Genetic Mutations and Molecular Mechanisms in Human Diseases
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 May 2026 | Viewed by 14
Special Issue Editors
2. Departments of Pathology and Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA
Interests: genetics; genomics; cancer genomics; somatic mosaicism; cytogenetics
Special Issue Information
Dear Colleagues,
This Special Issue will explore the complex landscape of genetic alterations and the molecular mechanisms that underlie human diseases. It will feature cutting-edge research that elucidates how changes in DNA sequences disrupt cellular pathways, leading to various pathological phenotypes. Contributions may cover monogenic or complex disorders, emphasizing genotype–phenotype correlations, functional genomics, epigenetic changes, and mechanistic insights that connect basic science and clinical applications.
This Special Issue will highlight studies that use multiomics approaches, advanced molecular modeling, and translational research to emphasize the role of genetic variation in disease onset, progression, and therapeutic response.
Our goal is to showcase clinicians, geneticists, and researchers dedicated to uncovering the molecular basis of human diseases and to accelerate the development of targeted interventions that improve patient outcomes through the power of genomic science.
Dr. Ying Chen Claire Hou
Dr. Mariam Mathew
Guest Editors
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 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
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
- genetics
- cytogenetics
- genome sequencing
- RNA sequencing
- functional genomics
- precision medicine
- epigenetics
- DNA methylation
- single-cell technologies
- spatial omic technologies
- human diseases
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