Molecular Mechanisms and Emerging Therapies in Human Skeletal Disorders
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".
Deadline for manuscript submissions: 30 June 2026 | Viewed by 41
Special Issue Editor
Interests: rare genetic skeletal disorders; metabolic disorders; glycogen storage disease (GSD); autophagy; colorectal cancer (CRC) progression; liver and kidney disease; genetically modified mouse models; gene therapy
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Human skeletal disorders encompass a heterogeneous group of congenital, genetic, metabolic, and degenerative conditions that collectively impose a substantial clinical and socioeconomic burden. Recent advances in molecular genetics, high-throughput multi-omics technologies, and high-resolution imaging have markedly deepened our understanding of the cellular pathways governing skeletal development, maintenance, and repair. These advances have also uncovered previously unrecognized pathogenic mechanisms involving autophagy, lysosomal homeostasis, metabolic reprogramming, extracellular matrix integrity, and inter-organ communication.
This Special Issue will provide a comprehensive platform for disseminating cutting-edge research focused on the molecular pathophysiology of skeletal diseases and the development of innovative therapeutic strategies. We welcome submissions that elucidate genetic and epigenetic determinants of skeletal malformations and dysplasia, mechanisms underlying metabolic bone diseases, and molecular pathways implicated in disorders such as glycogen storage diseases, osteogenesis imperfecta, chondrodysplasias, craniofacial anomalies, and mineralization defects. Studies employing advanced disease-modeling systems, including patient-derived induced pluripotent stem cells (iPSCs), organoids, CRISPR-based genome engineering, and genetically modified mouse models, are of particular interest.
Given the rapidly evolving therapeutic landscape, this Special Issue also seeks contributions that explore emerging treatment modalities. These include gene replacement and gene-editing approaches, viral and non-viral gene delivery systems, RNA-based therapeutics, targeted enzyme replacement strategies, small-molecule modulators, and next-generation biologics with potential to correct or mitigate skeletal pathology. Investigations into biomaterials, tissue engineering, and regenerative approaches that support skeletal repair and functional recovery are likewise encouraged.
By integrating mechanistic insights with translational and clinical perspectives, this Special Issue seeks to advance the collective understanding of skeletal biology and accelerate the development of precision therapies for rare and common skeletal disorders. We invite original research articles, comprehensive reviews, and perspectives from investigators working across molecular biology, genetics, orthopedics, metabolism, and regenerative medicine.
Dr. Sudeep Gautam
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. Biomedicines 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.
Keywords
- skeletal disorders
- genetic bone diseases
- metabolic bone disease
- rare skeletal dysplasias
- extracellular matrix biology
- CRISPR genome editing
- genetically modified mouse models
- gene therapy
- AAV-based therapeutics
- RNA therapeutics
- musculoskeletal regeneration
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
