A/Prof Justin Rubio
Justin Rubio

Neurogenetics Laboratory

In Neurogenetics we aim to characterise the role of genes in human brain diseases with a view to improving biological and mechanistic understanding, thus facilitating the development of better therapies.

Multiple sclerosis (MS) is an area of research focus, with current work focussing on the role of genomic mutation in brain cells on disease development and progression.

A further aspect of our research seeks to leverage human neural induced-pluripotent stem cells to explore the functional basis of gene-to-disease associations.

A glimpse at our research

Next generation sequencing in multiple sclerosis

Multiple Sclerosis

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS), and is a common cause of neurological disability, affecting over 2 million people worldwide, including over 21,000 people in Australia.

The primary target of attack in MS is the oligodendrocyte, and the myelin produced by these cells. The loss of myelin ensheathing axons, a process known as demyelination, impairs nerve function by slowing and disrupting electrical impulses, as well as by exposing axons to further inflammatory attack. Following a demyelinating event some spontaneous remyelination occurs but it is often incomplete, and as the disease progresses remyelination fails, ultimately leading to the degeneration of exposed axons.

There is an emerging consensus that the progression of disability in MS correlates with the accumulation of axonal degeneration, which in turn is influenced by the extent of demyelination and the loss of oligodendrocytes. Current MS therapies, however, are anti-inflammatory, suppressing the immune response, and although efficient in limiting the relapses that characterise the early phase of MS, they do not prevent patients from entering the secondary progressive phase of the disease, for which no treatments are available.

The emphasis of our collective work is therefore to make fundamental discoveries concerning the molecular pathogenesis of progressive MS. From these studies we aim to identify and validate molecular targets to enable the development of diagnostic agents for detection of subclinical progression and of therapeutics to potentiate remyelination thereby inhibiting disability progression.

All Labs that operate in this Division

Neurogenetics LaboratoryNeuroimmunology and Remyelination Laboratory