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Primary Ciliary Dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population
  • Deborah Morris-Rosendahl
Deborah Morris-Rosendahl
Royal Brompton and Harefield Hospitals

Corresponding Author:[email protected]

Author Profile

Abstract

with other laboratory and clinical investigations. Early and accurate diagnosis of inherited conditions generally leads to better medical care for patients and their families, with improved knowledge of the natural history of the condition and early intervention. It is therefore essential that equitable access to such testing is established for indigenous and isolated populations, in order to further narrow the health disparity gap. Although supported by funding from a few sources, this study signals a success for the Silent Genomes Project, with one of the cases having been identified by whole genome sequencing within that project, after negative whole exome sequencing. Furthermore the study has potential life-changing clinical consequences and provides starting points for possible interventions for respiratory medicine in the Inuit population. These include increased awareness of the possibility of PCD in patients presenting with neonatal respiratory distress, bronchiectasis or otitis media leading to early intervention; and in conjunction with Inuit organizations and public health officials, targeted analysis of the DNAH11 variant in the population with the possible introduction of newborn screening for PCD.
15 May 2023Submitted to Pediatric Pulmonology
15 May 2023Review(s) Completed, Editorial Evaluation Pending
15 May 2023Submission Checks Completed
15 May 2023Assigned to Editor
23 May 2023Editorial Decision: Accept