Scientists make breakthrough in treatment of Down syndrome 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 parents' increased knowledge, many people with this condition can live independently and have jobs - Illustration.

This restored the normal function of the 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 research 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 are hailing it as a potential breakthrough in preventing complications that reduce life expectancy, which is currently around 60 years.

However, as the authors note, this method is not yet ready for use on living organisms. Current technology may inadvertently damage other chromosomes, or some cells may retain extra chromosomes, thus requiring further improvement.

Although clinical applications are still a long way off, this research is an important step in finding treatments for genetic diseases.

Scientists hope that further developments will allow for the adaptation of this method for safe use in medicine. They anticipate 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 in 700 births worldwide . Extensive research has been conducted to elucidate its 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 the detection of aneuploidy.

However, there is still relatively little research to address the underlying causes of this condition, and strategies are needed to remove the extra chromosome 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