Extract
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]
Abstract
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/39h3veZ
Acknowledgements
This 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.
Footnotes
Conflict of interest: M. Goutaki has nothing to disclose.
Conflict of interest: S. Crowley has nothing to disclose.
Conflict of interest: E. Dehlink has nothing to disclose.
Conflict of interest: R. Gaupmann has nothing to disclose.
Conflict of interest: K.L. Horton has nothing to disclose.
Conflict of interest: P. Kouis has nothing to disclose.
Conflict of interest: Y.T. Lam has nothing to disclose.
Conflict of interest: N.T. Loges has nothing to disclose.
Conflict of interest: J.S. Lucas has nothing to disclose.
Conflict of interest: J.F. Roehmel has nothing to disclose.
Conflict of interest: A. Shoemark has nothing to disclose.
Support statement: This work was supported by the European Respiratory Society (grant: BEAT-PCD CRC funding). Funding information for this article has been deposited with the Crossref Funder Registry.
- Received December 22, 2020.
- Accepted December 24, 2020.
- ©The authors 2021. For reproduction rights and permissions contact permissions{at}ersnet.org
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