Neuroimmunology Genomics and Prognostics
Multiple Sclerosis, Neuroimmunology, Genetics, Prognostics, Pharmacogenomics, Pregnancy, Women’s Health, Biostatistics, Epidemiology
2018 Jokubaitis group. L-R: Ms Nicola McGuinn (research nurse), Dr Vilija Jokubaitis (group leader), Dr Jim Stankovich (statistician), Mr Jeremy Yuvaraj (Honours student), Ms Rashida Ali (Biobanking manager), Ms Pia Campagna (Honours student)
To improve the prediction of likely disease outcomes in people with multiple sclerosis (and other neuroimmunological diseases), to ultimately inform patient management strategies and treatment individualisation.
Multiple Sclerosis (MS) is an autoimmune degenerative disease of the central nervous system. Globally MS affect about 2.5 million people, in Australia, MS prevalence is around 1 in 1,000, equating to about 25,000 Australians. Multiple Sclerosis represents a significant burden to Australian society with an estimated annual cost of $2 billion AUD, due the cost of lost productivity, disease-modifying therapy, and other healthcare-associated costs that increase markedly with disease-associated disability
The long-term disability outcomes of people with Multiple Sclerosis (MS) vary greatly, ranging from little or no disease-associated disability, to severe disease that can render individuals wheelchair or bed-bound within a decade of onset. Further, MS disproportionately affects 2.5 times more women than men, and is usually diagnosed during a woman’s reproductive years (20-40).
Our research falls under three broad umbrellas:
- Identification of genetic and epigenetic signals associated with disease outcomes disease states, and therapy response
- Integration of biological (biomarker, genetic) and environmental data with clinical outcomes data to inform prognostic modelling
- Interrogation of the effects of pregnancy and hormones on disease outcomes in neuroinflammatory conditions
Our research integrates biological data with clinical outcomes data with the aim of better understanding what drives disability outcomes in MS, and similar neuroimmunological conditions such as neuromyelitis optica spectrum disorder (NMOSD).
We collaborate widely on many of our projects, and have strong links with the MSBase Registry, headed by Prof Helmut Butzkueven. We have a number of on-going projects that utilize genetic, genomic, biostatistic, and epidemiological methodologies to approach our research aims. Some of our current projects are listed below.
Current project funding
- 2019-22 Jokubaitis VG (CIA) NHMRC project grant (APP1156519). MultipleSclerosis: Pregnancy and Prognosis
- 2019-21 Scott R, Lechner-Scott J, Lea R, Slee M, Maltby V, Jokubaitis VG MSResearch Australia Project Grant 18-0424. Identifying changes in genome-wide DNA methylation associated with MS onset and severity.
- 2018-19 Jokubaitis VG. Monash University, NHMRC-near miss funding. Geneticdeterminants of severe multiple sclerosis: Leveraging longitudinal data forprecise phenotyping
- 2017-19 Jokubaitis VG. MS Research Australia Fellowship 16-206. Predictingprogression risk in Multiple Sclerosis – a genotype-phenotype correlationstudy
Selected recent publications
For full list of publications, visit Pubmed.
- Jokubaitis VG, Pröbstel AK, Arrambide G, Costello F, Waubant E. Introducing the International Women in Multiple Sclerosis network. Lancet Neurology 2019; 18(6):521
- Brown W, Coles A, Horakova D et al., Association of initial disease-modifying therapy with conversion to secondary progressive multiple sclerosis among patients with relapsing-remitting multiple sclerosis. JAMA 2019; 321(2):175-187
- Nguyen A, Havrdova E, Horakova D et al., Jokubaitis VG (last author). Incidence of pregnancy and disease-modifying therapy exposure trends in women with multiple sclerosis: a contemporary cohort study. MSARD2019; 28:235-243
- Hughes J, Jokubaitis V, Lugaresi A, Hupperts R, Izquierdo G, Prat A, et al., Association of Inflammation and Disability Accrual in Patients With Progressive-Onset Multiple Sclerosis. JAMA Neurol. 2018 Nov 1;75(11):1407-1415. doi: 10.1001/jamaneurol.2018.2109.
- Kalincik T, Manouchehrinia A, Sobisek L, Jokubaitis V, Spelman T, Horakova D, et al. Towards personalized therapy for multiple sclerosis: prediction of individual treatment response. Brain. 2017 Sep 1;140(9):2426-2443.
- Kalincik T, Jokubaitis V, Spelman T, Horakova D, Havrdova E, Trojano M et al. Cladribine versus fingolimod, natalizumab and interferon β for multiple sclerosis. Mult Scler. 2017 Aug 1:1352458517728812. doi: 10.1177/1352458517728812. [Epub ahead of print]
- Lorscheider J, Jokubaitis VG, Spelman T, Izquierdo G, Lugaresi A, Havrdova E, et al. Anti-inflammatory disease-modifying treatment and short-term disability progression in SPMS. Neurology. 2017 Sep 5;89(10):1050-1059
- Kalincik T, Brown JWL, Robertson N, Willis M, Scolding N, Rice CM, Wilkins A, Pearson O, Ziemssen T, Hutchinson M, McGuigan C, Jokubaitis V, Spelman T, et al. Treatment effectiveness of alemtuzumab compared with natalizumab, fingolimod, and interferon beta in relapsing-remitting multiple sclerosis: a cohort study. Lancet Neurol. 2017 Apr;16(4):271-281.
- Jokubaitis, VG & Butzkueven H. A genetic basis for multiple sclerosis severity: Red herring or real? Mol Cell Probes. 2016 Dec;30(6):357-365.
- Jokubaitis VG, Spelman T, Kalincik T, Lorscheider J, Havrdova E, Horakova D, et al. Predictors of long-term disability accrual in relapse-onset multiple sclerosis. Annals of Neurology. 2016 Jul;80(1):89-100
- Warrender-Sparkes M, Spelman T, Izquierdo G, Trojano M, Lugaresi A, Grand'Maison F, et al. Jokubaitis VG (last author). The effect of oral immunomodulatory therapy on treatment uptake and persistence in multiple sclerosis. Mult Scler. 2016 Apr;22(4):520-32.
- Jokubaitis VG, Li V, Kalincik T, Izquierdo G, Hodgkinson S, Alroughani R, et al. Fingolimod after natalizumab and the risk of short-term relapse. Neurology. 2014 Apr 8;82(14):1204-11.