Improving genetic diagnosis of autoimmune and autoinflammatory disease through an integrated multi-omics approach

Autoimmune and autoinflammatory diseases (AADs) affect 1 in 20 people worldwide and are a leading cause of morbidity and death. However, despite the large genetic risk associated with AADs, the oligogenic basis of this risk has prevented researchers from identifying potential pathogenic variants for validation. This proposal therefore capitalises on our large existing cohort of AAD, our national collaboration of referring clinicians managing AAD, and scientists with expertise in pathogenic gene prediction, proteomics, transcriptomics, and cellular phenotyping to significantly accelerate the genetic diagnosis of AADs.