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.
Our research strategy is focused on improving the understanding of biological pathways and pathogenic mechanisms behind common and rare immune diseases, especially multiple sclerosis (MS) and primary immune deficiencies (PIDD). To further the understanding of MS through the analysis of the genetic mechanisms that underlie the disease, we aim to identify novel predisposing genes and functional variants within the identified regions by genome wide analyses of large international cohorts, and by targeted resequencing of the unique familial samples, originating from a high-risk MS subisolate of Southern Ostrobothnia with increased prevalence and familial occurrence of the disease. The impact of the identified genetic variants will be further characterized in the Finnish population cohorts.