Personalized Cystic Fibrosis Therapy and Research Center

摘要/摘要 囊性纤维化是由于囊性纤维化跨膜电导缺失或功能障碍所致 调节剂(CFTR)氯通道。CFTR中的缺陷与基因变异密切相关 Cftr基因是单个cf患者或cf患者群体中的亚组所特有的。因此，一个 个性化的医疗方法有助于根据独特的分子为患者个体化护理 以及与其CFTR基因相关的表型特征。这将推动成功的治疗 并将慢性疗法的潜在不良影响降至最低。鉴于我们CCHMC的CF中心 已经拥有出色的电子病历系统(EPIC)和特定部位IRB批准的基因 数据库可供临床和研究使用，我们打算利用这些能力来开发 个性化囊性纤维化治疗和研究中心(PCFC)，供个别患者(I)确定 他/她对一种特定形式的CF突变的易感性，以及ii)采取措施减轻早期发病 疾病。最后，CF研究的未来提供了各种CFTR靶向治疗的潜力(即， CFTR调节器)，以治疗CF的根本原因，目前有多个调节器处于不同阶段 发展。

SUMMARY/ABSTRACT Cystic Fibrosis results from the absence or dysfunction of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) chloride channel. Defects in CFTR are strongly associated with genetic variations in the CFTR gene that are unique to individual CF patients or to subgroups within the CF patient population. Thus, a personalized medicine approach helps customize care to individual CF patients based on the unique molecular and phenotypic characteristics associated with their CFTR gene. This will drive successful therapeutic outcomes and minimize potential adverse effects of chronic therapies. Given that our CF Center at CCHMC already has an excellent electronic medical record system (EPIC) and a site-specific IRB approved genotype database available for clinical and research use, we intend to leverage these capabilities to develop Personalized Cystic Fibrosis Therapy and Research Center (PCFC) for individual patients to (i) determine his/her susceptibility to a particular form of CF mutation, and ii) take steps to mitigate the early onset of the disease. Finally, the future of CF research offers the potential for a variety of CFTR-targeted therapies (i e., CFTR modulators) to treat the underlying cause of CF, with multiple modulators currently in different stages of development.