Rare genetic lung diseases

For patients with rare genetic lung diseases such as cystic fibrosis (CF) (Barry, PJ. et al., 2021) (Middleton, PG. et al., 2019), primary ciliary dyskinesia (PCD) (Roehmel, JF. et al., 2022) and interstitial lung diseases in children (chILD) (Duerr, J. et al., 2020) as well as rare lung diseases with novel clinical phenotypes, there is a great unmet need to improve diagnostics as a basis for initiation of specific therapy. We aim to improve diagnostics by expanding current genetic testing (panel analysis and exome sequencing) to whole genome sequencing and analysis. The establishment of the molecular diagnosis by the identification of disease-causing mutations will directly lead to the initiation of specialised care to improve patient outcomes. For patients with novel rare lung disease phenotypes, unravelling of disease-causing genes and/or mutations will form the basis for understanding the underlying disease mechanisms and the development of individualized therapies.