Getting Answers: The Genomics of Rare Disease

We acknowledge the Traditional Owners and Custodians of the lands on which we work and pay our respects to Indigenous Elders past, present and emerging.
Enjoy an interactive seminar on one of Australia’s first direct-to-participant registries for rare disease genomics.
Associate Professor Owen Siggs outlines what makes this registry unique and why genomics has the potential to transform healthcare.
Dr Amali Mallawaarachchi presents on her experiences as a clinician and her studies on the molecular basis of polycystic kidney disease.
Pannel:
Associate Professor Owen Siggs is co-lead of Garvan’s Rare Disease Program. His interests lie in the genomic architecture of immune and ophthalmic disease and new genomic technologies. As a clinical scientist, he is actively engaged in the translation of these findings into clinical practice, particularly in the area of genomic risk prediction.
Dr Amali Mallawaarachchi is a clinical scientist whose current research focuses on understanding the molecular basis of polycystic kidney disease through the application of the latest sequencing technologies. Dr Mallawaarachchi shares her experiences as a clinician and researcher, including patient stories and her development of the world-first whole genome sequencing-based diagnostic test for Autosomal Dominant Polycystic Kidney Disease.