Project

Identification of modifier genes underlying the phenotypic variability in the ‘Brittle Bone Disease’, using zebrafish models and patient-derived induced pluripotent stem cells

Code
01J12119
Duration
01 October 2019 → 30 July 2024
Funding
Regional and community funding: Special Research Fund
Promotor
Research disciplines
No data available
Keywords
Modifier Genes Brittle Bone Disease Zebrafish and iPSC models
 
Project description

We postulate that ‘modifier genes’ are responsible for the variable disease severity in Osteogenesis Imperfecta (OI), by altering the manifestations of the major mutated gene. We aim to identify the modifier genes contributing to the intra-familial phenotypic variability in OI, using zebrafish models and human induced pluripotent stem cells. These ‘modifiers’ represent promising targets for intervening in disease initiation/progression.