An integrated translational platform to improve the management and outcome of rare heritable connective tissue disease

01 January 2021 → 31 December 2025
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Vertebrate biology
  • Medical and health sciences
    • Medical genomics
    • Musculo-skeletal systems
    • Compound screening
  • Engineering and technology
    • Biofluid mechanics
Heritable connective tissue disease extracellular matrix rare disease genetics next generation sequencing gene editing deep phenotyping omics patients zebrafish models mouse models
Project description

This interdisciplinary project aims to improve the outcome of heritable connective tissue disease. Using deep phenotyping techniques in combination with advanced genetic analysis, both in the clinic and in animal models, we expect to uncover molecular mechanisms which will inform better disease management strategies. In parallel, we aim to identify novel therapeutic targets using unbiased phenotypic screening in zebrafish models.