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Special Issue "Computational and Omics Research on Rare Diseases"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Informatics".

Deadline for manuscript submissions: 30 September 2021.

Special Issue Editor

Prof. Dr. Andrea Bernini
E-Mail Website
Guest Editor
Department of Biotechnology, Chemistry and Pharmacy, Università di Siena, Siena, Italy
Interests: structural biology; rare diseases; metabolomics; nuclear magnetic resonance; protein dynamics; protein core & surface; transient pockets

Special Issue Information

Dear Colleagues,

The comprehensive measurement of the molecular state of cells allowed by omics techniques, whether singly or together in a tissue, is rapidly redefining our understanding of disease and human development. We wish to focus such an approach on rare diseases. By definition, a rare disease affects fewer than one individual in 2000 people in the general population. However, as there are nearly 8000 rare diseases, it turns out that these “rare” diseases affect more than 300 million people worldwide. Genomics and all the emerging omics techniques hold the key to new diagnoses and therapies for rare diseases, but constant advances in analytical and computational methods are needed to support these techniques at increasing scale. Innovative approaches are also desirable to translate omics research into pharmacological therapies.

We are seeking for papers that investigate rare diseases using an omics or integrated omics approach as well as computational omics involving artificial intelligence, big data, molecular simulations. Papers addressing specific pharmacological therapies involving drug-repositioning for rare diseases in light of omics studies are warmly welcomed.

Prof. Dr. Andrea Bernini
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 papers will be 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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 diseases
  • genetic diseases
  • inborn
  • omics sciences
  • integrated omics approaches
  • computational omics
  • computational biology
  • bioinformatics
  • mutations
  • machine learning
  • artificial intelligence
  • molecular chaperones
  • drug repositioning
  • precision medicine

Published Papers

This special issue is now open for submission.
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