Molecular and Clinical Advances in Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder caused by defects in the structure and function of motile cilia. These abnormalities impair mucociliary clearance and can lead to chronic respiratory disease, recurrent airway infections, bronchiectasis, chronic rhinosinusitis, otitis media, infertility, and laterality abnormalities. Chronic upper and lower airway symptoms and recurrent exacerbations are major contributors to morbidity and significantly affect patients’ quality of life.Recent advances in next-generation sequencing, functional cilia analysis, imaging, and cellular modeling have improved the identification and characterization of PCD-associated genetic variants. Nevertheless, the clinical significance of many genetic findings remains unclear, and considerable variability exists in disease presentation, progression, and response to treatment. This Research Topic aims to integrate molecular and clinical perspectives on PCD. We welcome studies investigating novel genes and variants, genotype–phenotype correlations, ciliary structure and function, molecular mechanisms of disease, diagnostic technologies, biomarkers, and experimental models. Clinical studies addressing diagnostic pathways, disease monitoring, respiratory and extrapulmonary manifestations, quality of life, treatment strategies, and long-term outcomes are also encouraged.Research combining genetic or functional data with detailed clinical phenotyping will be particularly relevant. By bringing together molecular biology and clinical research, this Research Topic will support improved diagnosis, prognostic assessment, patient stratification, and individualized management of people with PCD.This Research Topic welcomes Original Research, Clinical Research, Reviews, Mini Reviews, Perspectives, and other article types addressing topics including, but not limited to:• PCD genes, variants, and sequencing• Ciliary biology and motility• Genotype–phenotype relationships• Clinical heterogeneity and disease modifiers• Diagnostic methods and pathways• Respiratory and systemic manifestations• Biomarkers, disease monitoring, and prognosis• Pulmonary exacerbations and long-term outcomes• Airway clearance and antimicrobial management• Quality of life and patient-reported outcomes• Lifelong care and transition from pediatric to adult services• Targeted and precision therapies Topic editors: Nicola Ullmann, Francesca Santamaria, PINELOPI ANAGNOSTOPOULOU Source: https://www.frontiersin.org/research-topics/86342/molecular-and-clinical-advances-in-primary-ciliary-dyskinesia