Modelling Human Disease with Pluripotent Stem Cells
Gareth J. Sullivan.
Recent progress in the field of cellular reprogramming has opened up the doors to a new era of disease modelling,
as pluripotent stem cells representing a myriad of genetic diseases can now be produced from patient tissue. These
cells can be expanded and differentiated to produce a potentially limitless supply of the affected cell type, which can then
be used as a tool to improve understanding of disease mechanisms and test therapeutic interventions. This process requires
high levels of scrutiny and validation at every stage, but international standards for the characterisation of pluripotent cells
and their progeny have yet to be established. Here we discuss the current state of the art with regard to modelling diseases
affecting the ectodermal, mesodermal and endodermal lineages, focussing on studies which have demonstrated a disease
phenotype in the tissue of interest. We also discuss the utility of pluripotent cell technology for the modelling of cancer
and infectious disease. Finally, we spell out the technical and scientific challenges which must be addressed if the field is
to deliver on its potential and produce improved patient outcomes in the clinic.
Keywords: Induced pluripotent stem cells, human embryonic stem cells, neurodevelopmental disorders, endodermal disorders,
mesodermal disorders, reprogramming, disease modelling
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