Genetic Variations in Human Diseases: 2nd Edition
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 May 2025 | Viewed by 52
Special Issue Editor
Interests: genetic determinants of the tendon healing process; coronary artery disease (CAD); autism spectrum disorder (ASD); osteoporosis;childhood ischemic stroke; inflammatory and free radical aspects of atherosclerosis; gene–gene and gene–environment interactions in individual susceptibility to multifactorial diseases
Special Issue Information
Dear Colleagues,
We are excited to invite you to submit articles for the upcoming Special Issue of the International Journal of Molecular Sciences, titled “Genetic Variations in Human Diseases: 2nd Edition”. Despite unprecedented progress in the identification of loci associated with human diseases, the completion of the Human Genome Project, and the development of genome-wide association studies (GWASs), many important aspects of the role of genetic variation in human physiology and pathology remain unexplored. Relatively little is known about the role of non-coding sequences and their potential impact on disease. Additionally, key gaps include the role of gene–gene and gene–environment interactions in understanding multifactorial diseases. Further investigation is needed into the effects of rare variants whose analysis poses methodological challenges, as well as epigenetic mechanisms, particularly their inheritance and their influence on disease susceptibility.
We invite contributions on both monogenic diseases with classic Mendelian inheritance and complex, multifactorial diseases with a genetic and environmental background. We especially welcome cohort and family-based studies focused on quantitative traits and specific patient phenotypes, along with well-designed association studies on the relationship between genetic variability and disease. We seek studies examining the role of protein-coding genes, various RNA types, and non-coding sequences that may be important in the pathogenesis of both rare and common human diseases. Additionally, studies analyzing gene–gene and gene–environment interactions using modern statistical algorithms and advanced bioinformatic tools, including in silico analyses, are highly encouraged. We look forward to your submissions of original research articles, high-quality meta-analyses, and critical reviews that will deepen our understanding of genetic variations in human diseases, from molecular background to clinical applications.
We look forward to receiving your contributions.
Dr. Paweł Niemiec
Guest Editor
Manuscript Submission Information
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Keywords
- genetic polymorphism
- gene–gene interaction
- gene–environment interaction
- monogenic disorder
- mutation
- phenotype
- quantitative trait locus
- family-based study
- cohort study
- association study
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