English version

Next generation sequencing to unravel the molecular basis of Platelet disorders

(Ref. DOCO-2017-2)

Tewerkstelling :
Plaats : Leuven
Solliciteren tot en met : 31/08/2017
The Center for Molecular and Vascular Biology (CMVB) at the KULeuven (Gasthuisberg) has a vacant position for a motivated researcher as part of the European collaboration represented by the UK Bridge Rare Disease Consortium.

Next generation sequencing to unravel the molecular basis of Platelet disorders

Attention! Financing for this position is not guaranteed, but will need to be applied for with the support of a supervisor at a scholarship organization. Applying to this position will bring you in contact with a potential supervisor.

The lab offers a dynamic and intellectually challenging environment, in close collaboration with experts from a wide variety of domains. For more information see link.


In this project, genetic large-scale studies in combination with functional in vitro studies will be used to characterize patients with “rare inherited Bleeding and Platelet Disorders (BPDs)”. Platelets are the 2nd most abundant cell in the blood and by controlling the balance between thrombosis and hemostasis they play a pivotal role in CVDs. Mutations in platelet genes can result in a BPD, leading to thrombosis or bleeding problems. Our BPD collection includes 274 samples from patients without molecular diagnosis, for which we report hematological parameters, results of coagulation and functional platelet testing, description of morphological platelet studies and any other clinical phenotype. We joined the BRIDGE-Bleeding and Platelet Disorders consortium (BRIDGE-BPD) that was initiated in december 2012 to whole genome sequence 600 patients with BPDs (50% of samples are from UZ Leuven). In this project, by combining a genome-wide genome sequencing approach with knowledge of the platelet defect and extensive studies of the pathophysiology of BPDs, genes will be discovered that place pointers at new regulators of platelet function and/or formation. Functional genetics is next needed to characterize newly discovered genes. Therefore, we will use our expertise with transgenic zebrafish models to study gene effects on blood and endothelial cell development. In addition, in vitro megakaryocyte differentiation assays from genetically modified hematopoietic stem cells, are essential to characterize the identified molecular defects. Finally, detailed functional ex vivo studies using patients’-derived cells such as platelets and megakaryocytes derived from pluripotent stem cells or hematopoietic stem cells are ideal to study defects at the cellular level. 



Fulltime 4-years PhD position but the student will be asked to apply for a FWOgrant. 


For more information please contact Prof. dr. Kathleen Freson, mail: kathleen.freson@kuleuven.be.

You can apply for this job no later than August 31, 2017 via the

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