SCIENTISTS IN JAPAN MAY HAVE DISCOVERED A METHOD TO REMOVE A CHROMOSOME LINKED TO DOWN SYNDROME

Every year, about 5,700 babies are born with Down syndrome in the United States, making it the most common chromosomal abnormality. Trisomy 21, a genetic disorder caused by an extra copy of chromosome 21, causes developmental, physical, and cognitive impairments, ranging from learning and speech issues to congenital heart defects and hearing loss. However, Mie University researchers in Japan might have found a gene editing method that can completely remove that extra chromosome.

The team's results, which were just published in PNAS Nexus, describe how the excess chromosome in afflicted cells can be cut away using the DNA-modifying technique CRISPR/Cas9. CRISPR uses enzymes to recognise particular DNA sequences and can cut out entire DNA strands when it finds a match. In order to concentrate just on trisomy 21, a procedure known as allele-specific editing in which the "cutting" enzyme is precisely targeted toward its intended target, the researchers meticulously crafted CRISPR guides for this investigation. Surprisingly, the group found that their lab-grown cells' gene expression returned to normal when they used CRISPR to eliminate the extra copy.

After the editing, follow-up testing showed that genes related to metabolism slowed down and those related to nervous system development became more active. In comparison to untreated cells, corrected cells grew more quickly and had a shorter doubling time.