Rare (pulmonary) disease day: “feeding the breath, energy for life!”

Toward better management of rare and orphan pulmonary diseases

“…Therefore, cumulatively, rare pulmonary diseases account for a significant burden of disease, as many of them are severe conditions that result in premature death or major morbidity [10]. Furthermore, knowledge of rare diseases, or at least learning how to suspect them in a timely fashion, may reduce the usual diagnostic delay that is common to all of them and has very negative impacts on the prognosis of affected patients.…”

“…These are only a few of the many reasons why the European Respiratory Society (ERS) promotes and supports guidelines and statements, finances fellowship programmes and many others activities (some in partnership with patients' associations), and coordinates actions against rare pulmonary diseases with European health authorities [10]. With the organisation of courses and dedicated symposia during the ERS Copyright ©ERS 2016 International Congress and with the publication of articles in ERS publications, our Society plays a key role in the process of advancing medical research in this field [10].…”

“…With the organisation of courses and dedicated symposia during the ERS Copyright ©ERS 2016 International Congress and with the publication of articles in ERS publications, our Society plays a key role in the process of advancing medical research in this field [10]. Along the same line and following the same philosophy, the ERJ and ERR have recently published two series of review articles discussing hot topics presented at the Sixth International Meeting on Pulmonary Rare Diseases and Orphan Drugs, endorsed by the ERS, which took place in Milan, Italy, on February 27 and 28, 2015.…”

Rare pulmonary diseases: a common fight

“…ERN-LUNG is a network of healthcare providers dedicated to the care and investigation of patients suffering from rare respiratory diseases [16], which we believe can represent an important scientific support structure in the future. As a matter of fact and as already pointed out in one of our previous editorials [14], it is also important to identify uniform criteria for adoption by referral centres in the various European countries in the spirit of the "free circulation of patients within the European member states". In selected cases, it will also be crucial to establish dedicated European referral centres and networks capable of properly managing patients and therefore in a position to accumulate enough experience so as to maximise the necessary skills required in the management of particularly rare diseases [14].…”

“…In 2017, the committee included Yochai Adir (Israel), Katerina Antoniou (Greece), Harold Collard (USA), Marc Humbert (France), Joel Moss (USA), Venerino Poletti (Italy), Ganesh Raghu (USA), Gérald Simonneau (France), Carlo Vancheri (Italy), Athol Wells (UK) and Sergio Harari (Italy, Congress Chair). As for past editions of the meeting, when selected articles were published in the ERR (for editorials, see [11][12][13]), the current issue of the ERR contains articles based on some presentations from the 7th meeting, to affirm the engagement of the ERR in this area and more generally account for the space devoted by all ERS publications to rare diseases and orphan drugs as well as rare conditions linked to the most frequent pathologies (severe asthma, rare thoracic cancers and others), which share with rare diseases some aspects of research and methodology [11,14].…”