Sydney Children's Hospital and The University of New South Wales
Education summary
Bachelor of Medical Science (Honours Class 1): The University of Sydney
Bachelor of Medicine and Surgery (Honours): The University of Sydney
Fellowship: The Royal Australasian College of Physicians (FRACP)
PhD: The University of Sydney
Career summary
I am a practicing clinical geneticist and clinician scientist with both undergraduate medical and science degrees, subspecialty clinical genetics qualifications and a PhD (awarded 2015). I have well over two decades of clinical as well as research experience. I also teach widely in the genetics education space (undergraduates, professionals).
Following completion of my PhD, I was awarded an Australian NHMRC clinical early career neuromuscular diagnostic/gene discovery-focused fellowship. The overseas leg of this fellowship (2016-2017) was undertaken with Professor Francesco Muntoni in London. At the end of 2017 I returned to Australia to begin my own research group.
During my PhD and NHMRC ECR fellowship I contributed to over 70 new genetic diagnoses and the identification of several new genetic disorders, including BICD2-SMA (SMA with lower extremity predominance: SMALED) and SCN4A–myopathy. I was also awarded 12 prizes, fellowships and scholarships, including The University of Sydney Medal for Excellence in Medical Research, Deans Prize for Best Sydney Medical School Research Student Publication, and a Winston Churchill Memorial Trust Travelling Fellowship (UK, Netherlands, USA).
I am currently lead PI for two large national multi-institutional Australian MRFF-funded (> 5.5 million AUD) projects aimed at increasing genetic diagnosis rates for individuals and families impacted by childhood-onset neuromuscular disorders and genetic rhabdomyolysis. I also have a particular interest in recessive titinopathy, which has recently emerged as one of the most common causes of childhood-onset muscle disease, and I am the lead PI for a project aimed at developing genetic therapies for this condition.
What is the personal or professional achievement you’re most proud of?
Starting my own neuromuscular diagnostic/gene discovery/treatment development research group (The University of New South Wales Medical Genomics Team) while remaining clinically active - and also teaching (Medical and Science students). It has been quite the juggle but we continue to grow and, together, my team and I have made some incredible discoveries. We have also supported numerous students to explore and grow their own research potential. I am also very proud of completing a trek to Mt Everest Base camp a few years back!
Why did you first join the WMS?
I was encouraged to submit an abstract for the WMS Congress during the final year of my clinical genetics subspecialty training in 2009. This resulted in my attending my first WMS Congress in Geneva (2009) where I was awarded the Lea Rose Prize for my presentation. I absolutely loved attending that Congress, learnt so much, met so many incredible people and wanted to continue to be a part of WMS. I have maintained my membership from that year onwards.
What is your goal in joining the Executive Board?
I have met so many amazing friends and colleagues through WMS. It has fostered many fruitful research and clinical collaborations and I have learnt so much from my WMS colleagues. I would really like to contribute to further growing and supporting the WMS, which is why I am keen to join the Executive Board. I have a particular interest in genetic education, supporting early to mid-career researchers and in growing diagnostic, gene discovery and treatment development endeavors internationally - particularly expanding our ability to work collaboratively to identify treatment-targetable genetic variants and disorders and directing those variants/disorders towards projects aimed at developing those treatments. I feel that the WMS is really well placed to foster and grow those opportunities on an international scale and I am keen to actively contribute to those efforts.
