The Palestinian primary ciliary dyskinesia population: first results of the diagnostic, and genetic spectrum

Accepted/In Press date: 4 February 2023

Published date: 1 March 2023

Additional Information: Funding Information: Support statement: N. Rumman was the recipient of a European Respiratory Society (ERS) Fellowship (STRTF 2014-6816). AAIR Charity (charity number 1129698) funded the whole-exome sequencing and Circassia loaned two Niox Mino analysers for this study. The National PCD Diagnostic Service at University Hospital Southampton is commissioned and funded by NHS England. Some authors are participants of BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD (COST Action BM 1407; ERS Clinical Research Collaboration). BEAT-PCD COST Action funded J.S. Lucas to visit N. Rumman to support the new PCD Service and development of this cohort in Palestine. N. Rumman was funded by an Academy of Medical Sciences Daniel Turnberg Travel Fellowship to visit H.M. Mitchison for completion of the genetic data. H.M. Mitchison acknowledges funding from Great Ormond Street Children’s Charity, NIHR Biomedical Research Centre at Great Ormond Street Hospital, the British Council Newton-Mosharafa Fund and Ministry of Higher Education in Egypt. Some authors participate in European Reference Network for Rare Respiratory Diseases (ERN-LUNG) project identifier number 739546. J.S. Lucas chaired the ERS Task Force for the development of a practice guideline for diagnosis of PCD (ERS TF-2014-04) and ERS Task Force for “Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesis: a technical standard”. M.R. Fassad is supported by a Wellcome Trust Collaborative Award in Science (210585/Z/18/Z). Funding information for this article has been deposited with the Crossref Funder Registry. Funding Information: Support statement: N. Rumman was the recipient of a European Respiratory Society (ERS) Fellowship (STRTF 2014-6816). AAIR Charity (charity number 1129698) funded the whole-exome sequencing and Circassia loaned two Niox Mino analysers for this study. The National PCD Diagnostic Service at University Hospital Southampton is commissioned and funded by NHS England. Some authors are participants of BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD (COST Action BM 1407; ERS Clinical Research Collaboration). BEAT-PCD COST Action funded J.S. Lucas to visit N. Rumman to support the new PCD Service and development of this cohort in Palestine. N. Rumman was funded by an Academy of Medical Sciences Daniel Turnberg Travel Fellowship to visit H.M. Mitchison for completion of the genetic data. H.M. Mitchison acknowledges funding from Great Ormond Street Children’s Charity, NIHR Biomedical Research Centre at Great Ormond Street Hospital, the British Council Newton-Mosharafa Fund and Ministry of Higher Education in Egypt. Some authors participate in European Reference Network for Rare Respiratory Diseases (ERN-LUNG) project identifier number 739546. J.S. Lucas chaired the ERS Task Force for the development of a practice guideline for diagnosis of PCD (ERS TF-2014-04) and ERS Task Force for “Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesis: a technical standard”. M.R. Fassad is supported by a Wellcome Trust Collaborative Award in Science (210585/Z/18/Z). Funding Information: Conflict of interest: N. Rumman received support for the present manuscript from two NIOX MINO devices from Circassia (previously called Aerocrine) to perform nasal nitric oxide testing and AAIR Charity funded whole-exome sequencing testing, and support for attending meetings and/or travel from the European Respiratory Society for a short term research training fellowship (3 months at Southampton University) (STRTF 2014-6816), outside the submitted work. M.R. Fassad received support for the present manuscript from a Wellcome Trust Collaborative Award in Science (210585/Z/18/Z). C. Driessens received support for the present manuscript from NHS England: work for this manuscript was performed while working for the National PCD Diagnostic Service at University Hospital Southampton; this service is commissioned and funded by NHS England. R. Pengelly received support for the present manuscript from Asthma Allergy and Inflammation Research. G. Wheway received support for the present manuscript from Asthma Allergy and Inflammation Research Trust; grants or contracts from UKRI COVID-19 Agile Response Fund, Wessex Medical Research/Rosetrees Trust PhD studentship, and Asthma Allergy and Inflammation Research Trust, outside the submitted work; stock or stock options for Illumina Inc., outside the submitted work; and receipt of equipment, materials, medical writing, gifts or other services from Synthego, outside the submitted work. H.M. Mitchison received support for the present manuscript from Great Ormond Street Children’s Charity, NIHR Biomedical Research Centre at Great Ormond Street Hospital, and British Council Newton-Mosharafa Fund and Ministry of Higher Education in Egypt. J.S. Lucas received grants or contracts from NIHR, AAIR Charity, and NHS England, outside the submitted work. The remaining authors have nothing to disclose. Publisher Copyright: © The authors 2023.

Local EPrints ID: 475215

URI: http://eprints.soton.ac.uk/id/eprint/475215

DOI: doi:10.1183/23120541.00714-2022

ISSN: 2312-0541

PURE UUID: 5df8d437-93a7-4c97-ade3-346d19ba58a8

ORCID for Corine Driessens: orcid.org/0000-0003-3767-7683

ORCID for Claire Jackson: orcid.org/0000-0002-1200-0935

ORCID for Reuben Pengelly: orcid.org/0000-0001-7022-645X

ORCID for James Thompson: orcid.org/0000-0002-9285-1317

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

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

Date deposited: 14 Mar 2023 17:43

Last modified: 17 Mar 2024 03:53