Research Summary

Genome editing technology allows us to rewrite the genetic information in virtually any species and any cell type including human cells. Our focus is on human iPS cells, a type of pluripotent stem cell that can be generated from patients’ cells by introduction of specific transcription factors, and differentiated into other cell types. Our goal is to use genome editing in iPS cells to both model human diseases, and develop new therapies. To achieve this goal, we are addressing the following challenges.

• To establish isogenic disease models for cardiomyopathy, hepatic disease, and neuronal disease to study their pathogenesis.
• To develop therapeutic strategies by transplantation of genetically engineered iPS cells to cure genetic disorders.
• To establish a way to directly manipulate genetic information in patients’ cells.
• To improve the accuracy and predictability of genome editing.

Our goal and approaches: By introducing or correcting pathogenic mutations in iPS cells, we can establish isogenic disease models to study molecular pathogenic mechanisms. We are modeling cardiomyopathy, hepatic disease, and neuronal disease. Genetically engineered iPS cells can also be used for transplantation therapies. We can potentially correct mutations in iPS cells derived from patients, or even engineer the cells to express therapeutic molecules. We are targeting metabolic diseases by cell transplantation therapies. Because human iPS cells maintain the normal human genomic information, genome editing in human iPS cells can be used as a model to develop a way to directly manipulate genetic information in patients’ cells. We are also trying to improve the accuracy and predictability of genome editing technology.