Monogenic diabetes (MD), defined as a single gene defect leading to diabetes, is tought to affect more than 1% of the diabetes population and up to 4% of the pediatric cases. Monogenic diabetes causes neonatal diabetes, maturity-onset diabetes of the young (MODY), and syndromic diabetes. The identification of the gene underlying MD remains crucial. In many cases, it will instruct a personalized treatment regime, thus improving metabolic control and minimizing long-term complications. Diabetes-related gene alterations may lead to either a reduction in the function or number of beta cells or to a postnatal progressive destruction of beta cells [1,]. The objective of this proposal is to elucidate the mechanisms by which newly discovered gene mutations may cause diabetes.


Rodolphe Dusaulcy, PhD. Molecular Diabetes Laboratory, CMU, University of Geneva

Precision diabetes in pediatrics : linking genetics with functional biology