| Description |
Primary Ciliary Dyskinesia (PCD) is a rare genetic multiorgan disease that mainly affects the upper and lower airways and is characterised by genetic and phenotypic variability. Diagnosis has evolved over the years, but it remains complex and requires high expertise. The newly published international guidelines on PCD diagnosis recommend a combination of several tests since no single test can reliably diagnose all patients with PCD. These tests, which include nasal nitric oxide measurement, assessment of ciliary beat pattern by high-speed video microscopy, immunofluorescence analysis of ciliary proteins, transmission electron microscopy, and genetic testing, are not always available and rarely are performed in all patients, especially those diagnosed several years ago, when some tests did not exist. The Swiss PCD registry (CH-PCD) is a patient registry (www.clinicaltrials.gov; identifier NCT03606200) enrolling people with test-confirmed or clinical diagnoses of PCD in Switzerland. Patients with a clinical PCD diagnosis have a strong clinical suspicion e.g., situs anomalies, persistent cough, persistent rhinitis, chronic or recurrent upper or lower respiratory infections, or history of neonatal respiratory symptoms as term infants, but have not completed the diagnostic algorithm and have negative or ambiguous results for the tests performed so far. In this master project, the student will contribute to the completeness of the diagnostic information in the CH-PCD, via data entry of the medical reports from the hospitals or diagnostic centres diagnosing people with PCD in Switzerland, including on site data collection. The student will also perform analyses of the entered data to describe the updated diagnostic information of people included in the CH-PCD and identify potential factors that might explain test performance e.g., age, period of initial diagnosis, residence area. In addition, they will compare diagnostic test performance before and after the establishment of the PCD UNIBE diagnostic lab in Bern, which is the first comprehensive PCD diagnostic centre in Switzerland. This will involve 2 months of full-time work. If the student is interested, an MD thesis leading to a publication could be appended, involving a total of 6 months full-time work equivalent. The project is supervised by PD Dr. Myrofora Goutaki and Vasiliki Gkatzou (MD). |
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