Antibodies for a faster diagnosis of small vessel vasculitis and anti-GBM disease
Juuso Rusanen and Klaus Hedman (Helsingin yliopisto, Virologian osasto)
Small vessel vasculitis and anti-GBM disease are autoimmune diseases that display in their severe, life-threatening forms rapidly progressive renal failure and pulmonary haemorrhage. Such symptoms require on-call diagnostics and treatment. The identification of disease-specific antibodies in a patient's bloodstream is central to the diagnosis of both small vessel vasculitis and anti-GBM.
Our goal is to develop faster and simpler methods for the detection of the disease-specific antibodies in patients with blood vessel inflammations and Goodpasture syndrome. New, faster methods may allow faster diagnosis and targeted treatment of these diseases, which may help to achieve a favorable treatment response. In our study, we use blood samples deposited in Helsinki Biobank to set up the new assay.
Follicular T-cells in MS
Joona Sarkkinen and Eliisa Kekäläinen (Helsingin yliopisto)
Multiple Sclerosis (MS) is the most common disease against central nervous system. Etiology of this demyelinating disease is still unknown and the prediction of the clinical picture is impossible. Latest MS drugs have turned out to be efficient since they regulate especially lymphocyte population called B cells. In lymph nodes developing B cells are an interesting subject of MS pathogenesis. We will study biobank stored lymph nodes of MS patients to find new insight for this chronic disease.
The development of t-lymphocytes in the thymus
Joona Sarkkinen and Eliisa Kekäläinen (Helsingin Yliopisto)
Several autoimmune diseases exhibit autoantibodies i.e. antibodies against own antigens. Antibodies are usually produced in lymph node´s germinal centers whereas in autoimmune diseases germinal centers can also develop outside lymph nodes. In this research project we focus on rare neurological disease called myasthenia gravis where developing autoantibodies cause severe muscle weakness. In this disease germinal centers are formed in the thymus and removal of the thymus often ameliorates the disease symptoms. In our project we use biobank stored thymic tissues which are removed because of the disease to investigate how the germinal centers produce autoantibodies.
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.