Clinical and Translational Research in Rare Diseases Affecting the Respiratory System
A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Pulmonology".
Deadline for manuscript submissions: 31 July 2025 | Viewed by 92
Special Issue Editors
Interests: paediatric pulmonology; lung function testing; lung development; cystic fibrosis; primary ciliary dyskinesia
2. Medical School, University of Crete, 71500 Heraklion, Greece
Interests: respiratory medicine; translational research; immunology; interstitial lung diseases
Special Issue Information
Dear Colleagues,
We are serving as the Guest Editors of the Special Issue “Clinical and Translational Research in Rare Diseases Affecting the Respiratory System” in Medicina, and we invite you to submit a relevant review, original research article based on your clinical and/or translational research in this field.
Rare diseases affecting the respiratory system include a wide spectrum of thoracic diseases and systemic conditions with pulmonary involvement, which are often neglected, underdiagnosed, or inadequately treated due to their low prevalence. Although patients with these conditions may face severe symptoms, impaired quality of life, life-threatening complications, and increased morbidity and mortality, clinicians are often not adequately informed about their investigation and management.
This Special Issue will discuss matters associated with rare diseases affecting the respiratory system, including rare genetic disorders (cystic fibrosis, primary ciliary dyskinesia, α1-antitrypsin deficiency, etc), interstitial lung diseases, rare inflammatory disorders and other rare conditions of the thoracic cavity (e.g. involving the heart and great vessels), and rare systematic diseases that affect the lungs. This selection of articles aims (i) to highlight the current knowledge on diagnosis and treatment and (ii) potential gaps in the literature, as well as (iii) point out research advancements that may change clinical practice in the field, particularly in the context of precision medicine. The scope of this Special Issue is broad, and we encourage the submission of articles on a wide spectrum of topics and perspectives, including, but not restricted to, biological mechanisms, evidence-based diagnostic techniques, potential disease biomarkers and monitoring tools, novel and established therapeutic agents and strategies, instruments that assess patient-reported outcomes and health-related quality of life, and notable clinical cases.
We look forward to receiving your submissions.
Dr. Pinelopi Anagnostopoulou
Guest Editor
Dr. Nikoleta Bizymi
Dr. Andreas Matthaiou
Guest Editor Assistants
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 100 words) can be sent to the Editorial Office for announcement on this website.
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Keywords
- respiratory system
- thoracic cavity
- lungs
- airways
- cystic fibrosis
- primary ciliary dyskinesia
- α1-antitrypsin deficiency
- interstitial lung diseases
- genetic diseases
- rare diseases
- orphan diseases
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