Kidney Week 2025 Early Program - Genetics in Clinical Nephrology-Welcome and Introduction

Video Transcription

Video Summary

Dr. Arlene Chapman opens an ASN genetics-and-nephrology course with logistics (disclosures, recordings, evaluations, prior 2023 sessions, CME credits) and frames the day around dispelling four “myths” in renal genetics: nephrologists don’t need genetic literacy, testing isn’t accessible, genetic kidney disease is rare, and diagnosis is the endpoint rather than the start of ongoing patient/family management. She presents a vignette of a 44-year-old woman with classic autosomal dominant polycystic kidney disease preparing for transplant; initial next-generation sequencing panel was negative. After clinician–lab discussion, expanded intronic analysis identified a pathogenic PKD1 intronic deletion causing abnormal splicing. Cascade testing showed both potential donor children were negative.

Asset Subtitle

Arlene B. Chapman, Emilie Cornec-Le Gall

Meta Tag

Module GENE

Speaker CO-CHAIRS CO-CHAIRS

Keywords

renal genetics myths

ASN genetics and nephrology course

genetic testing accessibility

autosomal dominant polycystic kidney disease (ADPKD)

PKD1 intronic deletion and abnormal splicing