RFPT07-- Progress on Treatment of Noncoding & Nonsense Mutations

Over 2,200 CFTR variants exist and are classified based on their effect on the protein. Class I variants (e.g., nonsense, frameshift, severe splice-site) prevent the synthesis of adequate amounts of functional CFTR channels. While CFTR modulator drugs significantly benefit patients with mutations that retain protein expression, they are ineffective for Class I variants because there is no protein target, therefore leaving ~ 10% of CF patients without effective therapies and requiring the need for alternative strategies.
This session explores different strategies that are being developed to correct the basic defect caused by noncoding and nonsense variants.

Learning Objectives:
• Understand the basic principles through which noncoding and nonsense variants cause cystic fibrosis.
• Learn the process by low molecular weight compounds can tackle the different defects elicited by these variants to rescue CFTR expression and function
• Explain the nucleic acid-based approaches that can be used to rescue CFTR expression in noncoding and nonsense variants
• Explore CRISPR based gene editing strategies to correct CF-causing nonsense variants.