In the era of advanced genomics, data-driven healthcare, and molecular profiling, precision and personalized medicine have revolutionized how rare diseases are diagnosed, treated, and monitored. However, many rare cardiovascular and systemic disorders still remain underdiagnosed or misclassified due to clinical and genetic heterogeneity.
This special issue aims to bring together clinicians, geneticists, pharmacologists, bioinformaticians, and translational scientists to share cutting-edge research, clinical trials, and reviews that explore how precision medicine is shaping the understanding and management of rare disorders across medical fields.
The issue encourages cross-disciplinary contributions, especially studies that connect cardiovascular, neurological, metabolic, and oncological rare diseases through a personalized medicine framework.
We welcome original research articles, systematic reviews, short communications, and case series in the following areas (but not limited to):
Genomic and proteomic profiling of rare diseases
Molecular pathways and biomarker discovery
Pharmacogenomics and individualized therapeutic approaches
AI, data analytics, and machine learning in precision diagnostics
Genetic counseling and family-based screening models
Multi-omics integration (genomics, transcriptomics, metabolomics)
Clinical trials in precision medicine
Ethical and policy aspects of personalized rare disease care
Translational models linking molecular research to clinical practice
Submission Opens: March 10, 2025
Submission Deadline: September 30, 2025
Expected Publication: October 15 2025 Issue
All manuscripts must be submitted via email to specialissue@jrcd.eu following the journal’s author guidelines available on the JRCD website.