Toward better management of rare and orphan pulmonary diseases

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

“…Functional committees (research and clinical trials committee, ethical issues committee, registries and biobanks committee, patient-recorded outcomes and quality-of-life committee, quality management committee, guidelines and best practice of care committee, communication and outreach committee, cross-border care committee, training and continued medical education committee) The European Respiratory Society has always been very supportive of rare pulmonary disease research, education and care, and the society's publications regularly disseminate novel data and guidelines in these fields [50,51]. Of note, the society will endorse the 7th International Meeting on Pulmonary Rare Diseases and Orphan Drugs, which will take place in Milan, Italy on February 24-25.…”

Special Issue: Rare Respiratory Diseases: A Personal and Public Health Issue

“…Even with a reasonable estimate of 5% of rare diseases with a respiratory component, 1-2 million Europeans are likely to be affected by a rare respiratory disease. As a result, rare (respiratory) disorders are a public health and social issue [1][2][3].…”

Rare pulmonary disease and orphan drugs: a path to the future

“…We believe that rare diseases represent an important field of medicine not only for those pulmonologists who are skilled in diagnosing and treating particular groups of these illnesses, but also for all respiratory physicians. Sharing knowledge and exchanging updates among experts on different areas of clinical and basic research in respiratory medicine, with different specialised pulmonary medicine expertise, from vascular to interstitial lung diseases, is part of the stimulating challenge of providing new insights into science and clinical care, thus helping patients and supporting doctors [3].…”