Human induced pluripotent cells in personalized treatment of monogenic epilepsies

Research output: Contribution to journal › Review › Research › peer-review

Standard

Human induced pluripotent cells in personalized treatment of monogenic epilepsies. / Mohammad, Nazanin A. ; Freude, Kristine; Haukedal, Henriette; Tümer, Asuman Zeynep; Møller, Rikke S.

In: Journal of Translational Genetics and Genomics, Vol. 2020, No. 4, 2020, p. 238-250.

Research output: Contribution to journal › Review › Research › peer-review

Harvard

Mohammad, NA, Freude, K, Haukedal, H, Tümer, AZ & Møller, RS 2020, 'Human induced pluripotent cells in personalized treatment of monogenic epilepsies', Journal of Translational Genetics and Genomics, vol. 2020, no. 4, pp. 238-250. https://doi.org/10.20517/jtgg.2020.29

APA

Mohammad, N. A., Freude, K., Haukedal, H., Tümer, A. Z., & Møller, R. S. (2020). Human induced pluripotent cells in personalized treatment of monogenic epilepsies. Journal of Translational Genetics and Genomics, 2020(4), 238-250. https://doi.org/10.20517/jtgg.2020.29

Vancouver

Mohammad NA, Freude K, Haukedal H, Tümer AZ, Møller RS. Human induced pluripotent cells in personalized treatment of monogenic epilepsies. Journal of Translational Genetics and Genomics. 2020;2020(4):238-250. https://doi.org/10.20517/jtgg.2020.29

Author

Mohammad, Nazanin A. ; Freude, Kristine ; Haukedal, Henriette ; Tümer, Asuman Zeynep ; Møller, Rikke S. / Human induced pluripotent cells in personalized treatment of monogenic epilepsies. In: Journal of Translational Genetics and Genomics. 2020 ; Vol. 2020, No. 4. pp. 238-250.

Bibtex

@article{082e7a2b496f4483b6fe8c580a52bcbd,
title = "Human induced pluripotent cells in personalized treatment of monogenic epilepsies",
abstract = "The broad application of next-generation sequencing in genetic diagnostics opens up vast possibilities for personalized treatment of patients with genetic disorders including monogenic epilepsies. To translate genetic findings into personalized medicine, mechanistic studies of the individual pathogenic variants and drug screening in patient-specific in vitro models are very crucial. Recently, human induced pluripotent stem cell (hiPSC) technologies have made it possible to generate patient-specific pluripotent cells, which can be directed to differentiate into any given cell type. These hiPSCs are ideal for generating neurons to investigate specific neurological/neurodevelopmental disorders. While two-dimensional single-cell models of hiPSC-derived neurons provide reliable investigation of synaptic transmission and plasticity, cerebral organoids are superior in regard to functional characterization and the study of cell-cell interactions in three-dimensional structures. In this review, we focus on monogenic epilepsies and discuss the application of hiPSC models in personalized drug treatment based on the patient{\textquoteright}s specific genetic variants.",
author = "Mohammad, {Nazanin A.} and Kristine Freude and Henriette Haukedal and T{\"u}mer, {Asuman Zeynep} and M{\o}ller, {Rikke S}",
year = "2020",
doi = "10.20517/jtgg.2020.29",
language = "English",
volume = "2020",
pages = "238--250",
journal = "Journal of Translational Genetics and Genomics",
issn = "2578-5281",
publisher = "OAE Publishing Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - Human induced pluripotent cells in personalized treatment of monogenic epilepsies

AU - Mohammad, Nazanin A.

AU - Freude, Kristine

AU - Haukedal, Henriette

AU - Tümer, Asuman Zeynep

AU - Møller, Rikke S

PY - 2020

Y1 - 2020

N2 - The broad application of next-generation sequencing in genetic diagnostics opens up vast possibilities for personalized treatment of patients with genetic disorders including monogenic epilepsies. To translate genetic findings into personalized medicine, mechanistic studies of the individual pathogenic variants and drug screening in patient-specific in vitro models are very crucial. Recently, human induced pluripotent stem cell (hiPSC) technologies have made it possible to generate patient-specific pluripotent cells, which can be directed to differentiate into any given cell type. These hiPSCs are ideal for generating neurons to investigate specific neurological/neurodevelopmental disorders. While two-dimensional single-cell models of hiPSC-derived neurons provide reliable investigation of synaptic transmission and plasticity, cerebral organoids are superior in regard to functional characterization and the study of cell-cell interactions in three-dimensional structures. In this review, we focus on monogenic epilepsies and discuss the application of hiPSC models in personalized drug treatment based on the patient’s specific genetic variants.

AB - The broad application of next-generation sequencing in genetic diagnostics opens up vast possibilities for personalized treatment of patients with genetic disorders including monogenic epilepsies. To translate genetic findings into personalized medicine, mechanistic studies of the individual pathogenic variants and drug screening in patient-specific in vitro models are very crucial. Recently, human induced pluripotent stem cell (hiPSC) technologies have made it possible to generate patient-specific pluripotent cells, which can be directed to differentiate into any given cell type. These hiPSCs are ideal for generating neurons to investigate specific neurological/neurodevelopmental disorders. While two-dimensional single-cell models of hiPSC-derived neurons provide reliable investigation of synaptic transmission and plasticity, cerebral organoids are superior in regard to functional characterization and the study of cell-cell interactions in three-dimensional structures. In this review, we focus on monogenic epilepsies and discuss the application of hiPSC models in personalized drug treatment based on the patient’s specific genetic variants.

U2 - 10.20517/jtgg.2020.29

DO - 10.20517/jtgg.2020.29

M3 - Review

VL - 2020

SP - 238

EP - 250

JO - Journal of Translational Genetics and Genomics

JF - Journal of Translational Genetics and Genomics

SN - 2578-5281

IS - 4

ER -

ID: 247544917