Genetic predictors of disease outcome in Multiple Sclerosis and Clinically Isolated Syndrome
MS is a highly heterogeneous disease underscored by complex pathophysiology and genetic architecture. The task of identifying genetic variants predisposing outcome is, therefore a complex one. Little is known about the genetic determinants of MS phenotype. A small number of cross-sectional studies suggest that genetic variation is responsible for various phenotypic outcomes, but no variant has yet been found significant at a genome-wide level, nor replicated.
This is an exciting world-first project that aims to identify genetic determinants of MS outcome, using prospectively acquired, long-term outcomes data to define specific phenotypes of interest. Ours is the lead site for this project within a multinational, strongly collaborative framework. We expect to have some preliminary results in 2017.
- Dr Vilija Jokubaitis, Project Leader
- A. Prof Dana Horakova, and Prof Eva Havrdova, Charles University Prague, Czech Republic
- Prof Guillermo Izquierdo, Hospital Universitario Virgen Macarena, Seville, Spain
- Dr Fuencisla Matesanz Instituto de Parasitología y Biomedicina López Neyra, CSIC, Granada, Spain
- Prof Jan Hillert, and Dr Ali Manouchehrinia Karolinska Institutet, Stockholm, Sweden
- Prof Philip de Jager, Brigham and the Women's Hospital, Harvard Medical School, Boston, MA, USA
- Prof. Trevor Kilpatrick, Melbourne Neuroscience Institute, University of Melbourne, VIC, Australia
- A. Prof Jeannette Lechner-Scott, University of Newcastle, Newcastle, NSW, Australia
- A. Prof Mark Slee, Flinders University and Medical Centre, Adelaide, SA, Australia
- Prof. Michael Barnett, Brain and Mind Centre, University of Sydney, NSW, Australia
- Dr Steve Vucic and Prof David Booth, Westmead Institute, University of Sydney, NSW, Australia
- Prof. Bruce Taylor, Menzies Research Institute, Univesity of Tasmania, TAS, Australia
This study is supported by grants from:
- The Royal Melbourne Hospital [MH2013-055]
- MSBase Foundation Project Grant
- CharityWorks for MS/MS Research Australia [MSRA12-062]
This research project is available to PhD students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.
- Jokubaitis VG, Spelman T, Kalincik T et al., Predictors of long-term disability accrual in relapse-onset multiple sclerosis. Ann Neurol. 2016 May 4. doi: 10.1002/ana.24682 [Epub ahead of print]
- Mahukar S, Moldovan M, Suppiah V, et al., Response to interferon-beta treatment in multiple sclerosis patients: a genome-wide association study. Pharmacogenomics J. 2016 Mar 22. [Epub ahead of print].
- Jokubaitis VG, Spelman T, Kalincik T, et al., Predictors of disability worsening in clinically isolated syndrome. Ann Clin Transl Neurol. 2015; 2(5): 479-91
- Jonas A, Thiem S, Kuhlmann T, et al., Axonally derived matrilin-2 induces proinflammatory responses that exacerbate autoimmune neuroinflammation. J Clin Invest. 2014; 124(11): 5042-56
- Jokubaitis VG, Gresle MM, Kemper DA et al., Endogenously regulated Dab2 worsen inflammatory injury in experimental autoimmune encephalomyelitis. Acta Neuropathol Commun. 2013; 1(32). doi: 10.1186/2051-5960-1-32.