Precision medicine in respiratory diseases A translational journey from biomarker discovery to validation

Respiratory diseases such as asthma, chronic obstructive pulmonary disease (COPD), and post COVID condition pose significant global health challenges due to their complexity, heterogeneity, and burden on patients and healthcare systems. This thesis explored innovative approaches for improved understanding, diagnoses, and management of these conditions through systems biology and biomarker research.
The thesis starts with providing an introduction on prevalence, impact, and shared biological mechanisms of respiratory diseases. The chapter emphasizes on the roles of inflammation, oxidative stress, and metabolic disruptions. The following section of the work is related to exhaled metabolites. In a systematic review the association of volatile organic compounds (VOCs) in exhaled breath with asthma and COPD risk factors is addressed, the results advocate for careful interpretation and exclusion of risk factor-driven VOCs. Subsequent chapters investigated the potential of VOCs as noninvasive biomarkers for asthma control, COPD exacerbations, and pediatric post COVID condition, demonstrating their utility in diagnosis/prognosis, monitoring, and patient stratification. The closing chapter before the general discussion reports on the integration of multi-omics approaches, incorporating salivary microbiome and serum inflammatory markers to enhance prediction of asthma attacks in children.
The general discussion synthesized key findings, addressing methodological challenges, the necessity for standardization, and the importance of external validation in biomarker research. By leveraging omics technologies and advanced analytical tools, this work contributes to the advancement of precision medicine in respiratory diseases. It underscores the potential for noninvasive diagnostic and monitoring strategies to improve early detection, potential personalized treatment, and overall patient outcomes.