scholarly journals Modeling Human Disease with Pluripotent Stem Cells: from Genome Association to Function

2013 ◽  
Vol 12 (6) ◽  
pp. 656-668 ◽  
Author(s):  
Florian T. Merkle ◽  
Kevin Eggan
2022 ◽  
Vol 11 (1) ◽  
Author(s):  
Xiaoxiang Lu ◽  
Jiajie Yang ◽  
Yangfei Xiang

AbstractStudying the etiology of human neurodevelopmental diseases has long been a challenging task due to the brain’s complexity and its limited accessibility. Human pluripotent stem cells (hPSCs)-derived brain organoids are capable of recapitulating various features and functionalities of the human brain, allowing the investigation of intricate pathogenesis of developmental abnormalities. Over the past years, brain organoids have facilitated identifying disease-associated phenotypes and underlying mechanisms for human neurodevelopmental diseases. Integrating with more cutting-edge technologies, particularly gene editing, brain organoids further empower human disease modeling. Here, we review the latest progress in modeling human neurodevelopmental disorders with brain organoids.


2013 ◽  
Vol 13 (2) ◽  
pp. 99-110 ◽  
Author(s):  
Richard Siller ◽  
Sebastian Greenhough ◽  
In-Hyun Park ◽  
Gareth J. Sullivan

Author(s):  
John T. Dimos ◽  
Irene Griswold-Prenner ◽  
Marica Grskovic ◽  
Stefan Irion ◽  
Charles Johnson ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Chingiz Underbayev ◽  
Siddha Kasar ◽  
Yao Yuan ◽  
Elizabeth Raveche

Human disease animal models are absolutely invaluable tools for our understanding of mechanisms involved in both physiological and pathological processes. By studying various genetic abnormalities in these organisms we can get a better insight into potential candidate genes responsible for human disease development. To this point a mouse represents one of the most used and convenient species for human disease modeling. Hundreds if not thousands of inbred, congenic, and transgenic mouse models have been created and are now extensively utilized in the research labs worldwide. Importantly, pluripotent stem cells play a significant role in developing new genetically engineered mice with the desired human disease-like phenotype. Induced pluripotent stem (iPS) cells which represent reprogramming of somatic cells into pluripotent stem cells represent a significant advancement in research armament. The novel application of microRNA manipulation both in the generation of iPS cells and subsequent lineage-directed differentiation is discussed. Potential applications of induced pluripotent stem cell—a relatively new type of pluripotent stem cells—for human disease modeling by employing human iPS cells derived from normal and diseased somatic cells and iPS cells derived from mouse models of human disease may lead to uncovering of disease mechanisms and novel therapies.


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