SysGen Seminar – Justin Rubio – 25th November, 2016

Exploring the role of somatic mutation in progressive multiple sclerosis

Associate Professor Justin Rubio
Florey Institute of Neuroscience and Mental Health, UoM
Associate Member, Centre for Systems Genomics
Friday 25th November
ESJ King Theatre, Medical Building, The University of Melbourne
Multiple sclerosis (MS) is the most common neurodegenerative disease in young adults, affecting over 20,000 people in Australia and 2-3 million globally. In MS, immune cells mount an inappropriate (autoimmune) response to myelin, the fatty substance that wraps around neurons in the brain thereby facilitating transmission of electrical signals. This neuro-inflammation can damage and destroy the cells that make myelin  (oligodendrocytes) and also the neurons themselves.
Currently, all approved therapies for MS target the immune system, but there are no treatments available that can promote myelin repair or regeneration. This means that most MS patients will ultimately end up with progressive MS, which is characterised by neurodegeneration and significant disability. Knowing what genes and pathways are involved in progressive MS could help to identify therapeutic targets for regenerative medicines.
Over the last decade, MS GWAS have identified >100 genetic susceptibility loci, but stratification of patients based on phenotype has not produced any convincing associations with disease severity or progressive MS. So, while results from MS GWAS appear to be suggesting that susceptibility is primarily driven by dysregulation of the immune system, it is reasonable postulate that the genetic aetiology of neurodegeneration and progressive MS may be different.
We propose a novel genetic hypothesis to explain progressive MS, which implicates somatic mutation in neural cells as the basis for functional decline and accumulating disability. In this seminar, I will describe the reasoning behind this hypothesis and work underway to determine its validity.
Associate Professor Rubio has a joint appointment in human genetics at University of Melbourne (Department of Pathology) and Florey Institute of Neuroscience and Mental Health. He is also currently Chair of the ANZgene MS Genetics Consortium and Co-Chair of the local organising committee for the GeneMappers 2017 Conference.

Enquiries: Andrew Siebel (