Searching for new clues in JIA

Wednesday, 9 Sep 2015

This week we speak to paediatric rheumatologist Jane Munro and Justine Ellis  Group Leader of the Genes, Environment & Complex Disease Research Group at Murdoch Childrens Research Institute about the search for their quest for the Holy Grail: to advance their knowledge of JIA risk factors to the point that personalised approaches to treatment could be applied in the clinic.

What’s the issue your research is trying to solve?

There is relatively little known about what causes juvenile idiopathic arthritis (JIA). Therefore, we are working towards understanding the risk factors that increase a child’s risk of developing JIA. These factors might be genetic or environmental, and they might interact with each other, perhaps manifesting as epigenetic changes. Through a greater understanding of underlying disease causes, we hope that the door will be opened to more targeted treatments, and maybe even some preventative measures.

What have you discovered so far?

In relation to genes, we were involved in a recent international collaborative effort led by the Children’s Hospital of Philadelphia. The study, published in Nature Medicine, identified the genetic overlaps between 10 paediatric immune disorders. Of the diseases studied, JIA was shown to be most genetically similar to common variable immunodeficiency disease (CVID), which provides new clues to disease aetiology. Additionally, three novel JIA susceptibility genes were discovered.

In relation to the environment, we recently published data in Arthritis and Rheumatology showing that being an only child increases risk of JIA. This is likely related to the ‘hygiene hypothesis’ whereby a cleaner early life environment increases risk of immune disorders.

What’s been your biggest hurdle?

Many of the research questions we would like to answer require a large case sample. There is a huge amount of goodwill in Australia, both from families of children with JIA, and from paediatric rheumatologists, to accelerate our research through expansion of recruitment nationwide. However, our biggest hurdle is accessing funding to make this happen.

How far is your work from impacting patient care?

Much of what we do falls into the ‘basic science’ basket, and as such, is not necessarily translatable in the short term. However, some aspects of what we do have considerable translational potential in the medium term. For example, we are working on a project that has t​he aim of finding out whether genome-wide genetic data can reliably distinguish a child with JIA from one without. If it can, this might be translatable as a genetic test for JIA. There are currently no diagnostic tests for this disease. This could have widespread application in both primary care and in rheumatology practice.

If you could discover one thing in your area of research, what would it be? (e.g what’s your Holy Grail!)

Our Holy Grail would be to advance our knowledge of JIA risk factors to the point that personalised approaches to treatment could be applied in the clinic. An ability to map the genetic and environmental profile that led to the development of JIA in each individual child would be enormously useful in determining the best approach to therapy, avoiding trial and error.​

Justin Ellis - Jane Munro

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