Project

Study of monogenic cutis laxa syndromes: paradigms for elastic fiber homeostasis

Duration
01 January 2016 → 31 August 2021
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Cardiac and vascular medicine
    • Dermatology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Cardiac and vascular medicine
    • Dermatology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Cardiac and vascular medicine
    • Dermatology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
Keywords
genetics Cutis Laxa zebrafish exome analysis
 
Project description

Cutis laxa syndromes are a heterogeneous group of rare connective tissue disorders clinically characterized by loose redundant skin folds, reflecting impaired elastic fiber homeostasis. We will further characterize the arterial tortuosity syndrome, apply exome sequencing to identify novel genes in selected families from the Ghent patient cohort, and investigate the pathomechanisms in genetically modified zebrafish models using CRISPR-CAS9 technology.