Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.
Ceren Ayça YıldızMerve Selcuk BalcıŞeyda KarabulutZeynep Münteha BaşerMine Yüksel KalyoncuNeval Metin ÇakarMüge Merve Akkitap YiğitEda Esra BaysalFulya ÖzdemircioğluBurcu UzunoğluGamze TaştanAlmala Pınar ErgenekonYasemin GökdemirEla Erdem EralpFazilet KarakoçPınar AtaBülent KaradağPublished in: Pediatric pulmonology (2024)
The study highlights the importance of detecting the variants of ineligible patients in detail to guide future approaches for more targeted and effective interventions in CF care. Testing the effectiveness of CFTR modulators for rare or newly occurring variants is crucial to ensure equal access for pwCF to these therapies from different racial backgrounds and ethnic minorities.
Keyphrases
- cystic fibrosis
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- genetic diversity
- healthcare
- small molecule
- peritoneal dialysis
- pseudomonas aeruginosa
- systematic review
- prognostic factors
- copy number
- patient reported outcomes
- physical activity
- gene expression
- chronic obstructive pulmonary disease
- cancer therapy
- affordable care act