1/ Investigation of new genes causing disease in children diagnosed with autoimmune/autoinflammation disorders. 2/ Systems immunology to assess adverse side effect after immunotherapy.

Project 1. Despite the regular identification of new genes responsible for autoimmune and inflammatory diseases, immune disorders remain severely underdiagnosed. Starting with next-generation sequencing though whole exome sequencing to determine the genetic defect, our group is using different approaches including to immunophenotyping, transcriptomics and systems immunology bioinformatics, to investigate in-depth the immune defect and mechanism of the disease of patient affected with a severe immunological disorder. Patients are recruited through the pediatric rheumatology clinics in UZ Leuven and parallel whole exome/genome sequencing and immunophenotyping is performed using trio-family in order to identify a candidate gene. Once identified, further functional validation tests are performed to confirm the role of the mutated gene in the patient immune phenotype.Project 2. Cancer treatment has recently regained interest with the emergence of immunotherapy. This treatment enhances the immune system to fight against cancer cells and has shown efficiency in patient with advanced disease. While boosting the immune system against the cancer, this therapy can also overall activate the immune system which will trigger inflammation and autoimmunity as a side effect. To date, very little is known on the immune mechanism causing these side effects. In this project, we seek to determine the cause of these side effects using advanced technology to identify the immunological response of patient treated with immunotherapy. We will also use machine learning to predict which individuals will show efficacious responses and which ones will more likely develop side effects.

Keywords:Immune disorders, Autoimmunity, Autoinflammation, Genetics, Systems immunology, Immunotherapy

Disciplines:Autoimmunity, Immunogenetics, Inflammation, Cancer therapy, Systems biology not elsewhere classified