[MS10-4B-1] Overview of iPSC research on pediatric neurological diseases
Following the historic success of generating induced pluripotent stem cells (iPSCs) from somatic cells by Yamanaka et al. in 2007, iPSC technology has quickly become an integral part of the research on regenerative medicine as well as the pathogenesis and treatment of human diseases. In the latter case—because non-human animal models (such as rodents) may not faithfully represent human pathology—patient-derived iPSCs have been established in various areas of disease to identify key mechanisms and develop safe, effective drugs for human patients.
The state of the art with respect to iPSC is quite similar in the pediatric neurology field. A considerable amount of research dealing with iPSCs in pediatric neurology has been published, including studies on malformations of cortical development, early-onset genetic epilepsies, Rett syndrome, Angelman/Prader-Willi syndrome, Friedreich's ataxia, autism, spinal muscular atrophy, Cockayne syndrome, Williams syndrome, Huntington disease, adrenoleukodystrophy, Gaucher disease, Pompe disease, Duchenne muscular dystrophy, etc.. Pediatric diseases are generally "early onset" compared to adult diseases and may be suitable for generating iPSC models. Although some findings are promising, many issues remain unsolved, such as cellular heterogeneity in its genetic/epigenetic background, type of induced neurons, maturational status, and lack of sufficient neuronal networking.
In this presentation, I will briefly introduce the current situation of iPSC research focusing on pediatric brain diseases and discuss current issues and future perspectives of these areas.
The state of the art with respect to iPSC is quite similar in the pediatric neurology field. A considerable amount of research dealing with iPSCs in pediatric neurology has been published, including studies on malformations of cortical development, early-onset genetic epilepsies, Rett syndrome, Angelman/Prader-Willi syndrome, Friedreich's ataxia, autism, spinal muscular atrophy, Cockayne syndrome, Williams syndrome, Huntington disease, adrenoleukodystrophy, Gaucher disease, Pompe disease, Duchenne muscular dystrophy, etc.. Pediatric diseases are generally "early onset" compared to adult diseases and may be suitable for generating iPSC models. Although some findings are promising, many issues remain unsolved, such as cellular heterogeneity in its genetic/epigenetic background, type of induced neurons, maturational status, and lack of sufficient neuronal networking.
In this presentation, I will briefly introduce the current situation of iPSC research focusing on pediatric brain diseases and discuss current issues and future perspectives of these areas.