理研

次世代ヒト疾患モデル研究開発チーム

次世代ヒト疾患モデル研究開発チーム

japanese
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  • We are conducting research aimed at understanding and overcoming diseases that significantly impact the lives of patients and their families, including designated intractable diseases, age-related disorders, and lifestyle-related diseases. With the advancement of genome sequencing technologies, a growing number of human genomic data and pathogenic variants have been identified in recent years. However, the functional mechanisms by which these variants contribute to disease onset remain largely unclear. Our team utilizes CRISPR/Cas9 genome editing technology to develop disease model mice that faithfully recapitulate patient-specific pathological conditions based on individual genomic information. We are particularly focused on neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), as well as renal diseases including Alport syndrome. For phenotypic and pathological analyses of the model mice, we employ the internationally standardized platform of RIKEN BRC. In close collaboration with clinical and pharmaceutical researchers, we also contribute to the development of diagnostic methods, therapeutic strategies, and drug discovery. We aim to advance preclinical research that lays the foundation for precision medicine.

Research Summary

Starting from patient genomic data, we introduce disease-associated variants into mice and analyze the resulting pathological phenotypes. The knowledge gained supports the development of diagnostics and therapies, feeding back into clinical practice. Our mission is to bridge the gap between basic research and clinical medicine, contributing to the future of healthcare.

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・Generation of genome-edited mice based on patient-derived genomic variants,
in collaboration with the Experimental Animal Division.

・Pathological Phenotyping through internationally standard platforms,
in collaboration with the Mouse Phenomics Division.

・Investigation of disease mechanisms and preclinical drug discovery,
in collaboration with external clinical researchers.

Next Generation Human Disease Model Research Team,

RIKEN BioResource Research Center

3-1-1 Koyadai, Tsukuba, Ibaraki, 305-0074, Japan

Mail: takanori.amano@riken.jp

Copyright © 2018 Next Generation Human Disease Model Research Team All Rights Reserved.
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