient and control samples
  3. Establishing biomarkers for diagnosis and monitoring progression of the disease by detecting miRNAs in the serum and CSF of patients and controls
  4. 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 rapid and slow disease progression.
  5. Determining the crosstalk between in astrocytes and motor neurones in animal models and post-mortem ALS material.
  6. Investigating the mechanisms of how the GGGGCC repeat expansion in C9ORF72 leads to motor neurone death through generation and characterisation of a cellular model in NSC34 cells
  7. Elucidation of genotype / phenotype correlations in newly identified genetic variants of ALS
  8. Identification of novel genetic causes of ALS using next generation sequencing technology
  9. Elucidation of age-related changes in RNA expression profiles of the spinal cord

Research Team

Post-doctoral Research Associates
  • Dr Emily Goodall
  • Dr Nadhim Bayatti
PhD Students
  • Joanna Bury
  • David Baker
  • Matthew Stopford
  • Jonathan Cooper-Knock


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.

Cooper-Knock, J., P. J. Shaw, and J. Kirby. (2014) "The Widening Spectrum of C9orf72-Related Disease; Genotype/Phenotype Correlations and Potential Modifiers of Clinical Phenotype." Acta Neuropathol  10.1007/s00401-014-1251-9.

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. (2012) "Lack of Unique Neuropathology in Amyotrophic Lateral Sclerosis Associated with P.K54e Angiogenin (Ang) Mutation." Neuropathol Appl Neurobiol  10.1111/nan.12007.

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.

Kirby, J., E. F. Goodall, W. Smith, J. R. Highley, R. Masanzu, J. A. Hartley, R. Hibberd, H. C. Hollinger, S. B. Wharton, K. E. Morrison, P. G. Ince, C. J. McDermott, and P. J. Shaw. (2010) "Broad Clinical Phenotypes Associated with Tar-DNA Binding Protein (Tardbp) Mutations in Amyotrophic Lateral Sclerosis." Neurogenetics 11: 217-25 10.1007/s10048-009-0218-9.

Professional Activities

  • Peer review of grant applications for funding bodies including MRC, Wellcome Trust & Motor Neurone Disease Association
  • Peer review of submitted articles for high impact journals including Neurology, Annals of Neurology and Human Molecular Genetics
  • Member of the Motor Neurone Disease Association Biomedical Research Advisory Board UK and Agenzia di Ricercaper la Sclerosci Laterale Amiotrophica, Italy
  • 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 in 1989 as an undergraduate, graduating in 1992 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, 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 following 18 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 and in 2010 was promoted to Senior Lecturer in Neurogenetics.


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 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 Molecular & Developmental Neuroscience,  Genetics & Modelling of Neurodegenerative Diseases modules and the Research Project.

I am also involved in the MSc in Molecular Medicine, as co-lead on the Neuroscience pathway.
I am a member of the MSc Translational Neuroscience committee, MSc Molecular Medicine committee, Postgraduate Taught Programmes Committee and I am PGT lead for the Department of Neuroscience.

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: 
Joanne Brodie (Mon, Tues) 
T: +44 (0)114 22 22262

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