Genetic Diagnosis and Treatment of Rare Diseases

Dear Colleagues,

Rare genetic diseases collectively affect millions of individuals worldwide and remain a major challenge in clinical diagnosis, management, and treatment. Advances in next-generation sequencing (NGS) and multi-omics technologies are rapidly improving diagnostic accuracy and enabling more personalized approaches to patient care. This Special Issue invites contributions that advance the clinical application of genomic research in rare diseases, with an emphasis on improving diagnostic yield, patient stratification, and therapeutic outcomes. Topics of interest include NGS-based diagnostics (exome, whole-genome, and RNA sequencing) in clinical settings, integrative genomic and epigenomic analyses for disease classification, and the use of DNA and RNA methylation profiling in diagnosis and prognosis. We also welcome studies on novel gene–disease associations, expansion of clinical phenotypes, functional validation with clinical relevance, and emerging therapeutic strategies, including gene- and RNA-based therapies and precision medicine approaches. Submissions that demonstrate clear clinical utility, address unresolved cases, or improve patient outcomes are particularly encouraged.

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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized 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.