To find a cure for cystic fibrosis, there has been tremendous progress in the development of treatments that target the basic defect in the protein channel, CFTR. However, 10% of cystic fibrosis patients have rare CFTR mutations that are still without an approved CFTR-targeting drug. To identify relevant therapies for these patients, culture models using nasal, bronchial, and rectal tissue from individual patients allow functional, biochemical, and cellular detection of drug-rescued CFTR. Additionally, novel systems such as induced pluripotent stem cell-derived models are utilized to characterize CFTR mutations and identify treatments. State-of-the-art translational models were instrumental for CFTR modulator development and may become important for gene-based drug discovery and other novel therapeutic strategies.

为了找到囊性纤维化的治疗方法，针对蛋白质通道 CFTR 基本缺陷的治疗方法的开发取得了巨大进展。然而，10% 的囊性纤维化患者具有罕见的 CFTR 突变，这些突变仍未获得批准的 CFTR 靶向药物。为了确定这些患者的相关疗法，使用来自个体患者的鼻腔、支气管和直肠组织的培养模型允许对药物拯救的 CFTR 进行功能、生化和细胞检测。此外，诱导多能干细胞衍生模型等新型系统被用于表征 CFTR 突变并确定治疗方法。最先进的转化模型有助于 CFTR 调制器的开发，并且可能对基于基因的药物发现和其他新的治疗策略变得重要。