Rare Syndrome
A section of Diseases (ISSN 2079-9721).
Section Information
This section of Diseases (ISSN 2079-9721) will provide an open platform for research into all aspects of diseases considered as rare according to US or EU parameters. The goal is to provide a platform for all health professionals to share knowledge, providing a better understanding of etiology, prevention, pathogenic mechanisms and clinical aspects, in order to improve our treatment and management of patients suffering from a rare disease. Also we hope this section will be an additional tool to help in the continuing efforts to tackle difficult-to-diagnose diseases.
Rare Syndrome topics of interest include, but are not limited to:
- epidemiology
- social aspects
- pathogenic mechanisms
- genetic aspects
- prevention
- diagnostic tools
- patients’ care
- clinical aspects
- therapy
- patients’ management
- study of animal models
- in vitro models
Editorial Board
Special Issue
Following special issue within this section is currently open for submissions:
- ‘Rare Syndromes: Diagnosis and Treatment’ in 2024–2026 (Deadline: 1 August 2025)
Topical Collection
Following topical collection within this section is currently open for submissions: