Project

Study of the molecular background and pathophysiology of monogenic disorders with structural cardiovasuclar anomalies

Code
FWO14/FKM/001
Duration
01 October 2014 → 30 September 2024
Funding
Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics not elsewhere classified
    • Systems biology not elsewhere classified
  • Medical and health sciences
    • Cardiac and vascular medicine not elsewhere classified
    • Laboratory medicine not elsewhere classified
    • Medical systems biology not elsewhere classified
    • Molecular and cell biology not elsewhere classified
    • Cardiac and vascular medicine not elsewhere classified
    • Laboratory medicine not elsewhere classified
    • Medical systems biology not elsewhere classified
    • Molecular and cell biology not elsewhere classified
    • Cardiac and vascular medicine not elsewhere classified
    • Laboratory medicine not elsewhere classified
    • Medical systems biology not elsewhere classified
    • Molecular and cell biology not elsewhere classified
Keywords
arterial tortuosity Cardiovascular development
 
Project description

The development and homeostasis of the cardiovascular system is studied in 3 subprojects:

1) Creation and etiopathogenetic study of slc2a10 and gulo double knockout mice and slc2a10 knockout zebrafish as models for arterial tortuosity syndrome.

2) Exome sequencing in rare elastinopathies without known genetic defect

3) Evaluation of somatic mozaicism and de novo mutations underlying congenital cardiopathies using exome sequencing.