Human Immune Disorders
The human immune system is a complex and sophisticated system, which has a simple, yet very important mission: to seek and kill attackers. While defective immune system, severe combined immunodeficiency and a lack of immune system cells cause life-threatening diseases, other immune disorders result from either an excessive immune response or an "autoimmune attack". The same genes are frequently associated with multiple autoimmune diseases and some of them are also known to cause immune deficiencies.
My research focuses on improving the understanding of biological pathways and pathogenic mechanisms behind rare and common immune diseases, especially primary immune deficiencies and multiple sclerosis, and utilizing the new knowledge to the benefit of the patients. To further the understanding of immune deficiencies and dysregulation that underlie the rare immune diseases, we focus on identifying novel causative genes for the rare disorders in the founder population of Finns and study the functional consequences of the identified gene defects. We have recently shown that dysregulation of the two key immunological pathways, the STAT3 and NFKB1 pathways, cause severe human diseases presenting with immune dysregulation and immunodeficiency.
In our long-term scientific collaboration with the international MS Genetics Consortium and the Nordic MS Genetics network we have built a comprehensive picture of the genetic landscape of one common autoimmune disease, Multiple Sclerosis. Our ongoing EU project, MultipleMS, aims at developing novel personalised medicine approaches for MS patients by combining the genetic data with multi-omics, clinical, imaging, lifestyle, and DMT response data. We are utilizing the publicly available large scale multi-omics data, in particular high-resolution maps of immune cells, in combination with multi-omics data from MS patients to identify the biological pathways underlying stratified patient populations.