Genomics and transcriptomics of auto-immune and autoinflammatory conditions
In this scientific research project we aim to help a group of patients with rare auto-immune and auto-inflamatory conditions by unravelling the pathogenic mutation underlying their disease. These patients may suffer from recurrent fevers, severe arthritis and generalized illness. We will do this by first implementing a screening assay which identifies a rare group of disorders, called interferonopathies. Second, patients identified in this way will undergo genetic testing. The ultimate potential research outcomes are tremendous. First by identifying patients with interferon signature, we can offer treatment with specific inhibitors of this pathway. Second, the established screening assay will also be useful for patients with a gene variant for which the pathogenic significance is still undetermined. Third, as we study novel genes and pathways, we will learn more about immunology in general and may be able to identify novel drugable target molecules. Finally, as we will be studying secluded populations, this may also lead us to identify founder mutations that are pathogenic. This research project will lead to further collaborations between the Flemish and Russian host laboratory.