From Mystery to Diagnosis: Redefining Medical Practice Through Rare Disease Diagnostics

Dear Colleagues,

This Special Issue, “From Mystery to Diagnosis: Redefining Medical Practice Through Rare Disease Diagnostics,” focuses on the transformative role of modern diagnostic approaches in identifying and managing rare diseases. Although individually uncommon, rare diseases collectively affect millions worldwide, and delayed diagnosis remains a major clinical and public health challenge. We invite contributions that explore innovative diagnostic strategies, including molecular and genomic testing, multi-omics approaches, biomarker discovery, advanced imaging, artificial intelligence-assisted diagnostics, and integrated clinical–genetic workflows. Papers addressing diagnostic odysseys, genotype–phenotype correlations, epigenetic contributions, newborn screening programs, or interdisciplinary models of care are particularly welcome. This Special Issue seeks original research articles, comprehensive reviews, case series, and illustrative case reports that highlight the complexity of rare disease detection and the clinical impact of early, accurate diagnosis. Our aim is to advance knowledge and improve diagnostic pathways for patients living with rare conditions.

Prof. Dr. Emilia Severin
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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly 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.