Dr Justin Rubio
BSc (Hons) PhD (Melb)
RD Wright Fellow
Multiple Sclerosis Group
Laboratory Head, Neurogenetics Laboratory
Contact Details
Email: | |
Phone: | +61 (0)3 8344 6386 |
Fax: | +61 (0)3 9348 1707 |
Dr Justin Rubio is an NHMRC R. Douglas Wright Fellow at the Howard Florey Institute (HFI), a Senior Research Fellow of the Centre for Neuroscience at the University of Melbourne and is Head of the Neurogenetics Laboratory. He completed a PhD at the Walter and Eliza Hall Institute of Medical Research (WEHI) in 1996 and moved to Oxford (UK) where he spent nearly three years as a Howard Florey Post-doctoral Fellow at the Wellcome Trust Centre for Human Genetics. He mapped and cloned the gene for CHOREIN, which is mutated in the human movement disorder chorea acanthocytosis, and then returned to WEHI where he was Project Leader of the Gene-CRC’s Tasmanian Multiple Sclerosis Project from 1999-2004. In 2004 he moved to HFI to establish the Neurogenetics Laboratory.
Research Interests
- Dr Rubio’s interests are focused on dissecting the genetics of human neurological diseases through genetic mapping, population genetics and functional genetics. He oversees one of the largest DNA banks in the world for multiple sclerosis (MS), and is building a DNA bank for Parkinson’s disease (PD). Through collaborations with Professors Trevor Kilpatrick (Head of the MS Group) and Malcolm Horne (Head of the Brain Injury and Repair Group) at HFI, he has access to patients through the Royal Melbourne Hospital and St. Vincent’s Hospital, respectively.
- Dr Rubio is spearheading the establishment of the MS Gene Bank, a venture sponsored by MS Research Australia, to facilitate MS genetic research in this country. He is also involved in a multi-centre (University of Melbourne, Sydney University, Newcastle University, Griffith University and University of Tasmania) project that aims to identify gene loci that influence the clinical course of MS by scanning the entire human genome.
- With critical resources and cutting-edge technologies at his disposal, Dr Rubio is currently investigating the complex interplay between genetic variation, gene expression and function in both MS and PD. The PD GeneChip (a silicon chip-based approach of DNA sequencing) is an example of a cutting-edge technology that has been developed in the Neurogenetics Lab for high-throughput diagnostic screening of genes that are known to be involved in PD.
Laboratory Techniques
- DNA sequencing
- Genotyping (SNP and microsatellite)
- In silico data mining of genomic sequence and biological data
- Biostatistics
- Gene and protein expression analysis
- Recombinant DNA technology
- Cell culture
Publications and Articles
Rubio JP, Bahlo M, Stankovich J, Burfoot RK, Johnson LJ, Huxtable SJ, Butzkueven H, Lin L, Taylor BV, Speed TP, Kilpatrick TJ, Mignot E and Foote SJ (2006) Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients (in press Immunogenetics 14/11/06)
Bugeja MJ, Booth D, Bennetts B, Heard R, Rubio J, Stewart G (2006) An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians. BMC Med Genet Jul 26; 7: 64.
Stankovich J, Cox CJ, Tan RB, Montgomery DS, Huxtable SJ, Rubio JP, Ehm MG, Johnson LJ, Butzkueven H, Kilpatrick TJ, Speed TP, Roses AD, Bahlo M, Foote SJ (2006) On the utility of data from the International HapMap project for Australian association studies. Human Genetics Jan 11; 1-3.
Bahlo M, Stankovich J, Speed TP, Rubio JP, Burfoot RK and Foote SJ (2005) Detecting genome-wide haplotype sharing using SNP or microsatellite haplotype data. Human Genetics Dec 14; 1-13
Booth DR, Arthur AT., Teutsch SM , Bye C., Rubio JP., Armati PJ, Pollard JP, Heard RNS, Stewart, GJ (2005) Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis. J Mol Med 83(10):822-30.
Stankovich J, Bahlo M, Rubio JP, Wilkinson CR, Thomson R, Banks A, Ring M, Foote SJ and Speed TP (2005). Identifying nineteenth century genealogical links from genotypes Human Genetics 117 (2-3): 188-199.
Rubio JP, Bahlo M, Tubridy N, Stankovich J, Burfoot R, Butzkueven H, Chapman C, Johnson LJ, Marriott M, Mraz G, Tait B, Wilkinson C, Taylor B, Speed TP, Foote SJ and Kilpatrick TJ. (2004) Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y in individuals with multiple sclerosis. Human Genetics 114: 573-580.
Rubio JP, Bahlo M, Butzkueven H, Van der Mei IAF, Sale MM, Dickinson JL, Groom P, Johnson LJ, Simmons RD, Tait B, Varney M, Taylor, B, Dwyer T, Williamson R, Gough NM, Kilpatrick TJ, Speed TP and Foote SJ (2002) Genetic dissection of the HLA region using haplotypes of Tasmanians with multiple sclerosis. Am J Hum Genet 70 (5):1125-1137.
Danek A, Rubio JP, Ho M, Stone C, Rampoldi L, Oechsner M, Kalckreuth W, Tison F, Watt J., Corbett AJ, Hamdalla HHM, Daniels G, Marshall AG, Sutton I, Dotti, MT, Federico A, Malandrini A, Fabrizi GM, Symmans WA, Chalmers R, Kumamoto T, Monaco AP (2001) McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50: 755-764.
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP (2001) A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001 Jun; 28(2): 119-20.
Rubio JP, Levy ER, Dobson-Stone C and Monaco AP (1999) Genomic organization of the human G14 and Gq genes and mutation analysis in Chorea-Acanthocytosis (CHAC). Genomics 57: 84-93.
Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance M, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh A, Farrall M and Monaco AP (1997) Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 61: 899-908.
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