Åke Lernmark

Expert, Professor of Experimental Diabetes

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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.  A major effort to identify the trigger of beta cell autoimmunity is carried out in the TEDDY (The Environmental Determinants of Diabetes in the Young) study. A total of 2525 children in Skåne with increased genetic risk for autoimmune (type 1) diabetes were identified at birth (2004-2010) and then followed quarterly until four years of age and thereafter bi-annually until the children turn 15 years of age. TEDDY is supported by the National Institutes of Health (NIH) in the US and is conducted with three clinics in the US, Finland and Germany. In Skåne, we have TEDDY clinics in Malmö, Helsingborg and Kristianstad. 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. Studies are also conducted since birth in children born 2000-2004 in the Diabetes Prediction in Skåne (DiPiS) study. Research involves identification of and development of new assays for autoantibodies against novel autoantigens and autoantigen candidates.  Studies are conducted in patients with narcolepsy and their controls to identify autoantigens and explain the development of narcolepsy and vaccination with Pandemrix®. Studies on primary prevention is conducted in the GPPAD (Global Platform for the Prevention of Autoimmune Diabetes ) consortium and on secondary prevention in TrialNet for which we are the Swedish TrialNet Center. 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.

UKÄ subject classification

  • Medical and Health Sciences
  • Endocrinology and Diabetes

Free keywords

  • Autoimmune diabetes
  • Type 1 diabetes
  • Beta cell autoimmunity


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