Genome Services Maastricht

Functional genomics

Functional genomics is a (part novel) activity within Clinical Genetics. Functional genomics uses several tools to characterize nucleotide variants with an unknown effect (VUS). We use known models or new models.

  • Induced pluripotent stem cell (iPSC) technology
    iPSC generation iPSC from fibroblasts
    Pericytes from muscle biopsie
  • Stemcell derived models
    iPSC or ES differentiation to cardiomyocytes
    iPSC or ES differentiation to myocytes
    iPSC or ES differentiation to Neuronal cells (location Nijmegen)
  • Zebrafish model
    Disease models/readouts:
    Cardiovascular; laminopathy
    Neurological; small-fiber neuropathy
    Metabolic; galactosemia
  • Tools (Morpholino-mediated knockdown):
    Knock-out lines (CrisPR/Cas9)
    Knock-in lines (CrisPR/Cas9)
    Reporter lines (Tol2 transgenesis)
  • Genetic engineering (of cell and animal models):
    Crisp/Cas
    DNA cloning, introduction of mutations and plasmid construction

Contact

When planning an experiment involving functional genomics, feel free to contact Florence Van Tienen, PhD (iPSC models) or Jo Vanoevelen, PhD (zebrafish models) for an initial consult.
E: gsm@mumc.nl