Harry Perkins Institute of Medical Research and UWA
Perth, Australia
Country
Australia
Institution
Principal Research Fellow, University of Western Australia
Group Leader, Harry Perkins Institute of Medical Research
Visiting Fellow, The Garvan Institute
Education summary
I completed by BSc with Honours at the University of Western Australia in 2004, majoring in physiology. I then undertook a PhD which focused on phenotyping mouse models of ACTA1-related nemaline myopathy and conducting proof-of-concept studies to show that cardiac actin could functionally substitute for the absence of WT skeletal muscle alpha-actin or for the presence of mutant skeletal muscle alpha-actin. I completed my PhD in 2009 under supervision of E/Prof Nigel Laing, Dr Kristen Nowak and Dr Tony Bakker. In 2023 I was admitted into the Faculty of Science of The Royal College of Pathologists of Australasia (FFSc RCPA).
Career summary
I lead The Rare Disease Genetics and Functional Genomics Group at the Harry Perkins Institute of Medical Research and the University of Western Australia. The focus of my group and my career to date has been on addressing the grand challenges for those living with rare neuromuscular diseases: (1) identifying genetic causes of disease and (2) developing effective therapies. I have authored >140 publications with >5,000 citations and a H-index of 42, these include descriptions of 25 novel human disease genes. My research is highly collaborative as evidenced by >1,600 collaborators and I am committed to open science as evidenced by preprints.
In 2016 I was awarded the WMS Young Myologist of the Year, in 2021 I was named the WA BusinessNews Entrepreneur of the Year and cited as a "change maker" for my advocacy in the medical research sector, in 2023 I was awarded the Lorne Genome Mid-Career Researcher award and in 2024 I was named the WA Premier's Mid-Career Scientist.
I am a member of the Scientific Advisory Boards of AFBS and the FSHD Global Research Foundation. I am an active board member of the Asian Oceania Myology Center (AOMC) and the Australasian Neuromuscular Network (ANN).
I joined the WMS Scientific Programme Committee in 2022 and have Chaired this Committee since 2023. I am President of the National Association of Research Fellows (2021-) and served on the NHMRC Women in Health Sciences (WiHS) committee (2022-2024). I was the inaugural Chair of the Harry Perkins Institute EMCR committee (2021-2022) and a member of the Executive of the EMCR Forum of the Australian Academy of Science (2018-2019).
I am passionate about supporting women and mothers in science, gender equity, championing early- and mid-career researchers and leading with kindness.
What is the personal or professional achievement you’re most proud of?
I am most proud of my advocacy for women and mothers in science.
Through my advocacy via the Equity in Australian STEMM working group, as President of the National Association of Research Fellows and the NHMRC Women in Health Sciences (WiHS) committee, we were able to bring about a change to the NHMRC (the major national funding body of medical research in Australia) investigator grant scheme. Now the funding is split 50:50 between male and female applicants and applicants are awarded the same quantum of funding based on the level they apply at, prior to this, females received grants that were on average $500,000 less than their male counterparts (https://www.health.gov.au/ministers/the-hon-mark-butler-mp/media/working-towards-gender-equity-in-health-and-medical-research). More recently my advocacy has resulted in those with career disruptions and that work part-time (most often women with carer responsibilities) being able to extend their investigator grants by up to two years (pro-rata) - this means women are no longer forfeiting hard won funding when they choose to work part-time to balance their career and carer roles.
At the WMS I am also proud of achievements around gender equity at the annual Congress. An audit I conducted found that between 2015-2021, less than 25% of invited speakers were female. We now have gender parity in terms of invited speakers at all Congresses (2022 onwards). We have also had far greater representation at the WMS congresses than ever before with greater diversity of career stages and geographical spread represented within invited speakers, speakers selected for short orals and session chairs. This increased diversity is visible at the WMS Congresses, and I have been heartened to hear from many members and attendees how much of a difference this has made and how this has changed the feel of the annual Congresses, that they now feel the WMS represents them.
Why did you first join the WMS?
I first joint the WMS in 2009 as a PhD student and attended my first Congress in Taormina, Sicily. Since then, I have attended meetings in Algarve 2011, Perth 2012, Berlin 2014 (with a 4-month-old!), Granada 2016, Copenhagen 2019 (with a 5- and a 2-year-old!), online meetings in 2020-2021, Halifax 2022, Charleston 2023 and Prague 2024 (with a 10- and 7-year-old).
I am a basic scientist, I trained in physiology and then later in genetics, I joined the WMS because it bridges basic science and clinical work, and my research is very much at the translational edge of basic science.
I was also encouraged to join by my then supervisor and mentor E/Prof Nigel Laing and really felt very welcomed by the Society and the WMS 'family'. I very much appreciated, after reading Victor Dubowitz's memoir, what he was trying to achieve with the WMS - how it was different to the more established societies and meetings - with a focus on supporting emerging myologists and more junior researchers, and also of trying to ensure that the WMS community stayed connected during the congress via the social activities.
What is your goal in joining the Executive Board?
I have served one term on the WMS Executive Board, during this time we have seen tremendous steps towards greater equity, inclusivity and transparency at the WMS. During this time, I have also served as Chair of the Scientific Programme Committee (SPC) for the annual WMS Congress. Since first becoming involved with the WMS SPC, we have achieved gender balance for the first time in terms of invited speakers and have had greater representation in terms of geographical spread and career stage for speakers and session chairs. I would love to continue this work we have started as a Board and Scientific Programme Committee. I would very much like to champion the activities we are working on towards greater support of myologists in under-represented regions and of early-and mid-career myologists, and to continue to work with the relevant sub-committees to ensure the success of these exciting new initiatives. I would also love to continue to represent the Asian-Oceania region and basic/fundamental scientists at the WMS Board level and on the scientific programme committee.
I would like to lead the establishment of a “women of the WMS” group to provide peer support to women within the WMS and the myology community. Such groups exist within other learned societies, we can learn from them how best to establish such a group within the WMS.
