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Published on: June 13, 2018
Modeling human disease with pluripotent stem cells: from genome association to function.
Florian T Merkle1, Kevin Eggan
1The Howard Hughes Medical Institute, the Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, and Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA.
Cell Stem Cell
|June 11, 2013
Summary
New gene-editing and stem cell technologies illuminate human disease mechanisms. This approach helps identify genetic variants contributing to disease and understand their molecular pathways for broad treatment development.
Area of Science:
- Genetics and Molecular Biology
- Stem Cell Biology
- Genomic Medicine
Background:
- Understanding human disease mechanisms is crucial for developing effective, broad-acting treatments.
- Advances in gene editing, stem cells, and genomics offer new avenues for disease research.
- Identifying the molecular basis of diseases can lead to targeted therapeutic strategies.
Purpose of the Study:
- To explore the integration of gene-editing technologies, induced pluripotent stem cells, and genomic studies.
- To present a workflow for investigating the role of genetic variants in disease phenotypes.
- To discuss the application of human pluripotent stem cells in understanding disease-associated genetic variants.
Main Methods:
- Utilizing gene-editing tools (e.g., CRISPR-Cas9) to modify specific genetic variants.
- Employing induced pluripotent stem cells (iPSCs) derived from patients or controls.
- Integrating genome-wide association studies (GWAS) and DNA sequencing data.
Main Results:
- Demonstrated a workflow to link candidate genetic variants to disease-relevant cellular phenotypes.
- Highlighted the potential of iPSCs to model the functional impact of genetic variations.
- Provided a framework for dissecting the molecular pathways influenced by disease-associated variants.
Conclusions:
- Combining advanced technologies offers powerful approaches to unraveling human disease complexities.
- Human pluripotent stem cells are valuable tools for functional genomics and disease modeling.
- This integrated strategy can accelerate the discovery of novel therapeutic targets for diverse patient populations.
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