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Human pluripotent stem cells as models for disease (OZR2630)
Human pluripotent stem cells (hPSC) such as human embryonic stem cells (hESC) and induced pluripotent stem cells (iPSC) have been proposed as powerful tools for disease modelling, since they can be obtained from affected patients and embryos, and because of their ability to differentiate into any tissue of the human body. A general strategy consists in obtaining either hESC that carry a monogenic disease after preimplantation genetic diagnosis (PGD) or iPSC from eg skin biopsies of affected individuals. The hESC or iPSC can then be differentiated in vitro into any tissue affected by the disease of interest. We propose to develop a platform for disease modelling in monogenic diseases. Our large PGD activity and patient contacts will allow to expand our collection of hPSC that carry specific monogenic diseases. Furthermore, we will implement and improve efficient hPSC differentiation protocols now available. We will start with myotonic dystrophy type 1, a disease for which we hold several hPSC lines and which we have been studying for several years, also in collaboration with Prof. C. Pearson, a recognised expert in the field. We plan to differentiate our hPSC that carry the DM1 mutation into affected tissues such as neurons, cardiomyocytes and to study the mutation and its effect on the cells in vitro. This type of modelling may also offer a useful platform for drug and therapy development, circumventing the use of lab animals.
Date:1 Oct 2014 → 30 Sep 2015
Keywords:reproductive genetics, andrology, clinical genetics, embryology, assisted reproductive technology
Disciplines:Basic sciences, Biological sciences