Project

Morphological, molecular and functional insights into the cardiovascular complications of autosomal dominant polycystic kidney disease

Code
1294725N
Duration
01 November 2024 → 31 October 2027
Funding
Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Epigenetics
Keywords
Interplay between flow Cardiovascular manifestations of ADPKD primary cilia and disease Light-sheet microscopy and deep learning
 
Project description
 

Autosomal dominant polycystic kidney disease (ADPKD), the most prevalent monogenetic disorder with an incidence of 1:500-1:1000, arises from mutations in the PKD1 or PKD2 genes. A particularly severe complication of ADPKD is the development of cardiovascular anomalies, including intracranial aneurysms, which pose a significant life-threatening risk upon rupture. In this research, I aim to harness the potential of a CRISPR/Cas9-engineered pkd1 animal model to gain comprehensive morphological, molecular, and functional insights into the cardiovascular complications associated with ADPKD. Utilizing advanced light sheet microscopy combined with deep learning image processing, I plan to delineate these anomalies in three dimensions. Subsequent functional studies will delve into endothelial calcium signaling, single-cell transcriptomics and spatial validation, aiming to unravel the specific cell states and gene signatures driving these pathologies. This will shed light on the underlying molecular mechanisms at play. Finally, I aim to explore whether reactivating PKD1 can reverse the cardiovascular manifestations of ADPKD. Overall, this project is poised to leverage these findings to provide pivotal preclinical evidence supporting ADPKD CRISPR/Cas9 gene therapy. I anticipate that this work will significantly enhance our understanding of ADPKD’s cardiovascular manifestations, offering both fundamental and translational insights that could improve therapeutic approaches.