Project

Study of the cardiovascular phenotype and etiopathogenetic mechanisms in pseudoxanthoma elasticum.

Code
1861724N
Duration
01 October 2023 → 30 September 2028
Funding
Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics not elsewhere classified
  • Medical and health sciences
    • Molecular and cell biology not elsewhere classified
Keywords
genodermatosis cellular pathwaysn clinical study
 
Project description

Pseudoxanthoma elasticum (PXE) is characterized by skin, ocular and cardiovascular manifestations, based on mineralization of elastic fibres. This project aims i) to gain insight in the cellular mechanisms leading to ectopic mineralization, ii) a comprehensive study of the cardiovascular phenotype of patients and their family and iii) to identify of modifier genes to optimize the follow-up of patients.