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30th Annual North American Cystic Fibrosis Conference

S14: NT: Small Molecule Intervention for Uncommon CFTR Mutations: Achieving Treatment for Every CF Patient

Oct 28, 2016 10:30am ‐ Oct 28, 2016 11:55am

Standard: $49.99


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.

Educational Objectives:
  • Summarize main molecular consequences of nonsense mutations.
  • Summarize molecular consequences of CFTR splicing mutations.
  • Discuss therapies available for CFTR nonsense mutations read-through.



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