Description
Instructors: Marlen Lauffer, David Cheerie, Ryan Marks
Join us for an interactive workshop focused on evaluating disease-causing DNA variants for their eligibility for antisense oligonucleotide and gene editing therapies. Gain hands-on experience with the N1C guidelines, the first international consensus framework on assessing therapeutic eligibility of pathogenic variants. Through live variant assessments, participants will learn how to apply these guidelines in both clinical and research settings, equipping them with the knowledge and tools to implement in their own amenability screening programs.
Session Details:
- Introduction to individualized therapies and N1C frameworks. [10 min]
- Introduction to antisense oligonucleotide therapies and the N1C ASO guidelines [20 minutes]
- Live examples and interactive tutorial on ASOs: 4 examples + Q&A [60 minutes]
- Break [10 min]
- Introduction to gene editing therapies and the N1C gene editing guidelines [20 min]
- Live examples and interactive tutorial on gene editing: 4 examples + Q&A [60 minutes]
Learning Objectives:
- Define and summarize the possibilities and limitations of ASO therapies
- Define and summarize the possibilities and limitations of gene editing therapies
- Examine rare disease variants and determine their suitability for ASO therapy using the N1C guidelines
- Examine rare disease variants and determine their suitability for gene editing therapy using the N1C guidelines
- Utilize publicly available tools and resources in variant actionability assessment
- Identify emerging therapeutic strategies and their applications to rare disease patients
Additional Information:
Basic level.
