FINNMODY - monogenic diabetes in Finland

FINNMODY - monogenic diabetes in Finland: a specific subproject on RFX6 and its clinical features and implications

Most diabetes has no single cause. These common forms are known as type 1 and type 2 diabetes. Monogenic diabetes, in contrast, is a rare form of diabetes caused by a change in a single gene. In the FINNMODY study, we study monogenic diabetes in Finland by identifying affected individuals and families and improving understanding of these rare conditions. A gene called RFX6 has been linked to monogenic diabetes, but also to common type 2 diabetes. This makes RFX6 an interesting gene to study, as it may help explain shared biological mechanisms between rare and common forms of diabetes.

In the current core project of the FINNMODY study, we are assessing how rare gene defects in RFX6 affect the secretion of insulin and glucagon in people who carry these variants. These hormones play a central role in glucose regulation and are central players in type 2 diabetes. By studying individuals with rare RFX6 variants, we aim to better understand how disturbances in insulin and glucagon secretion contribute to diabetes. While this research focuses on a rare genetic form of diabetes, the findings may also turn out relevant for people with more common type 2 diabetes. We hope that our research could enable more individualized approaches to treatment of diabetes.