ArticleBiochimica et biophysica acta. Molecular basis of disease2020
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Article in Biochimica et biophysica acta. Molecular basis of disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Intestinal Organoids as Models to Study Viruses: Current Application and Future Perspective.Journal of microbiology and biotechnology · 2026Review
- Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.Molecular diagnosis & therapy · 2026Article
- Organoid-on-a-chip (OrgOC): Advancing cystic fibrosis research.Materials today. Bio · 2025Review
- Article
- Head and neck cancer organoids as a promising tool for personalized cancer therapy: A literature review.Health science reports · 2022Review
- A new platform for high-throughput therapy testing on iPSC-derived lung progenitor cells from cystic fibrosis patients.Stem cell reports · 2021Article
- New Therapies to Correct the Cystic Fibrosis Basic Defect.International journal of molecular sciences · 2021Review
- Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids.Journal of personalized medicine · 2021Article
- Patient-Derived Organoids as a Model for Cancer Drug Discovery.International journal of molecular sciences · 2021Review
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundFor most of the >2000 CFTR gene variants reported, neither the associated disease liability nor the underlying basic defect are known, and yet these are essential for disease prognosis and CFTR-based therapeutics. Here we aimed to characterize two ultra-rare mutations - 1717-2A > G (c.1585-2A > G) and S955P (p.Ser955Pro) - as case studies for personalized medicine.
methodsPatient-derived rectal biopsies and intestinal organoids from two individuals with each of these mutations and F508del (p.Phe508del) in the other allele were used to assess CFTR function, response to modulators and RNA splicing pattern. In parallel, we used cellular models to further characterize S955P independently of F508del and to assess its response to CFTR modulators.
resultsResults in both rectal biopsies and intestinal organoids from both patients evidence residual CFTR function. Further characterization shows that 1717-2A > G leads to alternative splicing generating <1% normal CFTR mRNA and that S955P affects CFTR gating. Finally, studies in organoids predict that both patients are responders to VX-770 alone and even more to VX-770 combined with VX-809 or VX-661, although to different levels.
conclusionThis study demonstrates the high potential of personalized medicine through theranostics to extend the label of approved drugs to patients with rare mutations.
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