Monogenic Diabetes: from Genetics and Cell Biology to Clinical Practice

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About this Research Topic

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Background

Monogenic diabetes mellitus (MDM) is a special type of diabetes caused by a single gene mutation. MDM accounts for approximately 1-5% of all causes of diabetes. To date, mutations in more than 30 genes have been reported to cause MDM. Most of the genes are critical for pancreatic beta cell function, development, and survival. Over the past decades, significant advances have been made in MDM awareness, diagnosis, and management. However, the majority of patients with MDM are misdiagnosed as type 1 diabetes or type 2 diabetes, and do not receive appropriate management. There are significant unmet medical needs for improving recognition, appropriate clinical/genetic testing/diagnosis and management, as well as a better understanding of the underlying mechanisms of MDM. This Special Issue aims to collect papers not only focusing on genetic and molecular bases of MDM, but also translating the basic and clinical research findings into the clinical practices for developing individualized precision management of MDM.

1. This Research Topic aims to provide cutting-edge scientific advances on better understanding of the genetic and molecular bases of MDM, particularly, on uncovering the genetic and cell biology links between the spectrum of clinical phenotypes and known MDM causing gene mutations.
2. Clinical research/trails/reviews that optimize/discuss the current strategies for the genetic diagnosis and/or individualized precision management of MDM are welcome. The clinical research/trails/case reports exploring the novel approaches for diagnosis/management of MDM are particularly welcome.

This special issue focuses on the genetic and molecular bases of MDM, and how the basic and clinical research findings translate to the clinical practices for developing individualized precision management of MDM. We welcome original basic and clinical research, case reports, review and mini-review articles focusing on the following topics:
• Discovering new genetic bases of MDM, particularly, uncovering the genetic links between the spectrum of clinical phenotypes and known MDM causing gene mutations.
• Improving the understanding of molecular bases of MDM, particularly, uncovering the cell biology links between the spectrum of clinical phenotypes and known MDM causing gene mutations.
• Clinical research/trails/reviews that optimize/discuss the current strategies for the genetic diagnosis and/or individualized precision management of MDM. The clinical research/trails/case reports exploring the novel approaches for diagnosis/management of MDM are particularly welcome.
• Clinical research/trails that assess MDM prevalence and the short-term/long-term outcomes of the complications associated with MDM.

Keywords: Monogenic diabetes, Pancreatic beta cells, Gene mutations, Genetic testing, Individualized precision medicine

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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