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Monogenic diabetes (MD) is clinically and genetically heterogeneous, including maturity onset diabetes of the young and infancy\u2010onset and neonatal diabetes mellitus, which are characterized by functional defects of insulin\u2010producing pancreatic \u03b2\u2010cells and hyperglycemia early in life. Depending on the genetic cause, MD differs in the age at diabetes onset, the severity of hyperglycemia, long\u2010term diabetic complications, and extrapancreatic manifestations. In this review we discuss the many challenges of molecular genetic diagnosis of MD in the face of a substantial genetic heterogeneity, as well as the clinical benefit and cost\u2010effectiveness of an early genetic diagnosis, as demonstrated by simulation models based on lifetime complications and treatment costs. We also discuss striking examples of proof\u2010of\u2010concept of genomic medicine, which have enabled marked improvement in patient care and long\u2010term clinical management. Recent advances in genome editing and pluripotent stem cell reprogramming technologies provide new opportunities for in vitro diabetes modeling and the discovery of novel drug targets and cell\u2010based diabetes therapies. A review of these future directions makes the case for exciting translational research to further our understanding of the pathophysiology of early onset diabetes.<\/jats:p>","DOI":"10.1111\/1753-0407.12446","type":"journal-article","created":{"date-parts":[[2016,7,7]],"date-time":"2016-07-07T21:44:23Z","timestamp":1467927863000},"page":"782-795","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Monogenic diabetes: Implementation of translational genomic research towards precision medicine"],"prefix":"10.1111","volume":"8","author":[{"given":"Martine","family":"Vaxillaire","sequence":"first","affiliation":[{"name":"CNRS\u2010UMR 8199, Integrative Genomics and Modelling of Metabolic Diseases Pasteur Institute of Lille  Lille France"},{"name":"Lille University  Lille France"},{"name":"European Genomic Institute for Diabetes (EGID)  Lille 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