[Patient-derived iPS cells as a tool for gene therapy research]

Gene therapy targeting hematopoietic stem cells (HSC) can now be recognized as a curative treatment option for patients with genetic disorders, including primary immunodeficiency (PID) diseases. Despite an increasing number of successfully treated cases, the therapeutic benefits still vary considerably among trials. To further optimize HSC gene therapy, it is hoped that a research model system capable of faithful recapitulation of the disease phenotypes can be established. Recently, a new model system that may meet this goal has become a reality; that is, patient-derived induced pluripotent stem cells (iPSCs). iPSCs are useful for modeling genetic disorders, because of their potential to differentiate into various types of somatic cells while retaining the specific genetic mutations. They are also susceptible to genetic manipulation in vitro, thus enabling pre-clinical assessment of candidate treatment strategies for their performance. This article introduces a proof that patient-derived iPSCs represent an invaluable tool for modelling genetic diseases such as PIDs, and also provide an indispensable research model usable for the development of ideal therapeutic modalities.