TY -的T1 BEAT-PCD(更好的实验pproaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.04601-2020 VL - 57 IS - 2 SP - 2004601 AU - Goutaki, Myrofora AU - Crowley, Suzanne AU - Dehlink, Eleonora AU - Gaupmann, René AU - Horton, Katie L. AU - Kouis, Panayiotis AU - Lam, Yin Ting AU - Loges, Niki T. AU - Lucas, Jane S. AU - Roehmel, Jobst F. AU - Shoemark, Amelia Y1 - 2021/02/01 UR - //www.qdcxjkg.com/content/57/2/2004601.abstract N2 - The need for collaborative research networks as an effective way forward to improve diagnosis and care of rare inherited diseases is constantly highlighted and primary ciliary dyskinesia (PCD) is no exception. PCD affects 1 in 10 000 people and is genetically and clinically heterogeneous. Dysfunction of motile cilia, caused by defects in one of more than 50 genes, leads to poor mucociliary clearance and progressive upper and lower respiratory disease. Clinical symptoms include neonatal respiratory distress, chronic lung disease with bronchiectasis, rhinosinusitis and hearing impairment, and also infertility and laterality defects. 50% of patients have situs inversus and 6–12% have other defects, such as congenital cardiac disease [1, 2]The BEAT-PCD ERS CRC is a large multidisciplinary network of researchers and healthcare professionals aiming to advance clinical and translational research in different areas of primary ciliary dyskinesia building upon previous collaborative initiatives https://bit.ly/39h3veZThis article was written on behalf of the BEAT-PCD Clinical Research Collaboration members. Management Committee members: Co-chairs: Amelia Shoemark and Myrofora Goutaki. WP leaders and co-leaders (alphabetical order): Laura Behan, Mieke Boon, Mathieu Bottier, Suzanne Crowley, Eleonora Dehlink, Ernst Eber, Nagehan Emiralioglu, Panayiotis Kouis, Claudia E. Kuehni, Marie Legendre, Niki T. Loges Jane S. Lucas, Bernard Maitre, Kim G. Nielsen, Ana Reula and Jobst Roehmel. Advisory board members: Heymut Omran (head of ERN-LUNG PCD core), Claire Hogg (Lead of BEAT-PCD COST training school), Lucy Dixon (UK PCD support group representative), Jens Brillault (German PCD support group representative), Rene Gaupmann, Katie Horton and Yin Ting Lam (PhD representatives). European Lung Foundation representative: Jeanette Boyd. We would like to thank all members of the BEAT-PCD networks and all patients supporting our activities as well as the ERS office for their support. ER -