Forskningsanslag för att försöka lösa diabetesgåtan

The immune genetics of the aetiology and pathogenesis of autoimmune (type 1) diabetes and associated organs-specific autoimmune disorders including celiac disease and narcolepsy are not fully understood. Our research is focused on the
role of HLA and non-HLA genes in the etiology and pathogenesis with particular emphasis to uncover the importance of beta cell autoantigens such as GAD65, insulin, IA-2, ZnT8, INS-IGF2 and tetraspanin 7. Humoral and cellular studies are conducted first to detect a trigger that will induce beta cell autoimmunity in children at increased genetic risk. Major observations suggest that the association between HLA and autoimmune (type 1) diabetes is secondary to the first appearing autoantibody be it against insulin in children with HLA DR4-DQ8 or GAD65 in children with HLA DR3-DQ2. Research involves identification of and development of new assays for autoantibodies against novel
autoantigens and autoantigen candidates. Clinical trials such as the TEDDY Family (TEFA) study is conducted with support from the Juvenile Diabetes Research Foundation (JDRF). The BB rat is investigated to clarify monogenic type 1 diabetes due to a frameshift mutation in the Gimap5 gene, which is coding for an anti-apoptopic protein. Overall the research aim at the prediction and prevention primarily of autoimmune (type 1) diabetes by combining screening for HLA and non-HLA genes to identify subjects at risk and to measure and develop tests for beta cell autoimmunity and to carry out primary and secondary prevention trials eventually to prevent and thereby cure autoimmune (type 1) diabetes.