Journalism of Courage
Could Down syndrome one day be corrected at the cellular level? Japanese scientists may have taken an extraordinary step toward that possibility, thanks to a groundbreaking application of gene-editing technology.
Researchers at Mie University in Japan have used CRISPR-Cas9 -- a molecular tool that can precisely cut DNA -- to remove the extra chromosome 21 responsible for Down syndrome in lab-grown human cells. Their findings were recently published in PNAS Nexus, a peer-reviewed scientific journal.
(Source: Freepik)
Led by Ryotaro Hashizume and his colleagues, the team developed a CRISPR-based system capable of targeting and eliminating the surplus chromosome in affected cells. The technique, called allele-specific editing, ensured that only the extra chromosome was removed without disrupting the normal ones. When this approach was applied to cells with trisomy 21, the researchers observed that the cells began to behave more like typical cells, growing faster and with less biological stress.
While still in its early stages, the research raises profound questions about whether we could, or even should, attempt to eliminate the root cause of Down syndrome.
(Source: Freepik)
How significant is the ability to remove an entire chromosome using CRISPR, and what challenges remain?
Dr Arohi Vardhan, child and adolescent psychiatrist at Cadabams Hospitals, tells indianexpress.com, “The recent scientific feat of using CRISPR technology to remove the extra copy of chromosome 21, the underlying cause of Down syndrome, represents a landmark achievement in genetic research. Medically, it signifies a shift from merely managing the condition to addressing its root cause at the genomic level. As a psychiatrist, I see in this not just the promise of chromosomal correction, but the possibility of reshaping the developmental and cognitive outcomes for individuals affected by the condition.”
(Source: Freepik)
However, she adds that translating this breakthrough from the lab to real-world therapies “is a complex challenge.” Precision must be ensured to avoid unintended genetic consequences, and safe, targeted delivery of gene-editing tools to living tissues remains a significant hurdle.
Though clinical application is still distant, Dr Vardhan notes, the significance of this development is unquestionable. It invites us to imagine a future where empathy and innovation work hand in hand -- offering not just hope, but meaningful improvements in quality of life for individuals with neurodevelopmental conditions.
(Source: Freepik)
How might this kind of gene editing affect early-stage embryos or foetuses
The recent Japanese study shows it’s possible to remove the extra chromosome 21 in lab-grown cells, offering a glimpse of future possibilities. “But if such editing were ever applied prenatally, it would raise major concerns, early embryonic cells repair DNA in error-prone ways, risking unintended mutations or chromosomal damage. Edits at this stage are heritable, and even precise changes may cause large deletions or mosaicism. While the science is advancing rapidly, applying it to embryos remains a distant and highly sensitive frontier,” states Dr Vardhan.
(Source: Freepik)
Ethical concerns associated with using gene-editing tools to eliminate conditions like Down syndrome
There are significant ethical questions raised by the potential use of gene-editing techniques to treat disorders like Down syndrome. The goal may be to lessen medical or developmental difficulties, but it also makes people think more deeply about how our society values the diversity of human experience.
Despite facing genuine obstacles and living with differing degrees of support, many people with Down syndrome can contribute significantly to their families, communities, and schools. Their experiences serve as a reminder that a medical diagnosis is not the only way to define quality of life. Dr Vardhan concludes, "As this technology develops, it must be directed not only by scientific rigour but also by inclusive ethical discourse, one that values human diversity, protects against stigma, and prioritises informed, compassionate decision-making."
(Source: Freepik)
