Derivation and characterisation of human embryonic stem cells (hESC) with myotonic dystrophy, DUchennes muscular dystrophy or facioscapulohumeral dystrophy and differentiation of normal and affected hESC to myocytes.

Project Details


1. Development of a preimplantation genetic diagnosis (PGD) for fascioscapulohumeral dystrophy (FSHD). Because of the complexity of the mutation, a panel of linked markers will be used.
2. Derivation of embryonal stem cell lines from normal surplus embryos as well as embryos shown to be affected with myotonic dystrophy (DM1), Duchennes muscular dystrophy (DMD) and FSHD after PGD.
3. Differentiation of human embryonic stem cells (hES), derived from normal and affected embryos, to myoblasts and differentiated myocytes. This would not only be an important step towards the use of hES in therapy for muscle diseases, but these cells would be an important study material for the pathogenesis of muscle diseases in general and DM1 and FSHD in particular.
1. The development of PGD for FSHD will take about six months. From then on, patients will have treatment cycles and affected embryos will be available for the project.
2. The derivation of hES is already part of another project at ORG, but we expect an increase in the workload through the new collaboration with CEGE.
3. We expect to be able to replicate the experiments performed in mouse ES cells (mES) and to make a comparison between the behaviour of mES and hES. Furthermore, we hope to take the experiments further than the myoblast stage and to obtain fully differentiated human myocytes in vitro, from normal as well as from affected stem cell lines.
Effective start/end date1/01/0631/12/09


  • reproductive genetics
  • embryonic stem cells
  • preimplantation genetic diagnosis

Flemish discipline codes

  • Basic sciences
  • Biological sciences