Abstract
This symposium was held during the 2023 European Respiratory Society (ERS) International Congress in Milan, Italy. The main objective was to discuss unmet needs in the diagnosis and management of rare lung diseases, with a particular emphasis on alpha 1 antitrypsin deficiency (AATD) and idiopathic pulmonary fibrosis (IPF). Presentations focused on promising approaches to meet these needs, including the feasibility of genomic diagnosis, the development of improved biomarkers of disease progression, such as quantitative CT and novel blood biomarkers, the use of digital lung auscultation, and increased screening for AATD in vulnerable populations. The overarching message from the symposium was that advancements in technology, multidisciplinary collaboration, and partnerships between academic institutions, patient associations, and industry are crucial to the continued improvement of patient management in rare diseases, and that the education of healthcare professionals is vital to enhance the understanding and awareness of these conditions.