Translational Session
APOL1, Nephrotic Syndrome, and HNF1B: Expanding Phenotypes and Mechanisms in Genetic Diseases
November 05, 2023 | 09:30 AM - 11:30 AM
Location: Room 107, Pennsylvania Convention Center
Session Description
More than 600 genes have been identified as causal or risk factors for kidney conditions that lead to developmental, glomerular, tubulointerstitial, and electrolyte disorders. In this session, we focus on the role of genomic variants in both kidney and extrakidney manifestations of these conditions and discuss the overlap between causal and risk variants in these genes and risk factors; for example, APOL1, NPHS1, COL4A, and HNF1B.
Learning Objective(s)
- Define the molecular basis for extrakidney manifestations of hereditary nephrotic syndrome
- Explain the clinical utility for APOL1 testing in management of CKD
- Describe the role of common variants in mendelian disease genes as risk factors for CKD
- Outline extrakidney manifestations of HNF1B mutation
Learning Pathway(s)
- Genetic Diseases and Development
- Pediatric Nephrology
Moderators
Presentations
- Molecular Mechanisms of Extrakidney Manifestations of Hereditary Nephrotic Syndrome
09:30 AM - 10:00 AM
- Integrating APOL1 Testing into Clinical Practice
10:00 AM - 10:30 AM
- The Many Faces of HNF1B Mutations
10:30 AM - 11:00 AM
- Common Variants in Mendelian Disease Genes as Risk Factors for CKD
11:00 AM - 11:30 AM