19/07/2025
๐๐๐๐๐๐๐ & ๐๐๐๐๐๐ | Japanese Scientists Use CRISPR to Remove Root Cause of Down Syndrome
In a global first, researchers from Mie University in Tsu, Mie Prefecture, Japan, have successfully cut the surplus copy of chromosome 21 responsible for Down syndrome, using the powerful gene-editing tool CRISPR-Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats-associated protein 9).
Down syndrome is the leading chromosomal condition worldwide, affecting 1 out of every 700 live births, according to the National Institute of Health.
Most cases of Down Syndrome result from Trisomy 21, a genetic disorder where the body has three copies of chromosome 21 instead of the usual two copies.
The researchers used a method called allele-specific editing, which trains CRISPR-Cas9 to recognize and cut DNA sequences unique to the extra chromosome. This makes the extra copy unstable, and be naturally discarded during cell divisionโleaving the normal pair intact.
The study, published in PNAS Nexus, reports that up to 37.5% of patient-derived cells were correctedโwith improvements in gene expression, protein production, and survival.
Researchers and reports caution that off-target effects and mosaicism remain as concerns. As noted by Earth.com, โsome CRISPR cuts may unintentionally affect healthy chromosomes."
A large number of cells also remained uncorrectedโan issue the team hopes to solve by improving the precision of their guide design.
While the breakthrough is promising, it is far from clinical use. The method has only been tested in lab-grown cells and must pass safety trials in animal models before human testing.
Ethical concerns around germline or embryonic editing also call for strict regulation and global dialogue.
This discovery may not be a cure yet, but it brings science one step closer to rewriting the future of genetic disordersโone cut at a time.
โ๏ธ๐ป Russel Carlos
