BBB seminar: Pål Rasmus Njølstad

Pål Rasmus Njølstad
Department of Clinical Science, University of Bergen

There are today more than 500 genetic loci associated with type 1 or type 2 diabetes. Although individual variants typically have only a modest effect on risk, when combined into a polygenic score, they offer increasing power to capture information on individual patterns of disease predisposition with the potential to influence clinical management. In pediatric diabetes care, it is important to recognize monogenic forms of diabetes among subjects with common type 1 and type 2 diabetes. Monogenic diabetes subtypes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageous. There are clinical challenges to this end, including improving case-finding strategies, and understanding the interpretation of genetic variants as pathogenic, with clinically meaningful impacts. The main application of precision medicine is in the use of sulfonylurea agents in neonatal diabetes caused by mutations in K-ATP channel components and MODY (maturity-onset diabetes of the young) due to mutations in HN1A and HNF4A. These precision-based treatments not only achieve improved quality of life but also better glycemic control, and are important for precise genetic counselling and prediction of the development of complications.

Chairperson: Jaakko Saraste, Department of Biomedicine