KEY POINTS
- Scientists use CRISPR gene editing to remove extra chromosome causing Down syndrome.
- The breakthrough shows promise but still needs more research to ensure safety.
- The potential “eradication” of Down syndrome has sparked ethical concerns.
- More work is needed to refine the technology before applying it to humans.
ISLAMABAD: Japanese scientists have made an exciting breakthrough that could potentially eliminate Down syndrome, a condition that affects about 1 in 700 babies born in the United States.
Using a cutting-edge gene-editing technology called CRISPR, researchers from Mie University have shown that it is possible to remove the extra chromosome that causes Down syndrome, offering hope for a future without the condition.
What Is Down Syndrome?
Down syndrome is caused by the presence of an extra copy of chromosome 21, known as trisomy 21. This extra chromosome can cause developmental delays, intellectual disabilities, and a variety of health problems, including heart defects, vision issues, and a higher risk of Alzheimer’s disease. People with Down syndrome may also have difficulty with learning and communication.
The CRISPR Breakthrough
The research team, led by Ryotaro Hashizume, used CRISPR-Cas9, a powerful gene-editing tool, to target and remove the extra chromosome 21 from cells grown in the lab.
CRISPR works by using an enzyme to cut DNA at a specific location. The team created CRISPR guides that could specifically target the trisomy 21 chromosome, and when they tested it on the cells, they found that the extra chromosome was successfully removed.
This led to more typical gene behaviour in the cells, especially in genes that control brain development and metabolism.
In addition to lab-grown cells, the researchers also tested this on mature skin cells taken from individuals with Down syndrome, and the results were similar. The edited cells grew faster and behaved more normally compared to untreated cells.
Potential for Treatment, but Risks Remain
While the findings are promising, the process is still in its early stages. One of the challenges is ensuring that CRISPR doesn’t affect the healthy chromosomes, so the scientists are refining the technology to make sure it only targets the extra chromosome 21.
Also, more research is needed to understand the long-term effects of these changes and how they could be used in real-world treatments.
A Controversial Topic
Despite the excitement surrounding this scientific breakthrough, the potential to “erase” Down syndrome has sparked ethical debates. Some countries, like Iceland, have already seen a significant reduction in Down syndrome cases, mainly due to prenatal screenings and abortions.
However, this raises concerns about the views of people with Down syndrome and their families, who feel that the value of their lives and experiences is being overlooked.
“Many individuals with Down syndrome and their families find the idea of eradicating the condition disturbing,” said Ástríður Stefánsdóttir, a professor of ethics in Iceland. “It’s important to listen to what they have to say about this issue.”
Looking Ahead
While the use of CRISPR to potentially eliminate Down syndrome is still a long way from being applied to humans, the research could pave the way for new treatments that address genetic conditions at their source.
The team hopes their work will lead to therapies that improve the quality of life for people with Down syndrome, but they will continue to carefully study the risks and benefits.
