New mechanisms of auto inflammatory disease

Mutations in innate immune genes can cause inherited inflammatory diseases (autoinflammatory diseases), which are the focus for the Masters laboratory. This work involves identifying and validating the functional significance of novel genetic variants, and the pathways in which they fall. One particular pathway of interest is the inflammasome, with recent findings showing how mutations in the Pyrin inflammasome cause Pyrin Associated Autoinflammation with Neutrophilic Dermatosis (PAAND). Related work studied mutations in the NLRP1 and NLRP3 inflammasomes, and observations from these rare diseases was extended to the analysis of common diseases such as obesity/type 2 diabetes and inflammatory bowel disease. This work provides therapeutic outcomes for patients with severe autoinflammatory disease, and shows how innate immune pathways influence common inflammatory diseases.