1). Please tell us a little about yourself
I am fascinated by animals and nature and can’t wait to go on a wildlife safari with my family when my kids get a little bit older. So far (and before kids) our travels have brought us up and close to many amazing animals including a hippopotamus in Botswana who did not want us to launch our mokoro (canoe) in its waterhole and a one-horned rhino peacefully grazing on the floodplains of the Kaziranga National Park in India. Spotting Australia’s own native fauna in their natural habitat is also very special, as is going on walks with our adorable pet groodle, Olly.
2). What is your research on?
My research is focused on better understanding the interaction between genetic and environmental risk factors for autoimmune diseases. The diseases I mainly focus on are Multiple Sclerosis (MS) and Systemic Lupus Erythematosus (SLE) and the environmental risk factors I investigate are vitamin D deficiency and Epstein-Barr virus (EBV). My research is conducted using blood samples collected from patients and also healthy volunteers and utilises genomic, epigenetic and transcriptomic techniques, generating lots of data which requires complex bioinformatics pipelines for analysis. For example we characterise the immune response to vitamin D using RNAseq on immune cells treated with different doses/analogues of vitamin D and identify the human genes regulated by EBV encoded transcription factors by infecting human B cells with EBV and identifying transcription factor binding sites using ChIPseq/CUT and RUN.
3). What are the real-world consequences of your research?
The environmental and genetic risk factors for autoimmune diseases are strong statistical associations, but the biological mechanisms underlying/driving these associations are yet to be clearly defined. A better understanding of the interplay between these risk factors and the biological mechanisms driving disease pathogenesis will help in developing new therapies, identifying new biomarkers for diagnosis/response or failure of treatment, selecting the optimal therapy from a list of options for each patient, and ultimately reveal how these devastating illnesses can be cured or even prevented in the first place.
4). What does digital health mean to you?
We know in all aspects of life, especially in medicine and health, no two individuals are the same. This means that for advances in medical practice, well defined and deeply phenotyped clinical cohorts are critical. Whilst there are important ethical and considerations that need to be carefully navigated, advances in technology have made the digitisation and ease of access to patient data a powerful tool in in the direct management and treatment of patients but also in prospective and retrospective clinical studies. An excellent example of this in the field of multiple sclerosis is MSBase, an international collaboration curating a registry of over 52,000 MS patient records across 33 countries. This registry has led to over 65 peer-reviewed publications related to multiple sclerosis patient response to disease modifying therapies on a scale that would not be possible on single centre studies. The identification of over 230 genetic variants associated with risk of Multiple Sclerosis was enabled by a worldwide effort by the International Multiple Sclerosis Genetics Consortium (of which our lab continues to be closely involved with) which together recruited over 47,000 MS cases and 68,000 controls in the largest genome wide association study meta-analysis conducted for multiple sclerosis to date. Another example that many of you will already be familiar with and even utilising in your own research is the UK biobank, a resource of medical and genetic data from over 500,000 patients that is available to accredited researchers world-wide. Additional large scale collaborative efforts such as this will enable further acceleration of improvement in global health outcomes.
5). Do you have any resources or links you would like to share?
Sydney University Profile: https://www.sydney.edu.au/medicine-health/about/our-people/academic-staff/grant-parnell.html
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