Could Down syndrome be eliminated? Scientists say cutting-edge gene editing tool could cut out extra chromosome

Cutting-edge gene editing technology could eradicate Down syndrome, according to Japanese scientists.Down syndrome, which causes a range of developmental differences and affects 1 in 700 newborns in the United States, is caused by the presence of an extra copy of chromosome 21.The extra chromosome, also known as trisomy 21, causes cellular overactivity, compromises a range of processes within the body, and can manifest in distinctive physical traits, learning difficulties, and health concerns.

Now new research out of Mie University in Japan suggests that by using the DNA-modifying tech CRISPR, it is possible to remove the surplus chromosome in affected cells and bring cellular behavior closer to typical function.CRISPR-Cas9 is a gene-editing system that utilizes an enzyme to identify specific DNA sequences.Once the enzyme locates a matching site, it snips through the DNA strands.Ryotaro Hashizume and his colleagues designed CRISPR guides to target only the trisomy 21 chromosome, a process called allele-specific editing, which directs the cutting enzyme to the desired spot.When they used it on lab-grown cells, removing the extra copy of the gene normalized the way the genes expressed themselves in the body — suggesting that the genetic burden had been removed.They also found that after the extra chromosome was removed, genes tied to nervous system development were more active and those related to metabolism were less active.

This backs up previous research that found extra copies of chromosome 21 disrupt brain development during early fetal growth.Researchers also tested their CRISPR guides on skin fibroblasts, which are mature, non-stem cells taken from people with Down syndrome.In these fully developed cells, the editing method successfully removed the extra chromosome in a number of cases.After removal, these corrected cells grew faster and had a shorter doubling time than untreated cells, suggesting that removing the extra chromosome may help with the biol...