Scope of the China-Australia Centre for Personalised Immunology

The China-Australia CPI will operate simultaneously at the cutting-edge of biomedical research while implementing genomics into medical practice. We will tackle autoimmune and immune deficiency diseases, with the aim of discovering the molecular and cellular mechanisms of disease in both rare cases of Mendelian disease and common immune diseases. Whole genome sequencing will be central to discovery; the Centre has developed the necessary expertise in this domain (see below). The principal aim, however, is to discover disease pathways. This task is most achievable in Mendelian disease, but the greatest potential for clinical progress is to understand pathways to complex disease.

The China-Australia CPI platform comprises six modules encompassing detailed laboratory-based phenotyping (1), comprehensive identification and verification of rare and potentially causal variants (2), analysis of the biochemical and cellular consequences of the mutation (3), proof of causation by complementation of human cell lines, or by engineering the precise point mutation in mice using DNA editing techniques (CRISPR/Cas9) (4), identification of pathway biomarkers that can be applied to the disease cohort to identify subgroups affected by the same pathogenic route to disease (5), and testing of pathway-specific therapy in the newly-generated mouse models (6).