Genetic predictors of disease outcome in Multiple Sclerosis and Clinically Isolated Syndrome

Project Details

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.



  • 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 Parasitolog√≠a y Biomedicina L√≥pez 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]

Research Opportunities

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.

Research Publications

  1. 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]
  2. 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].
  3. 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
  4. 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
  5. 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.

Research Group

Multiple Sclerosis Outcomes and Prognostics Team

Faculty Research Themes


School Research Themes

Neuroscience & Psychiatry

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Medicine and Radiology

Unit / Centre

Multiple Sclerosis Outcomes and Prognostics Team