Scientists Achieve Breakthrough in Down Syndrome Treatment in Japan

Japanese scientists at Mie University, led by Dr. Hashizume Ryotaro, have achieved a breakthrough by using the gene editing tool CRISPR-Cas9 to remove the extra chromosome 21 that causes Down syndrome.

A girl with Down syndrome became an employee of an Australian airline. Today, thanks to their parents' knowledge, many people with this condition can live independently and have jobs - Illustrative photo

Thereby restoring normal function of cells, with a success rate of up to 37.5%.

Furthermore, scientists confirmed that in cells with normal chromosomes, characteristics such as gene expression patterns, cell proliferation rates, and antioxidant capacity were also restored to normal levels. The study was published in the scientific journal PNAS in early 2025.

This is the first time the root cause of Down syndrome has been addressed at the cellular level, offering unprecedented hope. Experts hail it as a potential breakthrough in preventing complications that shorten life expectancy, with an average life expectancy of around 60 years.

However, as the authors note, the method is not yet ready for use in living organisms. Current technology can accidentally damage other chromosomes, or some cells retain extra chromosomes, so further improvements are needed.

Although clinical application is still a long way off, the research is an important step forward in finding treatments for genetic diseases.

Scientists hope that further developments will allow the method to be adapted for safe use in medicine. They hope that this method will contribute to the prevention and improvement of various complications associated with Down syndrome in the future.

Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21 in humans, resulting in triploid cells that cause the disease.

The incidence of Down syndrome is 1/700 births worldwide . Extensive research has been conducted to elucidate the clinical features, genetic causes and cellular characteristics.

These studies are supported by the development of advanced animal models and advances in prenatal diagnostic techniques, such as preimplantation genetic testing for aneuploidy.

However, there is still little research to address the underlying cause of this condition, and strategies are needed to remove extra chromosomes from triploid cells.

NGUYEN DINH SONG THANH

Source: https://tuoitre.vn/cac-nha-khoa-hoc-dat-duoc-buoc-dot-pha-trong-dieu-tri-hoi-chung-down-tai-nhat-ban-20250723084911203.htm