Genetic Variations and Human Diseases: From Mechanisms to Translational Medicine
A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Genomics and Proteomics".
Deadline for manuscript submissions: 20 January 2027 | Viewed by 203
Editor
Interests: cancer genomics; translational medical sciences; personalized genomic; pharmaceutical sciences
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Advances in genetic research have profoundly expanded our understanding of disease susceptibility, marking a transformative era for biomedical science and precision medicine. A growing body of evidence has demonstrated that genetic variations, particularly single-nucleotide polymorphisms (SNPs), are closely associated with the risk, progression, and clinical outcomes of a wide spectrum of diseases. These include, but are not limited to, cancers, cardiovascular diseases, neurological and neurodegenerative disorders, metabolic syndromes, autoimmune diseases, inflammatory conditions, and other complex multifactorial diseases.
Such findings highlight the pivotal role of genetic variation in disease pathogenesis, emphasizing its potential not only as a molecular marker for risk stratification and early detection but also as a foundation for mechanism-based therapeutic development and personalized intervention strategies.
Despite substantial progress, inconsistencies across studies remain common. These discrepancies often arise from factors such as population heterogeneity, limited sample sizes, methodological variability, and differences in ethnic and environmental backgrounds. These challenges underscore the pressing need for well-designed, robust, and translational studies to validate existing findings, uncover shared or disease-specific genetic mechanisms, and explore new avenues in genetic medicine.
We invite translational scientists worldwide to submit original research that elucidates the genetic basis of human diseases across all disease categories. Studies should integrate experimental, clinical, or population-based validation; submissions relying solely on in silico or dry-lab analyses will not be considered. By contributing to Life, authors will help bridge genetic discoveries with biological mechanisms and clinical relevance, fostering advances that extend across disease boundaries.
I look forward to receiving your valuable contributions.
Prof. Dr. Da-Tian Bau
Guest Editor
Manuscript Submission Information
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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
- biomarkers
- cancer genomics
- diagnosis
- disease susceptibility
- personalized medicine
- single nucleotide polymorphism (SNP)
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