Perspectives of Molecular Genetics and Genomics in Human Mendelian Diseases
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 March 2025 | Viewed by 56
Special Issue Editor
Special Issue Information
Dear Colleagues,
The fields of molecular genetics and genomics have revolutionized our understanding of human diseases by revealing the genetic basis that drives complex biological processes. As Mendelian disorders are often rare and not completely understood, molecular genetics and genomics could provide insights into the mechanisms of disease onset, progression, and therapeutic responses.
Over the past few decades, technological advances such as next-generation sequencing (NGS), genome editing, and large-scale genomic data analysis have contributed to speeding up and deepening knowledge of these diseases, as well as opening new horizons for precision medicine.
This Special Issue aims to explore current perspectives of molecular genetics and genomics in relation to human Mendelian diseases, showcasing recent advances, emerging challenges, and future directions in this rapidly evolving field.
In this Special Issue, original research articles and reviews are welcome on areas that may include (but are not limited to) the following:
- Functional genomics (genomics, transcriptomics, metabolomics, proteomics, etc.) applied to the discovery of the biological processes of human diseases;
- Multi-omics approaches;
- Discovery of genetic and genomic biomarkers for disease susceptibility and progression;
- Gene–environment interactions in disease manifestation;
- Non-coding DNA and RNA, miRNA, and lncRNA involvement in human diseases;
- Application of computational genomics in the interpretation of genetic variants;
- CRISPR-Cas technologies and their application in disease models and gene therapy.
I look forward to receiving your contributions.
Dr. Marta Rusmini
Guest Editor
Manuscript Submission Information
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Keywords
- functional genomics
- omics
- genetic disease
- human
- molecular mechanisms
- genome editing
- biomarkers
- computational genomics
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