Advances in Rare and Complex Multisystem Disorders: From Molecular Mechanisms to Clinical Practice
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".
Deadline for manuscript submissions: 31 December 2026 | Viewed by 255
Editors
2. Center of Expertise of Rare Pediatric Neurological Disorders ”Al Obregia” Clinical Hospital, Bucharest, Romania
Interests: rare diseases; pediatric neurology; neuroendocrinology; metabolic disorders
2. Center of Expertise of Rare Pediatric Neurological Disorders ”Al Obregia” Clinical Hospital, Bucharest, Romania
Interests: rare diseases; pediatric neurology; neuroendocrinology; metabolic disorders; epilepsy
Special Issue Information
Dear Colleagues,
Rare and complex multisystem disorders constitute a major challenge in contemporary medicine due to their heterogeneous presentation, overlapping phenotypes and involvement of multiple organ systems. These conditions often require multidisciplinary management and remain associated with delayed diagnosis and limited therapeutic options. In recent years, rapid advances in genomics, molecular biology, systems medicine and high-throughput technologies have substantially expanded our understanding of the mechanisms underlying these disorders and have opened new avenues for precision diagnostics and targeted therapies.
This Special Issue aims to provide an updated overview of current advances in the molecular characterization and pathophysiology of rare and complex multisystem diseases, with particular emphasis on translational approaches that connect mechanistic discoveries with clinical practice.
We welcome original research articles and comprehensive reviews addressing, but not limited to, the following topics:
- Genetic and epigenetic determinants of rare diseases
- Dysregulated molecular and cellular pathways
- Genotype–phenotype correlations
- Metabolic, neuroendocrine, cardiovascular and neurological involvement
- Biomarker discovery and validation
- Experimental and preclinical disease models
- Precision medicine and targeted therapeutic strategies
- Multidisciplinary diagnostic and management approaches
Interdisciplinary studies integrating molecular data with clinical phenotyping and innovative diagnostic technologies are particularly encouraged.
Dr. Andreea Badea
Prof. Dr. Dana Craiu
Guest Editors
Manuscript Submission Information
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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. 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
- rare diseases
- multisystem disorders
- molecular mechanisms
- translational research
- precision medicine
- biomarkers
- genotype–phenotype correlation
- metabolic disorders
- neuroendocrine disorders
- personalized therapy
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