cystic fibrosis

Cystic fibrosis is a monogenic disease caused by mutations in the CFTR gene, leading to multisystem dysfunction affecting the lungs, pancreas, and liver. CFTR modulator therapy, particularly the triple combination of elexacaftor/tezacaftor/ivacaftor, has transformed outcomes for the majority of patients carrying common mutations. Research now targets rare genotypes, mRNA therapy, and strategies to optimise modulator benefit across the lifespan.