Down Syndrome and CRISPR/Cas9 – A Breakthrough in Genetic Correction
- BrainUp
- Jul 21
- 2 min read
Hi friends! Today, we're looking at groundbreaking research that opens new horizons in understanding and potentially correcting Down syndrome. Scientists are constantly seeking ways to improve quality of life, and advancements in genetic engineering offer significant hope.
Down Syndrome: What Is It and Why Is It Important?
Down syndrome is a genetic condition caused by an extra, third copy of chromosome 21 (Trisomy 21). It is the most common viable chromosomal abnormality, occurring in approximately 1 in 700 live births. This additional genetic material affects development and can lead to cognitive differences.
CRISPR/Cas9: The "Genetic Scissors" in Action
CRISPR/Cas9 technology, known as "genetic scissors," allows scientists to precisely "edit" DNA. Recent advances have demonstrated the feasibility of using the CRISPR/Cas9 system to eliminate entire chromosomes by inducing targeted cleavages at multiple sites across homologous chromosomes. This paves the way for potential therapeutic interventions addressing the fundamental genetic cause of disorders like Trisomy 21.
Japanese Research: Targeted Elimination of Chromosome 21
Researchers from Japan (Ryotaro Hashizume et al.) have made a significant stride forward. They developed an allele-specific method to selectively eliminate the extra chromosome 21 from human trisomy 21 induced pluripotent stem cells and fibroblasts.
How does it work?
The scientists were able to "cut out" a specific, pre-selected "extra" chromosome, without affecting the other two copies essential for cell viability. This is crucial because different chromosome copies can carry unique information, and it's vital to preserve the "correct" copies.
Improving Efficiency: The study showed that the number of cleavage sites and the corresponding chromosome elimination rate were proportional. Furthermore, temporary suppression of DNA damage response genes (like LIG4 and POLQ) significantly enhanced the chromosome loss rate.
Restoring Cell Function: After eliminating the extra chromosome 21, the cells not only survived but also reversibly restored their normal functions. Gene expression profiles were restored, with upregulated genes associated with cellular development, nervous system development, generation of neurons, and neurogenesis. Rescued clones also showed improved proliferation rates and reduced reactive oxygen species (ROS) production, indicating improved cellular fitness.
Broad Applicability: This approach proved effective not only in pluripotent stem cells but also in differentiated, non-dividing cells, such as skin fibroblasts.
Future Perspectives
This research represents a major breakthrough, laying the groundwork for more sophisticated medical interventions for Down syndrome. While extensive work remains to ensure safety and efficacy for human use, the ability to selectively remove an extra chromosome and restore cellular functions opens immense possibilities for developing new therapeutic strategies.
At BrainUp, we closely follow such news, as it inspires our work in unlocking every child's potential and overcoming developmental challenges.
Source: Ryotaro Hashizume et al. "Trisomic rescue via allele-specific multiple chromosome cleavage using CRISPR-Cas9 in trisomy 21 cells". PNAS Nexus, Volume 4, Issue 2, February 2025, pgaf022. Available at:
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