Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models
This work highlights the importance of using patient-derived intestinal organoids as a theranostic tool to predict the clinical benefit and thus increase the number of people with cystic fibrosis with access to the currently approved CFTRm therapies. While theratyping in cell lines is a valuable approach, additional testing in cystic fibrosis-derived organoids provides more reliable predictions for the individuals carrying rare CFTR variants.
Authors
- Pilar Azevedo (ORCID: https://orcid.org/0000-0001-7609-200X)
- Cláudia S. Rodrigues (ORCID: https://orcid.org/0000-0002-9922-1879)
- Tereza Doušová (ORCID: https://orcid.org/0000-0002-0184-5035)
- Ines Pankonien (ORCID: https://orcid.org/0000-0002-4622-7521)
- Carlos M. Farinha (ORCID: https://orcid.org/0000-0002-5467-1710)
- Iris A. L. Silva (ORCID: https://orcid.org/0000-0002-8062-5558)
- Violeta Railean (ORCID: https://orcid.org/0000-0003-3713-7089)
- Susana Castanhinha (ORCID: https://orcid.org/0000-0003-0762-7730)
- Sofia S. Ramalho (ORCID: https://orcid.org/0000-0002-7554-9802)
- Margarida D. Amaral (ORCID: https://orcid.org/0000-0002-0828-8630)
- Juliana Roda (ORCID: https://orcid.org/0000-0001-8990-779X)
Institutions
- University of Lisbon (PT)
- Charles University (CZ)
- University Hospital in Motol (CZ)
- Hospital de Dona Estefânia (PT)
- Necton (Portugal) (PT)
- Hospital de Santa Maria (PT)
- University of Coimbra (PT)
Publication Details
- Journal
- Molecular Diagnosis & Therapy
- Published
- 2025-09-13
- DOI
- https://doi.org/10.1007/s40291-025-00806-5
- Citations
- 3
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 4.56