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Genetics of autoimmunity

Our goal is to identify molecular profiles and pathogenic cell phenotypes for autoimmune diseases and reveal biological signatures for treatment response.

We are using genetic and functional genomic approaches to understand the pathogenesis of autoimmune diseases (e.g. rheumatic diseases, type 1 diabetes, myasthenia gravis, narcolepsy) and diseases with putative autoimmune components (ME/CFS and low back pain with modic changes). 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 multiomics 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. 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. Functional genomic studies of chronic low back pain patients with modic changes and response to antibiotic treatment
  3. Characterizing immune cells in thymus by spatial transcriptomics and single cell sequencing including binding sites for transcription factors and profiling of tissue restricted antigens
  4. Multiomics and single cell sequencing of immune cells from blood and synovial fluid in rheumatoid arthritis and juvenile arthritis to characterize disease phenotypes and treatment response
  5. Identification of phenotype and treatment related alterations in extracellular vesicles and their RNA and protein cargo

 

 

Published Mar. 22, 2012 2:30 PM - Last modified June 19, 2023 1:02 PM

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