Rare Disease has been identified by the Global Alliance for Genomics and Health as one of two key areas where a collaborative data-sharing approach has the most immediate potential to directly benefit patients.

The Australian Genomics Flagship model is designed to drive our research into nationwide implementation of genomic testing, integrating with our four research programs as frameworks for translation.

Each Flagship project is underpinned by strong existing national and international clinical, diagnostic and research partnerships. The partnerships are supporting a ‘virtuous cycle’ of rapid translation and implementation through the exchange of information between clinicians and researchers to evaluate pathogenicity, gene discovery and the development of innovative diagnostic and treatment tools.