NIH R01 · 2024
Project Summary: Autosomal dominant polycystic kidney disease (ADPKD) affects over 12 million people worldwide resulting in fluid-filled cysts in the kidney and liver and 5-10% of all kidney failure. The one FDA-approved therapy provides only a modest delay in ongoing growth of cysts in the kidney and liver that can progress to kidney failure and devastating abdominal pain. Approximately one third of ADPKD patients have non-truncating mutations in the primary disease gene PKD1/Polycystin-1(PC1), and a significant subset of these likely encode a version of PC1 that is pathogenic because of a quantitative rather than qualitative deficit at its site of action on the cell surface due to…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.