Cas completed a PhD in Genomics and Computational Biology at the University of Queensland, then led research teams at the university's Institute for Molecular Bioscience and at the Murdoch Children's Research Institute, investigating the genetic basis of rare and undiagnosed genetic disorders. As Rare Disease Program Lead at the Centre for Population Genomics, Cas has built the CaRDinal platform, national research infrastructure that brings together genomic data from thousands of individuals across dozens of Australian research cohorts, harmonised and jointly analysed to accelerate new diagnoses. Cas now leads CPG's development of agentic AI systems for rare-disease diagnosis, pairing expert curators with frontier AI models to gather evidence and reason about candidate variants, with the goal of shortening the diagnostic journey for families living with rare disease.
The Centre for Population Genomics is a joint national initiative of Garvan Institute of Medical Research and the Murdoch Children’s Research Institute. The Institutes are national leaders in genomic research, with complementary strengths spanning large-scale genomics, data science, population health, and clinical impact.
The Centre for Population Genomics values diversity in our team and our work. We believe that including all human diversity in genomic research will empower medical care that benefits everyone.
We pay our respect to all Aboriginal and Torres Strait Islander cultures and to their Elders past and present. We gratefully accept the invitation in the Uluru Statement from the Heart “to walk with us in a movement of the Australian people for a better future”.
