Breakthrough in Down syndrome treatment: scientists succeed in removing extra 21st chromosome

26 July 2025 , 12:18

848     0

Breakthrough in Down syndrome treatment: scientists succeed in removing extra 21st chromosome

A team of Japanese scientists from Mie University has developed a gene-editing method that targets the extra chromosome responsible for Down syndrome.

The breakthrough, reported by My Modern Met, marks a major milestone in medical science. The researchers successfully removed the extra copy of chromosome 21 — the cause of Down syndrome — entirely from human cells in laboratory conditions.

Following the removal of the trisomy, the genes in the modified cells began to function like those in healthy cells: gene activity increased, cellular stress levels dropped, and essential biological processes were restored. The edited cells also grew faster and had shorter doubling times compared to untreated ones.

This represents the first and highly significant step toward creating a method that could one day treat Down syndrome at the DNA level.

Further testing showed that genes linked to nervous system development became more active, while those related to metabolism slowed down after editing.

In addition to lab-grown cells, the scientists also applied their CRISPR-based technique to skin fibroblasts obtained from people with Down syndrome. Once again, the method proved effective — the extra chromosome was successfully removed in several cases.

However, CRISPR can also interact with healthy cells, highlighting that these early discoveries are still far from being ready for clinical application. In response, the team is now working to refine their methodology to ensure that gene editing targets only trisomic cells.

Sophia Martinez

World Affairs Correspondent