Human embryonic stem cells and induced pluripotent cells as models for research of human genetic diseases

Project Details


Since 2002 we derive human embryonic stem cells (hESC) derived from embryos surplus to in vitro fertilisation (IVF) treatment of shown to be affected after preimplantation genetic diagnosis. At this moment we have derived 26 stem cell lines, eighteen of which carry one (or two) genetic mutations.
HESC are pluripotent cells that are capable to remain in undifferentiated state and at the same time can differentiate to all three embryonic germ layers. These unique characteristics make the cells a very attractive tool for future cell therapy. A second important application which many researchers consider to be available on short term, is to use these cells as research models.
HESC with or without genetic mutations have great potential for the study of early human development, as models for drug development, toxicology studies and for modelling human diseases, in particular those for which no animal model is available. We have a particular interest in diseases caused by dynamic mutations (eg Huntington's diseases, Steinert's disease and fragile X syndrome) due to the lack of accurate animal models and because the behaviour of the mutations in stem cells can model early development.
A the end of 2007 a number of groundbreaking articles appeared on the reprogramming of somatic cells into pluripotent cells by the simple transfection with four genes. These iPSC would represent a better source of material than hESC in regenerative medicine, because the patient's own cells would be produced without the risk of rejection. Moreover, ethical objections towards the destruction of embryos would not be valid anymore.


a. Obtain iPSC that carry monogenic diseases such as cystic fibrosis, but in particular those carrying dynamic mutations such as myotonic dystrophy or Huntington's disease

b. Compare hESC and iPSC concerning the behaviour of dynamic mutations and evaluate these cells for their value as in vitro model for early development.
Effective start/end date1/09/0931/08/16


  • reproductive genetics
  • andrology
  • clinical genetics
  • embryology
  • assisted reproductive technology

Flemish discipline codes

  • Gynaecology and obstetrics
  • Molecular and cell biology
  • Genetics