Basic/Clinical Science Session
Advances in the Molecular Genetics and Protein Dynamics Underlying Ciliopathies
October 26, 2024 | 02:00 PM - 04:00 PM
Location: Room 4, Convention Center
Session Description
Ciliopathies are a clinically and genetically heterogeneous group of inherited disorders that affect a diverse array of human tissues. Phenotypically characterized human cohorts, advanced genomic technologies, and a multidisciplinary basic science research toolkit have led to vast knowledge of the molecular basis for ciliary disease. However, gaps remain in our understanding of ciliary dynamics and cell-type specific functions for ciliary proteins. This session explores the latest approaches and advances toward tackling these challenges.
Learning Objective(s)
- Summarize molecular genetics of the clinical entities defined as ciliopathies
- Explain how proteomics can elucidate protein networks relevant to ciliary function
- Describe the diversity of cellular roles for proteins known to function in the cilium
Learning Pathway(s)
- Genetic Diseases and Development
Moderators
Presentations
- Molecular Genetics of the Ciliopathies: Challenges and Opportunities
02:00 PM - 02:30 PM
- Elucidating Functional Cellular Modules and Protein Networks in Ciliopathies
02:30 PM - 03:00 PM
- Functional Proteomics and Live-Cell Microscopy to Understand Cellular Dynamics in Ciliopathies
03:00 PM - 03:30 PM
- Extraciliary Roles for Established Ciliary Proteins
03:30 PM - 04:00 PM