Stem Cells to Inform the Neurobiology of Mental Illness

  • Mandy Johnstone
  • Robert F. Hillary
  • David St. Clair
Part of the Current Topics in Behavioral Neurosciences book series (CTBN, volume 40)


The inception of human-induced pluripotent stem cell (hiPSCs) technology has provided an exciting platform upon which the modelling and treatment of human neurodevelopmental and neuropsychiatric disorders may be expedited. Although the genetic architecture of these disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and in vitro technologies to be refined to model specific high-penetrant genetic loci involved in both disorders. Animal models of neurodevelopmental disorders, such as schizophrenia and autism spectrum disorders, show limitations in recapitulating the full complexity and heterogeneity of human neurodevelopmental disease states. Indeed, patient-derived hiPSCs offer distinct advantages over classical animal models in the study of human neuropathologies. Here we have discussed the current, relative translational merit of hiPSCs in investigating human neurodevelopmental and neuropsychiatric disorders with a specific emphasis on the utility of such systems to aid in the identification of biomarkers. We have highlighted the promises and pitfalls of reprogramming cell fate for the study of these disorders and provide recommendations for future directions in this field in order to overcome current limitations. Ultimately, this will aid in the development of effective clinical strategies for diverse patient populations affected by these disorders with the aim of also leading to biomarker identification.


Affective disorders Autism Biomarkers Cerebral organoids hiPSCs In vitro models Schizophrenia 



MJ is funded by a Wellcome Trust Clinical postdoctoral research fellowship, The Sackler Foundation, The RS Macdonald Trust, and The Simons Initiative for the Developing Brain. RFH is a Wellcome Trust-funded translational neuroscience PhD student.


The authors declare that there is no conflict of interest.


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Mandy Johnstone
    • 1
  • Robert F. Hillary
    • 1
  • David St. Clair
    • 1
  1. 1.Division of PsychiatryRoyal Edinburgh Hospital, Centre for Clinical Brain Sciences, University of EdinburghEdinburgh, ScotlandUK

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