The science of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations with a focus on F508del in cystic fibrosis – Certificate of Completion

On completion of this program, participants will be better able to:

1. Recognise the classification of CFTR mutations (‘theratypes’) and potential impact on the severity of disease (‘classical’ vs ‘milder’)
2. Define determinants of total CFTR activity
3. Describe the F508del mutation and its pathobiology, including tissue-specific differences
4. Recognise the impact of the F508del mutation on total CFTR activity
5. Discuss the challenges for correction of the F508del CFTR mutation