Monogenic Diabetes—from Basic Scientific Insights to Precision Care and Beyond
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 June 2026 | Viewed by 32
Special Issue Editor
Interests: adult preventive genomics; monogenic diabetes; pharmacogenomics; cardiac genomics; hereditary cancer; general genetics
Special Issue Information
Dear Colleagues,
Aims & Scope: Monogenic diabetes (MGD), including Maturity-Onset Diabetes of the Young (MODY), is underdiagnosed. Genetic testing enables accurate diagnosis and genotype-based treatment, allowing optimisation of diabetes care. While advancements in Next-Generation Sequencing (NGS) have expanded our diagnostic capabilities, significant challenges remain in access equity, variant interpretation, discovery of novel loci and novel treatment options, and global implementation.
This Special Issue aims to consolidate the latest research in the genomic landscape of MGD. We invite the submission of original research, perspectives, systematic reviews, and meta-analyses that address the biological mechanisms, clinical phenotypes, novel precision treatments, and ethical considerations of MGD.
Key Areas of Interest: We are particularly interested in submissions covering the following topics:
- Discovery and Innovation: Whole-genome and exome sequencing studies identifying novel causal variants or regulatory elements.
- Functional Characterisation: The use of iPSCs, organoids, and CRISPR-based models to validate the pathogenicity of novel variants.
- Clinical Bioinformatics: Development of biomarkers, polygenic risk scores (PRS), and clinical decision tools to predict MGD.
- Health Equity: Research addressing the diagnostic gap in underrepresented populations and the creation of ancestry-specific databases, as well as metadata-based research and data sharing.
- Implementation Science: Evaluating the cost-effectiveness of universal vs. targeted screening and the role of AI in EHR-based research.
Dr. Kathy HC Wu
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.
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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- MODY
- precision
- implementation
- diversity
- equity
- bioinformatics
- functional genomics
- genotype
- phenotype
- high throughput
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