Dr. Janine Kirby PhD
Non-Clinical Lecturer
Academic Neurology Unit
Department of Neuroscience
Sheffield Institute for Translational Neuroscience
University of Sheffield
Room B47
385a Glossop Road
Sheffield
S10 2HQ
Telephone: +44 (0)114 22 22247
Fax: +44 (0)114 22 22290
Email: j.kirby@sheffield.ac.uk
Secretary: Joanne Brodie (Mon, Tues)
Tel: +44 (0)114 22 22262
Email: j.brodie@sheffield.ac.uk
Biography
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 15 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.
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 15 loci for the most common form of the disease, ALS, of which the causative genes have been identified at 11 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.
Teaching Interests
I am the course leader on the new MSc in Translational Neuroscience, beginning in September 2011, 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 also involved in the MSc in Molecular Medicine, as the academic lead for the Intro Days, co-lead on the Neuroscience pathway and module leader for the Laboratory Project and Presentation module.
I am a member of the MSc Translational Neuroscience committee, MSc Molecular Medicine committee, MSc Molecular Medicine Executive committee and Postgraduate Taught Programmes Committee.
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
Ethics Reviewer for School of Medicine
Current Projects
1) Determining the contribution of optineurin gene mutations in MND patients in the North of England
2) 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
3) Determining the role of the TDP-43 protein in sporadic MND and TARDBP-mutant related MND cases
4) Establishing biomarkers for the diagnosis of ALS and PLS (a rarer variant of MND) using gene expression profiling on blood and fibroblast patient and control samples
5) Establishing biomarkers for diagnosis and monitoring progression of the disease by detecting miRNAs in the serum of patients and controls
6) Elucidating the role of mutant CHMP2B in neurodegeneration
Key Publications
Kirby J*, Ning K*, Ferraiuolo L, Heath PR, Ismail A, Kuo S-W, Valori CF, Cox LE, Sharrack B, Wharton SB, Ince PG, Shaw PJ, and Azzouz M (2011) PTEN/AKT pathway linked to motor neuron survival in human SOD1-related amyotrophic lateral sclerosis. Brain doi:10.1093/brain/awq345 (*Joint first authors)
Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ, and Shaw PJ (2010) Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 67:455-461.
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J*, and Shaw PJ* (2010) Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One 5:e9872. (*Joint senior authors)
Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE, Ince PG, McDermott CJ, and Shaw PJ (2010) Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics 11:217-225.