Molecular Mechanisms Underlying the Pathogenesis of Genetic 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: 20 March 2026 | Viewed by 895
Special Issue Editor
Interests: protein processing; protein post-translational modifications; CFTR modulators; CFTR expression and functional assays; epithelial tissue models
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
It is my great pleasure to invite you to contribute to this Special Issue, entitled “Molecular Mechanisms Underlying the Pathogenesis of Genetic Diseases”, which I have the honor of Guest Editing.
Understanding the molecular mechanisms responsible for genetic diseases is crucial to elucidating their pathogenesis and developing targeted therapeutic strategies. This Special Issue invites the submission of high-quality contributions that investigate the molecular basis of genetic disorders, analyze genotype–phenotype correlations, and explore emerging approaches to diagnosis and therapy. Particular attention will be paid to omics-based approaches, the role of modifier genes, and the development of personalized treatments.
Additionally, we encourage submissions focused on the study of the mechanism of action of investigational molecules and drugs currently in clinical trials. Manuscripts addressing clinical trial outcomes, biomarkers for treatment response, and translational research efforts aimed at bridging the gap between basic science and clinical application are also welcome.
We invite original research articles, reviews, and perspective papers on topics including, but not limited to, the following:
- Molecular mechanisms driving genetic diseases and their functional consequences;
- Genotype–phenotype correlation and disease variability;
- Multi-omics approaches (genomics, transcriptomics, proteomics, metabolomics) for studying genetic disorders;
- The role of modifier genes in disease progression and therapeutic response;
- Personalized medicine and innovative therapeutic strategies, including gene therapy and targeted pharmacological interventions;
- Mechanisms of action of investigational molecules and drugs in clinical development;
- Biomarkers and outcome measures in clinical trials for genetic diseases;
- Translational research connecting molecular findings to clinical applications.
I look forward to receiving your valuable contributions to advance our understanding of genetic disease mechanisms and therapeutic strategies. Please feel free to contact me if you require any further information.
Dr. Debora Baroni
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 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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
- genetic diseases
- genotype–phenotype correlations
- multi-omics approaches
- current and investigational therapeutical approaches
- personalized medicine
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