Monogenic diabetes study

Non-autoimmune diabetes includes “classic” type 2 diabetes and “atypical” forms of diabetes. Genetic studies have shown that a large proportion of these diabetic patients carry a single deleterious mutation responsible for primary insulin secretion defects. More than 20 genes have been shown to carry deleterious mutations causing a spectrum of diabetes phenotypes: neonatal diabetes mellitus often associated with other organ development abnormalities, non-autoimmune diabetes of infancy, maturity onset diabetes of the young or familial type 2 diabetes in young adulthood. It has been firmly established that elucidating the causes of atypical non-autoimmune diabetes may lead to major progress in patient care and family counseling.

The prevalence of atypical diabetes has been underestimated due to difficulties in and the high cost of genetic diagnosis. Recently, ground-breaking methodologies using next-generation sequencing have enabled quick and cost-effective genetic diagnosis that can help diabetes specialists to determine the optimal treatment of individuals with recently diagnosed non-autoimmune diabetes.

In this context, the MGSD has decided to implement a study covering the Mediterranean region to detect monogenic diabetes among patients suspected to have atypical diabetes.

The objective of the study is to provide Mediterranean diabetes specialists with an innovative tool to diagnose new cases of atypical non-autoimmune diabetes among their patients. Diagnosis is based on a genetic analysis of a saliva sample with a PCR-based enrichment technology in combination with massively parallel sequencing.