Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergence
Neuropsychiatric disorders (NPD) are prevalent and devastating, posing an enormous socioeconomic burden to modern society. Recent genetic studies of NPD have identified a plethora of common genetic risk variants with small effect sizes and rare risk variants of high penetrance. While exciting, there...
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| Format: | Article |
| Language: | English |
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De Gruyter
2023-08-01
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| Series: | Medical Review |
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| Online Access: | https://doi.org/10.1515/mr-2023-0016 |
| _version_ | 1797435686408683520 |
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| author | Duan Jubao |
| author_facet | Duan Jubao |
| author_sort | Duan Jubao |
| collection | DOAJ |
| description | Neuropsychiatric disorders (NPD) are prevalent and devastating, posing an enormous socioeconomic burden to modern society. Recent genetic studies of NPD have identified a plethora of common genetic risk variants with small effect sizes and rare risk variants of high penetrance. While exciting, there is a pressing need to translate these genetic discoveries into better understanding of disease biology and more tailored clinical interventions. Human induced pluripotent stem cell (hiPSC)-derived 2D and 3D neural cultures are becoming a promising cellular model for bridging the gap between genetic findings and disease biology for NPD. Leveraging the accessibility of patient biospecimen to convert into stem cells and the power of genome editing technology to engineer disease risk variants, hiPSC model holds the promise to disentangle the disease polygenicity, model genetic interaction with environmental factors, and uncover convergent gene pathways that may be targeted for more tailored clinical intervention. |
| first_indexed | 2024-03-09T10:51:49Z |
| format | Article |
| id | doaj.art-d5ec41fc5fba4da5b342f4104154cb2b |
| institution | Directory Open Access Journal |
| issn | 2749-9642 |
| language | English |
| last_indexed | 2024-03-09T10:51:49Z |
| publishDate | 2023-08-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Medical Review |
| spelling | doaj.art-d5ec41fc5fba4da5b342f4104154cb2b2023-12-01T07:18:51ZengDe GruyterMedical Review2749-96422023-08-013434735010.1515/mr-2023-0016Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergenceDuan Jubao0Center for Psychiatric Genetics, NorthShore University Health System Research Institute, Evanston, IL, USANeuropsychiatric disorders (NPD) are prevalent and devastating, posing an enormous socioeconomic burden to modern society. Recent genetic studies of NPD have identified a plethora of common genetic risk variants with small effect sizes and rare risk variants of high penetrance. While exciting, there is a pressing need to translate these genetic discoveries into better understanding of disease biology and more tailored clinical interventions. Human induced pluripotent stem cell (hiPSC)-derived 2D and 3D neural cultures are becoming a promising cellular model for bridging the gap between genetic findings and disease biology for NPD. Leveraging the accessibility of patient biospecimen to convert into stem cells and the power of genome editing technology to engineer disease risk variants, hiPSC model holds the promise to disentangle the disease polygenicity, model genetic interaction with environmental factors, and uncover convergent gene pathways that may be targeted for more tailored clinical intervention.https://doi.org/10.1515/mr-2023-0016brain organoidsgenomicsinduced neuronsinduced pluripotent stem cellneuropsychiatric disorder |
| spellingShingle | Duan Jubao Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergence Medical Review brain organoids genomics induced neurons induced pluripotent stem cell neuropsychiatric disorder |
| title | Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergence |
| title_full | Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergence |
| title_fullStr | Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergence |
| title_full_unstemmed | Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergence |
| title_short | Human stem cell modeling of neuropsychiatric disorders: from polygenicity to convergence |
| title_sort | human stem cell modeling of neuropsychiatric disorders from polygenicity to convergence |
| topic | brain organoids genomics induced neurons induced pluripotent stem cell neuropsychiatric disorder |
| url | https://doi.org/10.1515/mr-2023-0016 |
| work_keys_str_mv | AT duanjubao humanstemcellmodelingofneuropsychiatricdisordersfrompolygenicitytoconvergence |