Modelling of primary ciliary dyskinesia using patient-derived airway organoids

Jelte van der Vaart, Lena Böttinger, Maarten H Geurts, Willine J van de Wetering, Kèvin Knoops, Norman Sachs, Harry Begthel, Jeroen Korving, Carmen Lopez-Iglesias, Peter J Peters, Kerem Eitan, Alex Gileles-Hillel, Hans Clevers

Research output: Contribution to journal/periodicalArticleScientificpeer-review

18 Citations (Scopus)


Patient-derived human organoids can be used to model a variety of diseases. Recently, we described conditions for long-term expansion of human airway organoids (AOs) directly from healthy individuals and patients. Here, we first optimize differentiation of AOs towards ciliated cells. After differentiation of the AOs towards ciliated cells, these can be studied for weeks. When returned to expansion conditions, the organoids readily resume their growth. We apply this condition to AOs established from nasal inferior turbinate brush samples of patients suffering from primary ciliary dyskinesia (PCD), a pulmonary disease caused by dysfunction of the motile cilia in the airways. Patient-specific differences in ciliary beating are observed and are in agreement with the patients' genetic mutations. More detailed organoid ciliary phenotypes can thus be documented in addition to the standard diagnostic procedure. Additionally, using genetic editing tools, we show that a patient-specific mutation can be repaired. This study demonstrates the utility of organoid technology for investigating hereditary airway diseases such as PCD.

Original languageEnglish
Pages (from-to)e52058
JournalEMBO Reports
Issue number12
Publication statusPublished - 06 Dec 2021


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