This session will focus in the first part on nonsense mutations. Dr Hinzpeter will address the issue of the variability of read-through according to the different CFTR nonsense mutations. Dr Bedwell will present identification of new compounds for patients carrying nonsense mutations In the second part of the symposium, Dr B Kerem will present the new pharmacological approaches for splicing modulation Finally, Dr Van Goor will present the results of a study of ivacaftor in rare mutations with a phenotype genotype perspective.
Summarize main molecular consequences of nonsense mutations.
Summarize molecular consequences of CFTR splicing mutations.
Discuss therapies available for CFTR nonsense mutations read-through.