Back to today’s briefing

Story perspectives

Breakthrough Drug Restores Function in Rare Genetic Disorder

9/23/2025

46 7

Summary

Story summary

Tolvaptan stabilized nearly all mutated vasopressin V2 receptor (V2R) variants, restoring function.
Centre for Genomic Regulation in Barcelona engineered 7,000 V2R variants for the study.
87% of nephrogenic diabetes insipidus (NDI) mutations regained receptor functionality; NDI affects about 1 in 25,000 people.
Findings imply broader pharmacological chaperones may speed rare-disease therapies.

1 of 1

Story summary

Tolvaptan stabilized nearly all mutated vasopressin V2 receptor (V2R) variants, restoring function.
Centre for Genomic Regulation in Barcelona engineered 7,000 V2R variants for the study.
87% of nephrogenic diabetes insipidus (NDI) mutations regained receptor functionality; NDI affects about 1 in 25,000 people.
Findings imply broader pharmacological chaperones may speed rare-disease therapies.