Article
Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.
Molecular diagnosis & therapy - 1 Jan 2026
Railean Violeta, Rodrigues Cláudia S, Pankonien Ines, Ramalho Sofia S, Silva Iris A L, Doušová Tereza, Castanhinha Susana, Azevedo Pilar, Roda Juliana, Farinha Carlos M, Amaral Margarida D
Abstract excerpt
BACKGROUND: Despite the approval of CFTR modulator (CFTRm) drugs for specific variants, many people with cystic fibrosis with non-eligible genotypes may still benefit from these medications. Indeed, recent studies show that some rare CFTR variants can be rescued by approved CFTRm drugs. OBJECTIVE: we assessed the efficacy of CFTRm drugs on eight rare CFTR variants: p.Pro5Leu, p.Pro205Ser, p.Leu206Trp,...
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