We are using genetic and functional genomic approaches to understand the pathogenesis of autoimmune diseases (e.g. rheumatic diseases, myasthenia gravis, narcolepsy) and diseases with putative autoimmune components (ME/CFS). Since the genetic background for autoimmune diseases to a large extent is shared across the diseases, we both address basic mechanisms leading to central loss of self-tolerance, and take advantage of knowledge from established autoimmune diseases to investigate less studied phenotypes. Within the research group, we have projects aiming to identify distinct molecular signatures and pathogenic cell types in selected diseases, as well as projects unravelling the cellular profiles of the thymus, i.e. the site for maturation of self-tolerant T cells.

Our close collaboration with clinicians, secures access to large and well-characterized patient cohorts being followed up regarding treatment outcome and clinical progression. We undertake a multi-omics approach studying DNA risk variants, epigenetic markers, RNA expression levels, and proteins in both immune cells from blood and target tissues, e.g. thymus, synovial fluid and tissue. The molecular signatures are characterised both in bulk cell populations as well as in single cells utilizing high throughput sequencing. Spatial transcriptomics are used to find the location of cells in the tissue and explore putative cell-cell interactions. Furthermore, we are exploring the role of extracellular vesicles, and their molecular cargo, which is importance in cell communications and may be altered in disease states. Increased knowledge on multiple biological levels is crucial to drive the understanding of complex diseases forward and to enable future precision medicine.

Projects

  1. Immunogenetic studies in autoimmune diseases and ME/CFS (project group of Marte Viken).
  2. Characterizing immune cells in myasthenia gravis thymus by spatial transcriptomics and single cell sequencing to find pathogenic cell states and signatures for thymectomy outcome.
  3. Multiomics and single cell sequencing of immune cells from blood and synovial fluid, complemented with spatial transcriptomics of synovial tissue microenvironment, in rheumatoid arthritis and juvenile arthritis to characterize disease phenotypes and treatment response.
  4. Identification of phenotype- and treatment-related alterations in extracellular vesicles and their RNA and protein cargo in rheumatic diseases.