Basic/Clinical Science Session
Revisiting Mendelian Kidney Diseases: Understanding Phenotype Variability
November 07, 2025 | 02:00 PM - 04:00 PM
Location: Room 360A, Convention Center
Session Description
From detailed clinical studies to population cohorts, variability among individuals affected with mendelian kidney diseases has become increasingly apparent. This session highlights current understanding of this phenomenon and ways to leverage the genetic basis of disease to stratify for disease progression.
Learning Objective(s)
- Describe variable penetrance and expressivity in mendelian traits
- Assess genetic background, environmental effects, and stochastic effects to explain phenotype variability
- Describe state-of-the-art methods to identify genetic modifiers
- Compare and contrast multidisciplinary approaches to understand phenotype variability among diverse genetic kidney diseases
Learning Pathway(s)
- Genetic Diseases and Development
Moderators
Presentations
- Understanding Variable Disease Severity in ADPKD
02:00 PM - 02:30 PM
- Identification of Genetic Modifiers of Cystic Kidney Diseases Using Zebrafish
02:30 PM - 03:00 PM
- Phenotypic Variability in Alport Kidney Diseases: Current State of Genotype-Phenotype Correlation
03:00 PM - 03:30 PM
- Strategies to Overcome Clinical and Genetic Heterogeneity in Congenital Anomalies of the Kidney and Urinary Tract
03:30 PM - 04:00 PM