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Special Issue "Molecular Mechanisms of Musculoskeletal Involvement in Rare Diseases"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 December 2023 | Viewed by 146

Special Issue Editor

Department of Orthopaedics and Traumatology, IRCCS Fondazione Policlinico San Matteo, University of Pavia, 27100 Pavia, Italy
Interests: hemophilic arthropathy; orthopedic surgery; joint replacement; motion analysis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare diseases are heterogeneous conditions that affect < one in 2000 individuals and most of them (80%) have a genetic component. Currently, 6000 to 8000 rare diseases have been identified and new conditions are regularly being described in the literature. Numerous rare diseases involve musculoskeletal system causing disability to patients and greatly worsening their quality of life. The investigation of pathogenesis of joint and bone involvement would give the chance to improve our knowledge in this field and help to find new therapeutic solutions that will improve patient’s life.Moreover, the study of molecular pathways involved in rare syndromes have been often useful in order to clarify several mechanisms of common disorders for general population and new therapeutic options.

This Special Issue aims to enhance the importance of the molecular mechanisms that involve the musculoskeletal system in people affected by rare diseases. We’ll value all those scientific works that include molecular results or/and review the topic focusing on molecular pathways involved in joint degeneration and bone involvement.

Dr. Gianluigi Pasta
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. 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
  • molecular pathways
  • musculoskeletal system
  • bone involvement
  • joint degeneration

Published Papers

This special issue is now open for submission.
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