Professor Gina Ravenscroft Appointed Inaugural Dr Patricia Kailis Chair in Rare Diseases at UWA
核心洞察
Professor Gina Ravenscroft, an internationally recognised leader in rare neuromuscular disease genomics, has been appointed the inaugural Dr Patricia Kailis Chair in Rare Diseases at The University of Western Australia.
The endowed chair is jointly funded by the Harry Perkins Institute of Medical Research (搜索), the Stan Perron Charitable Foundation (搜索), and UWA, representing the largest per-capita commitment to rare diseases globally.
The position forms part of the WA Rare Care Comprehensive Centre and aims to accelerate genetic diagnosis and the development of personalised treatments for rare diseases.
Internationally recognised leader in rare neuromuscular disease research Professor Gina Ravenscroft has been appointed the inaugural Dr Patricia Kailis Chair in Rare Diseases at The University of Western Australia (UWA), as part of the WA Rare Care Comprehensive Centre. The endowed chair, jointly funded by the Harry Perkins Institute of Medical Research (搜索), the Stan Perron Charitable Foundation (搜索) and UWA, aims to improve the lives of families and children impacted by rare diseases.
The appointment represents the culmination of a 25-year journey at UWA for Professor Ravenscroft, who began as an undergraduate in 2001 and has since become a globally recognised leader in rare disease genomics and neuromuscular disorders. "I am incredibly grateful to the Kailis family and all supporters of the Kailis fellowship at the Perkins, the Stan Perron Charitable Foundation (搜索) and UWA for their vision in establishing this position and for their trust in me as the inaugural Dr Patricia Kailis Chair in Rare Diseases," Professor Ravenscroft said.
Honouring a Pioneering Legacy
The chair is named after the late Dr Patricia Verne Kailis AM OBE, a pioneer of world-first, groundbreaking research on genetic diseases and the mapping of debilitating diseases such as Duchenne Muscular Dystrophy (搜索). Her work provided vital answers and information for Western Australian families planning to have children. The establishment of the Dr Patricia Kailis Chair in Rare Diseases will honour Dr Kailis's legacy through an enduring investment in rare disease research, genetics, discovery and translational impact.
"It is a huge honour to follow in the footsteps of such a remarkable and pioneering woman, and to continue her work to provide answers to families affected by rare diseases," Professor Ravenscroft said.
A Vision for Integrated Rare Disease Care
Professor Ravenscroft, who was appointed Group Leader at the Perkins in 2020, leads work focused on mapping and identifying the genes that cause rare diseases, particularly neuromuscular diseases, while also developing targeted therapies. She described the field as "incredibly collaborative," noting that solving rare diseases requires researchers, clinicians and families to work together.
As Lead of the Discovery Enabled Diagnostics Flagship within the Rare Care Comprehensive Centre, Professor Ravenscroft hopes to bring together clinicians, researchers and the rare disease community to grow the ecosystem, "so that Western Australia becomes a global model for integrated rare disease care and research."
The chair provides long-term stability that, according to Professor Ravenscroft, "ensures timely and accurate genetic diagnoses for all patients while accelerating the development of treatments." She also emphasised her commitment to supporting students and early- and mid-career researchers.
Philanthropic Investment and Global Significance
The generous support of the Stan Perron Charitable Foundation (搜索) creates opportunities to build local partnerships and capacity, complementing national funding schemes that often prioritise large interstate and international collaborations. Professor Ravenscroft noted that "this investment represents the largest per-capita commitment to rare diseases anywhere in the world."
UWA Deputy Vice-Chancellor (Research) Professor Anna Nowak welcomed the appointment, stating that "Professor Ravenscroft has made some globally significant discoveries, and her groundbreaking research continues to pave the way for new treatments."
Professor Peter Leedman AO, CEO of the Perkins, said the appointment strengthened the institute's commitment to rare disease research, deepening collaboration across the sector and enhancing global standing in the field. "Most importantly, it will help drive real impact for individuals and families living with rare diseases and will enable Gina and her team to continue the relentless hunt for rare disease genes, in memory of Dr Kailis," Professor Leedman said.
Moving Toward Personalised Treatments
Professor Ravenscroft expressed optimism about the trajectory of the field, describing an "exciting inflection point" moving beyond diagnosis and towards personalised treatments and medicines. "Recent advances, such as successful personalised CRISPR-based therapies, show what is now possible. This gives me great hope for what lies ahead," she said.
She also highlighted the role of families, who "advocate tirelessly for their children while navigating extraordinary challenges, leading the charge to come up with innovative ways of partnering with researchers and advocacy groups to develop, fund and administer personalised treatments."