Neurogenetics Laboratory
- Dr Judith Field is researching the genetic aspects of MS.
Laboratory Head
Dr Justin P Rubio BSc (Hons) PhD (Melb)
Contact Details
Email: | |
Phone: | +61 (0)3 8344 6386 |
Fax: | +61 (0)3 9348 170 |
Number of
Staff: 4
Students: 1
Research Interests
The Neurogenetics group, led by Dr Justin Rubio, has a range of interests pertaining to the investigation of the genetic basis of human neurological disease:
- Using and developing the latest genetic tools and gene mapping methods to identify genetic mutations and novel gene loci that either influence disease susceptibility or other aspects of the disease phenotype (eg. severity).
- Investigating the relationship between genetic variation and disease-causing genetic mutations and gene expression in cell-based systems.
Current Projects
Dr Rubio is currently conducting genetic research into multiple sclerosis (MS) and Parkinson’s disease.
In collaboration with Professor Trevor Kilpatrick (Head of the MS Group), Dr Rubio has established a MS DNA Bank at the Florey containing DNA samples for over 1,000 Victorians with MS and their family members. These genetic samples have been used to map genes for MS in a region of the human genome called the human leukocyte antigen (HLA) complex. An aspect of the laboratory’s work is to investigate specific genes that have been identified as having a potential role in both disease susceptibility and the clinical course of MS. Our challenge is to find out how these genes might be important in MS, so studying their function in the relevant tissue is paramount. On that basis we are investigating the gene’s expression in immune cells collected from MS patients and post-mortem human brain samples donated by people with MS to establish the link between disease-associated genetic changes and gene function.
A further aspect of the group’s work is to find new genes for MS and in this regard we have joined forces with other groups in Melbourne, Sydney, Brisbane, Hobart and Newcastle to conduct a complete scan of the entire human genome for genes the affect the clinical course of MS. This project will involve genotyping 1,000 DNA samples with 300,000 genetic markers (SNPs) and has the financial backing of MS Research Australia.
In collaboration with Professor Malcolm Horne (Head of The Brain Injury and Repair Group) and The Menzies Research Institute in Hobart, Dr Rubio has established a DNA bank containing 500 DNA samples from people with Parkinson’s disease (PD) at HFI. Seven disease genes have already been identified for PD and a major aim of our group is to identify new disease genes by genetic mapping in people who have a family history of PD. A further goal is to study how disease-causing genetic mutations in the known PD genes influence their expression and function. For this component of our research we have designed the PDGene Chip, a novel diagnostic and research tool for 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
Funding
- NHMRC Career Development Award (R.D. Wright Fellowship): “Identification and analysis of genes in the HLA complex that predispose to MS” Rubio JP (2005-2009)
- Australian Brain Foundation: “Identification of mutations in Parkinson’s disease genes using a PD Gene Sequencing Chip” Rubio JP, Horne MH, Cowie TF (2006)
- The Rebecca Cooper Medical Research Foundation: “A cutting-edge diagnostic tool for Parkinson’s disease” Rubio JP (2006)
Research
