Special Issue "Omics in Rare Diseases: Insights and Perspective"

A special issue of Cells (ISSN 2073-4409).

Deadline for manuscript submissions: 31 January 2024 | Viewed by 54

Special Issue Editors

Functional Proteomics Laboratory, Life Science Department, University of Siena, Siena, Italy
Interests: system biology; proteomics; bioinformatics in omics; rare diseases

Special Issue Information

Dear Colleagues,

Although “rarity” is contextual to demographic and regional characteristics, disorders affecting less than 1 in 2000 individuals are considered rare diseases (RDs) by European Union legislation. Different estimates suggest the existence of 7000–10,000 RDs and that 5–10% of the world population suffers from them. Taken together and in light of their chronic, progressive, disabling, and life-threatening nature, RDs represent a significant hazard to global health. Currently, 450 million people with an RD are, in fact, living without treatment or an opportunity to improve.

At the biomedical level, RDs are highly complex disorders that present a wide heterogeneity of symptoms, progression, severity, and cellular affections. The latter span mainly from structural abnormalities to cell signaling pathway dysregulation, from enzyme deficiencies and abnormal protein aggregation to defective cellular transport and mitochondrion dysfunction. Clinical features and molecular defect severity often may vary from patient to patient affected by the same disease, even when patients share the same mutation. In addition, low incidence, geographical dispersion, heterogeneity, and limits in high-quality sample collection significantly hamper research on RDs.

In this scenario, -omics approaches are invaluable tools for achieving a broad, comprehensive, and systemic overview of the biochemical mechanisms driving RDs. By applying high-throughput -omics techniques and properly developed bioinformatics tools on different sample types (e.g., patients’ and animal models’ biopsies, ex vivo and organoid cultures, and cell lines), critical new knowledge is gradually acquired on RDs. From epigenomics to transcriptomics and miRNomics, from proteomics to degradomics and metabolomics, huge amounts of data are obtained, functionally processed, and properly integrated to finely delineate pathways and biomarkers for drug design and therapy setup.

This Special Issue is dedicated to the most recent research progress in the field of RDs by means of -omics and multi-omics approaches and welcomes original investigations as well as comprehensive review manuscripts from experts in these relevant research fields.

Dr. Laura Bianchi
Dr. Giulia Bernardini
Guest Editors

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. Cells 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 2700 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.


  • rare/orphan disease
  • rare genetic disorders
  • omics and multi-omics investigations
  • biomarker discovery
  • predictive functional analyses
  • orphan drug development and therapy
  • cell models of rare diseases
  • organoids of rare diseases

Published Papers

This special issue is now open for submission.
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