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 September 2025

Funding

Regional and community funding: Special Research Fund

Promotor

Paul Coucke

Research disciplines

Medical and health sciences
- Genetics

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.