Janine Kirby

Janine Kirby

Programme Lead

University of Sheffield

Professor Kirby’s research interests focus on the genetics of ALS/MND, and how measuring which genes are being switched on or off, termed gene expression profiling (GEP), can be used to investigate the disease mechanisms of neurodegeneration and identify diagnostic and prognostic biomarkers.

Her research using human biosamples, as well as animal and cellular models, has identified disease mechanisms that contribute to the death of motor neurones, such as detecting the dysregulation of NRF2, a master regulator of gene expression which switches other genes on and off, and this is now a therapeutic target in ALS. More recently, GEP of patient’s blood samples enrolled in the IMODALS clinical trial have established the effect of low-dose interleukin-2 and demonstrated that there is variability in how people respond to the drug. Finally, the value of routine genetic screening of all ALS-related genes in all ALS patients has been demonstrated, identifying the presence of C9orf72 and SOD1 variants in patients with no family history, thereby making them eligible to participate in clinical trials for patients with mutations in these specific genes.

As well as an active researcher, Janine is also supporting the development of the next generation of researchers, having led the development and initial delivery of the MSc Translational Neuroscience in Sheffield. She now co-leads the MSc Advanced Cell & Gene Therapies and balances her academic duties with leadership roles including Departmental Director of Education for Neuroscience, Faculty Director of Postgraduate Education and member of University Senate and University Council.