Kirby, Janine - University of Sheffield - Department of Neuroscience

个人简介

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.

研究领域

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.

近期论文

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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)