Project

Clinical and pathophysiological characteristics of ectopic calcification: from bench to bedside

Code
bof/baf/4y/2024/01/312
Duration
01 January 2024 → 31 December 2025
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Genetics
    • Clinical genetics and molecular diagnostics
    • Medical epigenomics
    • Medical genomics
    • Medical metabolomics
    • Medical transcriptomics
Keywords
disease mechanisms pseudoxanthoma elasticum ectopic mineralization treatment aging genetic diseases acquired disorders
 
Project description

Ectopic calcification (EC) is a complex process which is highly accelerated in aging, in a wide number of rare hereditary diseases as well as in common acquired disorders such as diabetes mellitus, chronic kidney and rheumatic diseases. Importantly, in all these conditions EC is directly associated to their morbidity and mortality. While this highlights the promise of EC as a hitherto overlooked target for diagnosis, risk stratification with preventive intervention and treatment, a comprehensive understanding of the causes and modulators of EC is missing. 

The overall objective of this project is to improve patient management and outcomes by identifying mechanisms underlying EC and its clinical variability, which can be useful in patient counseling, as disease biomarkers and for disease treatment. These aims are achieved by integrating deep phenotyping data of EC patients with data of various -omics approaches, cellular and animal models in an international collaborative context.