Functional Characterization and Pharmaceutical Targets in Common and Rare CFTR Dysfunctions

There have been major breakthroughs in the treatment of people with cystic fibrosis (CF) in recent years, largely due to the development of highly effective Cystic fibrosis transmembrane conductance regulator (CFTR) gene modulators. Underpinning the discovery of these modulator drugs have led to greater understanding of the structure and function of CFTR and how CFTR dysfunction can lead to the development of infection and inflammation in the airways, as well as issues at other organ sites. However, further scientific research is required in order to address many of the unsolved issues that remain in CF including rare mutations or alternative ways to restore CFTR function.

In considering the future of cystic fibrosis (CF) care, this Research Topic focuses on five key areas, which are discussed in this report: the changing epidemiology of cystic fibrosis; future challenges of clinical care and its delivery; identifying molecular targets and underlying physiology; and the discovery of emerging therapeutics.

1. Understanding the structure and function of CFTR
2. Functional characterization of CFTR rare mutations
3. Evaluation of how CFTR dysfunction can lead to the development of gut and lung infection and inflammation
4. Novel CFTR compounds, alternate ways to restore CFTR function and new pharmacological targets to control CF
5. Consequences of novel CFTR modulator therapies for inflammatory responses and mucus rheology in the lung and in the gut
6. Drug repositioning approaches towards CF inflammation and infection
7. Contribution to advances using different animal models of CF, as well as organoids