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.

PRINCIPAL APPLICANT :

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

Precision diabetes in pediatrics : linking genetics with functional biology