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Summary of our research
A research team led by Dr. Ryotaro Hashizume from the Graduate School of Medicine (a member of the Unit for Genomic Manipulation and Technology Development) has developed a pioneering technique for eliminating the extra copy of chromosome 21 in cells derived from individuals with Down syndrome. Down syndrome is caused by trisomy, where there are three copies of chromosome 21 instead of the usual two, leading to intellectual developmental disabilities and other complications. Approximately one in every 700 births is affected by this condition. Until now, there has been no effective technology to eliminate the extra chromosome, which is the root cause of the syndrome, from the cells.
The research team employed the CRISPR-Cas9 genome editing technology to target and remove the extra chromosome 21 with a success rate of up to 37.5%. Furthermore, they confirmed that in the cells with normalized chromosomes, characteristics such as gene expression patterns, cell proliferation speed, and antioxidant capacity were also restored to normal levels.
Moreover, this technology was demonstrated to be effective in differentiated cells (fibroblasts) and non-dividing cells. The results of this study represent a significant step towards establishing a technique to eliminate the extra chromosome itself, which is the fundamental cause of Down syndrome. In the future, this approach is expected to contribute to the prevention and improvement of various complications associated with this condition.
Press release article on EurekAlert!
(2025.2.27 Partially corrected)
Researcher information
Ryotaro Hashizume：Lecturer Graduate School of Medicine
Specialized ares：Pathology, Genetics, Regenerative medicine
Current research field：
・Basic research aimed at clinical implementation of gene expression regulation and chromosome manipulation techniques.
・Genome-level pathological and clinical genetic studies.