Molecular Discoveries, Clinical Diagnostics, and Personalized Treatments for Human Genetic 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 July 2025 | Viewed by 366
Special Issue Editor
Interests: nutraceutical action; genetic obesity; mouse models of disease
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Collaborations between scientists and clinicians have helped genetic medicine to make significant advances in recent years. The latest human genome assembly from Ensembl! (GRCh38.p14) has identified over 1 billion short variants and 7.8 million structural variants in humans; yet, for most of these variants, we have no data on whether they are silent or result in rare phenotypes or life-threatening genetic diseases. The use of in silico tools and laboratory studies of engineered polymorphisms in cells or animals can lead to the creation of clinical diagnostic tools, and eventually to personalized treatments for human carriers.
In this Special Issue, we invite researchers and clinicians to contribute high-quality original papers describing new polymorphisms contributing to human genetic disease, new or improved molecular diagnostic tests, new pharmacogenetic findings that define treatment strategies and novel genetic discoveries from all areas of medicine. Papers including methodologies such as whole genome sequencing, cell and animal models, in silico prediction tools, and clinical trials are welcome. The goal of this Special Issue is to highlight advances leading to new molecular diagnostic tools for earlier detection, new treatments and new cures.
Dr. Deborah J. Good
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. 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
- polymorphisms
- molecular diagnostic tools
- biomarkers
- whole genome sequencing
- de novo mutations
- inherited conditions
- pharmacogenetics
- rare disease markers
- precision medicine
- genetic testing
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