Our research is focused on understanding the genetic and functional mechanisms of autoimmune diseases (including rheumatoid arthritis, juvenile idiopathic arthritis, narcolepsy and myasthenia gravis) and CFS/ME, a disease with a putative autoimmune component. Our studies span DNA, RNA, epigenetics, proteins and cells. We investigate large and well-characterized patient cohorts to unravel molecular signatures for disease development, as well as for predicting treatment and clinical outcome. Importantly, we are trying to understand the immune dysregulation taking place in these diseases at a single cell and spatial level by studying target tissues followed by investigations in blood to find potential biomarkers. Additionally, we are exploring extracellular vesicles and their cargo, as these are important in cell-cell communication. Our overarching goal is to find molecular signatures being clinically useful, as well as uncover novel treatment targets.

Photos: Bård Gudim AS

• Immunogenetic studies of ME/CFS and autoimmune diseases with particular focus on HLA and KIR genes
• Single cell profiling of immune cells in thymus to understand the establishment of self-tolerance and development of myasthenia gravis
• Single immune cell phenotyping of blood and cerebrospinal fluid in ME/CFS and narcolepsy
• Multiomic studies of immune cells with regards to disease activity and treatment response in rheumatoid arthritis and other autoimmune phenotypes
• Exploring the phenotype of the immunological cells infiltrating the joint tissue and synovial fluid of the juvenile idiopathic arthritis patients by single cell technologies 
• Characterizing extracellular vesicles and their protein cargo in immunological diseases
• Revealing biomarkers in blood for autoimmune diseases and treatment response

Contact information:
Group Leader Benedicte A. Lie, Department of Medical Genetics, Tel: +47 23 01 66 46
E-mail: b.a.lie@medisin.uio.no