postdoctoral fellows
Position Postdoc
Research fields
  • Research Profile
  • Lavinija Mataković
    Position: Junior Postdoc:
    Email: l.matakovic@umcg.nl
    Supervisor: prof. dr. Sven C. D. van IJzendoorn

    Ongoing Project: Protein therapy for hereditary thrombophilia and haemophilia

    Disturbances of hemostasis, due to genetic factors, can lead to thrombotic or bleeding disorders. Several genetic defects in anticoagulant proteins, which are predominantly produced by the liver, have been found in patients with hereditary thrombophilia. These include nonsense mutations that cause a premature stop codon and a resultant complete loss of protein function. Current treatment based on the administration of exogenous anticoagulants come with limitations and other therapeutic strategies are needed. One strategy is to reduce the efficiency of translation termination that results from in-frame premature stop codons, thereby restoring the production of full-length functional proteins.

    Specific objectives:

    1. Generation of a cellular model for hereditary thrombophilia and haemophilia
      To obtain patient urine samples and generate patient-specific induced pluripotent stem cells (iPSCs) from renal epithelial cells, to further be differentiated to hepatocyte-like cells.
    2. Nonsense suppression therapy
      To test the effect of several read-through drugs, aminoglycosides (gentamicin and G418) and non-aminoglycosides drugs (PTC124) on different nonsense mutations found in thrombophilic and haemophilic patients.

    The use of patient-specific cells offers possibilities for the prioritization of patients for later clinical studies and therapy. This is the first step towards a new personalized “first-in-class” preventive treatment of hereditary coagulation diseases. The project Is founded by funded by the Dutch Thrombosis Foundation (Trombosestichting Nederland).

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