Mutations in the immune response pathways linked to autoimmune diseases

Satu Mustjoki and Mikko Tyster (University of Helsinki)

The study is focused on the autoimmune driven pathogenesis of certain hematological disorders, including LGL leukemia, aplastic anemia and hypoplastic myelodysplastic syndromes (hMDS). Mainly the project revolves around somatic mutations in immune pathways, but includes also the characterization of autoantibodies in patient plasma.

Inflammatory Bowel Disease Translational Genetics (IBD TransGen)

Samuli Ripatti (Institute for Molecular Medicine Finland FIMM and Broad Institute of MIT and Harvard)

The aim of the study is to build a large (10 000 individuals) Finnish Inflammatory bowel disease (IBD) resource and explore Finnish characteristics in IBD genetics in order to identify genetic risk factors and possible protecting mutations for IBD.

Inflammatory bowel disease (IBD) associated with primary sclerosing cholangitis (PSC)

Martti Färkkilä (HUS), Johanna Arola (HUS), Rauf Samaletdin (HUS), Vidya Velagaudi (FIMM)

The aim of the study is to characterize metabolomics, epigenetic and microbial differences of inflammatory bowel disease (IBD) associated with primary sclerosing cholangitis (PSC) before and after the diagnosis of PSC.

Skeletal manifestations and immune functions in APECED

Outi Mäkitie et al. (HUS)

APECED is a rare inherited autoimmune disease enriched in the Finnish population. Mutations of the AIRE gene lead to a production of autoreactive antibodies that cause varying disease manifestations like endocrinopathies, glomerulonephritis and malabsorption. Our preliminary results have shown an altered metabolism and structure of bone. To define in more detail the skeletal manifestations, we will evaluate bone, cartilage and bone marrow tissue samples. Patients with APECED have various immunological aberrancies in the lymphocyte populations of blood. To confirm the clinical significance of the findings, we will examine, if the same immunological disturbances are also observed in the periphery by staining tissue samples.