Multidisciplinary Approaches to Diagnosis and Treatment of Rare Pediatric Disorders
A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Translational Pediatrics".
Deadline for manuscript submissions: 25 December 2026 | Viewed by 179
Editors
2. Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain
Interests: genetics; rare diseases; translational medicine; genomics medicine; personalized medicine; multi-omics technologies; development of novel therapeutic strategies; neuromuscular disorders; functional genomics and disease modeling
Special Issues, Collections and Topics in MDPI journals
Interests: genomics; rare disease; RASopathies; skeletal dysplasias; hereditary connective tissue disorders; chromatin disorders; rare disease therapies
Special Issue Information
Dear Colleagues,
Rare pediatric disorders represent a significant challenge in healthcare due to their clinical heterogeneity, genetic complexity and frequent diagnostic delays. Although individually rare, these conditions collectively affect a substantial number of children worldwide and often require long-term, specialized and multidisciplinary care. Recent advances in genomics, multi-omics technologies and precision medicine have accelerated disease gene discovery, improved diagnostic yield and opened new opportunities for targeted therapeutic interventions. Nevertheless, integrating these advances into routine clinical practice remains a critical need.
This Special Issue, Multidisciplinary Approaches to Diagnosis and Treatment of Rare Pediatric Disorders, aims to highlight cutting-edge research that bridges basic science, translational research and clinical care.
We welcome contributions exploring advanced diagnostic strategies, multi-omics approaches, biomarker discovery, innovative therapeutic strategies and coordinated multidisciplinary care models.
We invite original research articles, reviews, case series, case reports, short communications and clinical perspectives addressing genetic, neuromuscular, metabolic and neurodevelopmental rare disorders, as well as studies focused on improving diagnosis, treatment and long-term outcomes in children with rare diseases.
Dr. Jordi Pijuan
Prof. Dr. Donald G. Basel
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 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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children 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 2400 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
- rare pediatric disorders
- rare diseases
- precision medicine
- translational research
- genomics
- multi-omics
- advanced diagnostics
- personalized medicine
- functional studies
- therapeutic strategies
- multidisciplinary care
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