Molecular Basis in Rare Genetic Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 5 August 2025 | Viewed by 62
Special Issue Editor
2. Keck School of Medicine of USC, Los Angeles, CA 90089, USA
Interests: rare mendelian diseases; molecular genetics; clinical diagnosis
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This Special Issue aims to explore the world of rare disease with the help of genetic and genomic research. Rare genetic disorders, while individually uncommon, affect millions of people around the world and can provide specific challenges in diagnosis, treatment, and research due to their complexity. Gene mutations, epigenetic modifications, and RNA mechanisms that interfere with normal biological processes will be explored. This area of research is quickly expanding, with significant implications for biomedical research and therapeutic development. Special focus will be placed upon novel diagnosis techniques like next-generation sequencing (NGS)-based disease-specific multi-gene panel, exome, and whole-genome sequencing, novel bioinformatics methodologies and tools to facilitate rare disease diagnosis, the functional elucidation of disease mechanisms, new disease–gene relationships, expanded disease phenotypes, and rare genetic disease treatments as well as outcomes.
In summary, all genomic facets of and novel discoveries related to rare genetic disorders will be covered in this Special Issue. Colleagues are encouraged to submit manuscripts with original articles or reviews on this topic.
Dr. Miao Sun
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
- nucleotide and mitochondrial DNA
- RNA modification
- epigenetics
- gene expression
- rare disease and inheritance
- clinical pathology
- disease mechanism
- bioinformatics and tools
- functional studies
- treatment and therapy
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