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Global perspectives on monogenic forms of diabetes
James Russ-Silsby1, Milena Teles2,3, Samar S Hassan4,5
1Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.
Diabetologia
|July 16, 2025
Summary
Monogenic diabetes, caused by single gene defects, shows diverse clinical features and treatments. Advances in genomic sequencing improve understanding but face challenges in global research diversity and genetic testing access.
Area of Science:
- Genetics
- Endocrinology
- Precision Medicine
Background:
- Monogenic diabetes is a rare, heterogeneous group of disorders.
- Clinical presentation and treatment vary significantly among subtypes.
- Genomic advances have improved understanding of its etiology and variability.
Purpose of the Study:
- To review the impact of precision medicine and genomic sequencing on understanding monogenic diabetes.
- To highlight global challenges in research diversity and genetic testing.
- To explore future directions in research and treatment.
Main Methods:
- Review of current literature on monogenic diabetes.
- Discussion of advances in genomic sequencing and precision medicine.
- Analysis of challenges in diagnosis, variant interpretation, and treatment.
Main Results:
- Genomic sequencing enhances understanding of monogenic diabetes etiology and variability.
- Research is limited by European genetic ancestry over-representation, impacting non-European diagnoses.
- Disparities in genetic testing and challenges in variant interpretation (e.g., variable penetrance) affect accuracy.
Conclusions:
- Precision medicine and genomics offer new insights into monogenic diabetes.
- Addressing global research and testing disparities is crucial for accurate diagnosis.
- Future research and novel therapies like stem cell transplantation show promise.
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