Japan Learns to Edit Genes to Prevent Down Syndrome

Scientists at Japan's Mie University have developed a new gene editing method that, they hope, will help eliminate the extra chromosome responsible for Down syndrome. This information was reported by TASS, citing the online publication My Modern Met.

"A team of Japanese researchers from Mie University has created a gene editing approach targeting the additional chromosome responsible for Down syndrome. The results, recently published in the journal PNAS Nexus, demonstrate how the CRISPR/Cas9 DNA-modifying technology can remove extra chromosomes from affected cells," the publication writes.

Down syndrome is a genetic disorder caused by an extra copy of the 21st chromosome, also known as trisomy 21. It leads to developmental deviations, physical health issues, and cognitive impairments, including a range of defects—from hearing loss and congenital heart defects to learning and speech difficulties.

The scientific team discovered that after removing the excess copy using CRISPR in laboratory-grown cells, gene expression normalized. Follow-up tests showed that genes related to neural development became more active, while those associated with metabolism slowed down after editing. The corrected cells also grew faster and divided twice as quickly compared to untreated cells.

However, CRISPR technology can interact with healthy cells as well, meaning that current early developments are still far from clinical application. The team is now working on refining their methodology to ensure that gene editing affects only cells with trisomy.