Precise treatment of cystic fibrosis – current treatments and perspectives for using CRISPR

ABSTRACT

Cystic fibrosis (CF) affects about 70,000 individuals worldwide, whose lives are shortened mainly due to chronic pulmonary infections resulting from impaired clearance of abnormally viscous airway mucus. The development of novel drugs targeting specific CFTR gene mutations in a precision medicine framework improved treatment, so that for patients born in 2000–2003 in the UK, the median life expectancy was estimated at around 40 years. Moreover the discovery of the CRISPR (Classes of Regularly Interspaced Palindromic Repeats) and Cas9 (Crispr-ASsociated) nuclease system opened the perspective of specifically correcting the defective CFTR gene as recently demonstrated in a model of intestinal stem cell organoids from CF patients. In the present review, we shall outline the existing state-of-art treatments and the perspectives for the precision treatment of CF opened by CRISPR.

KEYWORDS:

• Cystic fibrosis
• CFTR
• F508del mutation
• ivacaftor
• lumacaftor
• CRISPR

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.