Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes.

ABSTRACT: Monogenic diabetes is a genetic disorder caused by one or more variations in a single gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal diabetes, maturity onset diabetes of the young (MODY) and syndromic diabetes, affecting 1-5% of patients with diabetes. Some of these variants are harbored by genes whose altered function can be tackled by specific actions ("actionable genes"). In suspected patients, molecular diagnosis allows the implementation of effective approaches of precision medicine so as to allow individual interventions aimed to prevent, mitigate or delay clinical outcomes. This review will almost exclusively concentrate on the clinical strategy that can be specifically pursued in carriers of mutations in "actionable genes", including ABCC8, KC

SUBMITTER: Marucci A 

PROVIDER: S-EPMC8774614 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature