Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

Accepted/In Press date: 12 May 2022

e-pub ahead of print date: 21 June 2022

Published date: 17 November 2022

Additional Information: Funding Information: Conflict of interest: A. Shoemark has received grants from AstraZeneca. G. Wheway is currently employed by Illumina Inc. M.R. Loebinger has received consultancy or speaker fees from Insmed, AstraZeneca, Parion, Grifols and Armata. J.D. Chalmers has received grants or contracts from AstraZeneca, Boehringer Ingelheim, GlaxoSmithKline, Gilead Sciences, Novartis and Insmed; and received consultancy or speaker fees from AstraZeneca, Boehringer Ingelheim, Chiesi, GlaxoSmithKline, Insmed, Janssen, Novartis and Zambon. J.S. Lucas reports grants from NHS England, NIHR and AIR Charity. H.M. Mitchison is a Trustee of Ciliopathy Alliance. A. De Soyza reports grants from AstraZeneca, GlaxoSmithKline and Pfizer; consulting fees and lecture honoraria from Gilead, GlaxoSmithKline, AstraZeneca, LifeArc and 30T; participation on advisory board at Bayer; receipt of equipment from GlaxoSmithKline. All other authors have nothing to disclose. Funding Information: Acknowledgements: Study authors participate in the Bronch UK Consortium (www.bronch.ac.uk) who developed the inclusion groups within bronchiectasis for the 100,000 Genomes Project. Study authors and data contributors participate in the BEAT-PCD clinical research collaboration, supported by the European Respiratory Society. We acknowledge the BEAT-PCD Workpackage 2 team, for gene list input (WP2 Leads, Marie Legendre, Sorbonne Université, Paris, France and Suzanne Crowley, Oslo University Hospital, Oslo, Norway). Study authors participate in the EMBARC clinical research collaboration supported by the European Respiratory Society. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. The British Thoracic Society Audit 2017 data was provided by the British Thoracic Society (BTS). The contribution of all centres contributing to the BTS audit is gratefully acknowledged. This publication makes use of data provided by the British Thoracic Society Clinical Audit Programme which has no responsibility or liability for the accuracy, currency or correctness of this publication. Funding Information: Support statement: H.M. Mitchison acknowledges funding from the NIHR Biomedical Research Centre at Great Ormond Street Hospital and the Ministry of Higher Education in Egypt. The National PCD Service is commissioned and funded by NHS England; PCD research in Southampton is supported by NIHR Southampton Biomedical Research Centre, NIHR Clinical Research Facility, National Institute for Health Research (RfPB PB-PG-1215-20014; and 200470) and The AAIR Charity (registration number 1129698). Publisher Copyright: Copyright © The authors 2022.

Local EPrints ID: 457399

URI: http://eprints.soton.ac.uk/id/eprint/457399

DOI: doi:10.1183/13993003.00176-2022

ISSN: 0903-1936

PURE UUID: 417ab15b-40cd-47fc-b780-3df99ca3399c

ORCID for Gabrielle Wheway: orcid.org/0000-0002-0494-0783

ORCID for Jane Lucas: orcid.org/0000-0001-8701-9975

Date deposited: 07 Jun 2022 16:36

Last modified: 17 Mar 2024 07:19