Project at a glance

Genetic basis of diabetes mellitus

Genetic alterations underlie the four main types of diabetes mellitus (DM) (diabetes type 1, diabetes type 2, gestational diabetes and monogenic diabetes). Clinical differences within the four main types of DM suggest further subtypes.

We apply whole exome and genome sequencing in cohorts of children and adults to explore those additional subtypes. We then characterize newly identified genes using in vitro (primary beta cells and islets) and in vivo models (mice). With this approach, we have found that 4% of children initially diagnosed as DM type 1 suffer in fact from a monogenic form of diabetes. We have preliminary data, suggesting a genetic stratification with DM type 1 that would predict the clinical outcome. Genetically instructed precision diagnosis of DM type 1 will further allow optimizing treatment to improve metabolic control and quality of life.