13/09/2025
๐๐๐-๐๐๐๐ | ๐๐ฎ๐ฝ๐ฎ๐ป๐ฒ๐๐ฒ ๐๐ฐ๐ถ๐ฒ๐ป๐๐ถ๐๐๐ ๐๐๐ฒ ๐ด๐ฒ๐ป๐ฒ ๐ฒ๐ฑ๐ถ๐๐ถ๐ป๐ด ๐๐ผ ๐ฐ๐ฟ๐ฒ๐ฎ๐๐ฒ ๐๐ผ๐๐ป ๐ฆ๐๐ป๐ฑ๐ฟ๐ผ๐บ๐ฒ ๐ฏ๐ฟ๐ฒ๐ฎ๐ธ๐๐ต๐ฟ๐ผ๐๐ด๐ต
One snip is one down โ a small cut with the power to change a life before it truly begins. For many genetic conditions, that difference has been considered permanent, built into the very instructions that make us who we are. Now, for the first time, scientists have found a way to remove that change at its source.
Dr. Ryotaro Hashizume and colleagues at Mie University in Japan set out to explore down syndrome with a newly based treatment. Their approach relied on CRISPR-Cas9, a powerful gene-editing tool often nicknamed โgenetic scissorsโ for its ability to cut DNA at precise points.
Moreover, genetic disorders arise when mutations affect a personโs genes or chromosomes โ the threadlike packages that hold our DNA (Deoxyribonucleic Acid). One of the most common is a form of Down Syndrome caused by an extra copy of a chromosome.
Down syndrome, also known as trisomy 21, is a condition that arises from an extra copy of chromosome 21. Most people carry 46 chromosomes in 23 matched pairs, but those with this type of genetic disorder have three copies instead of two.
With this, the extra material disrupts the bodyโs development, influencing brain growth, muscle tone, or the function of multiple organs.
According to the Down Syndrome Association of the Philippines Inc. (DSAPI), there are about one in every 800 babies born with the condition each year. Its prevalence means thousands of Filipino families face the lifelong challenges of the conditionโ from medical complications to the social and economic barriers it may create.
The exact cause of the chromosomal error is still unknown. While medical care can help children grow, learn, and stay healthy, no existing treatment can remove the extra chromosome from their cells.
For decades, researchers have wondered whether it might be possible to correct such a large genetic change, rather than simply managing its effects.
With that, CRISPR has been used before to fix small mutations. Dr. Hashizumeโs team developed a version aimed specifically at the surplus chromosome 21. By making multiple cuts across it, they trigger the cellโs natural repair systems to recognize it as a damaged part and discard it altogether.
They tested the method on two types of lab-grown cells from a person with Down Syndrome: skin cells and stem cells, offering unique insights into the effects of the method.
The specific skin cells used in the study were fibroblasts, found in the skinโs connective tissue. They are responsible for producing structural proteins that maintain skin integrity and aid in wound repair.
Meanwhile, stem cells can develop into nearly any type of cell in the body โ from nerve and muscle cells to heart and brain cells, making them valuable for understanding disorders and their development over time.
By using both skin and stem cells, the researchers could observe the effects of the gene-editing tool in two scenarios: on fully developed cells and on cells that model early growth.
In nearly one-third of the treated cells, the extra chromosome was completely removed โ a process scientists call trisomic rescue. Even more striking, the โrescuedโ cells began to behave like typical cells, showing steadier growth and more balanced activity in genes tied to brain function and energy use.
This breakthrough showed that not only could the extra chromosome be removed, but the treated cells also started functioning more like normal cells.
However promising, the method is unsuitable for use in living organisms as it may alter remaining healthy chromosomes.
Although the work is still in its early stages, it represents a milestone in genetics: the first documented removal of a whole extra chromosome in human cells. Much more research will be needed before the technique can be considered for use in people, including fine-tuning its accuracy, ensuring it is safe, and figuring out how to deliver it to the right cells inside the body.
Yet this breakthrough reaches far beyond the lab. For families touched by Down Syndrome and other genetic conditions, it offers a newfound hope โ that each milestone in science can one day open new doors at the heart of everyday life.
๐พ๐๐๐๐๐ | Therese Importante
๐ณ๐๐๐๐๐ | Radcliff Sy
