ASN's Mission

To create a world without kidney diseases, the ASN Alliance for Kidney Health elevates care by educating and informing, driving breakthroughs and innovation, and advocating for policies that create transformative changes in kidney medicine throughout the world.

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Kidney Week

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