Our immune system, responsible for defending us against harmful pathogens such as bacteria and viruses, can sometimes turn on us. It may mistake components of our own cells for foreign invaders, or react too zealously against perceived threats, causing significant collateral damage to our own tissues and organs. The resulting autoimmunity and systemic autoinflammation can be devastating. On the flip side, inadequate surveillance or responsiveness of the immune system to abnormal ‘self’ cells can allow for the unchecked growth of cancers.
Our laboratory explores genetic factors, whether inherited (germline variants) or acquired (somatic mutations in certain cell-types or tissues), that contribute to such immune imbalances. We also study the molecular and cellular characteristics that determine how resilient a given organ or system is to the resulting damage. Our research is rooted in the analysis of tissue or blood samples generously provided by patients with autoimmune and autoinflammatory disorders such as systemic sclerosis (SSc), lupus nephritis (LN) and inborn errors of immunity (IEI), and immune cell cancers sometimes associated with such conditions. This would be impossible without a close, active collaboration with a network of rheumatologists and haematologists with extensive expertise in these complex conditions, invested in using translational research to continually improve patient care. By understanding not only the genetic factors that initiate disease, but also the cellular and molecular determinants of disease progression and treatment-response, we aim to contribute to the diagnosis, prognosis and treatment of these conditions.