Researchers eye potential Down syndrome fix via advanced gene editing

Researchers have developed a modified version of the CRISPR gene-editing tool that in early laboratory experiments suggests it may have the potential to “silence” the extra chromosome that causes Down syndrome.



People with Down syndrome are born with an extra copy of chromosome 21, giving them 47 chromosomes instead of the usual 46.



As it is not clear which of the hundreds of genes on the extra chromosome are to blame for these effects, silencing of the entire chromosome would be the optimal treatment, Sheen said.



In healthy biological females, a gene called XIST naturally silences the extra X chromosome that is present in all female cells except eggs.



Scientists have previously surmised that inserting XIST into an extra chromosome 21 will silence it in a similar manner, but technical limitations meant their attempts at inserting the gene often failed.



Although the technique is still at the test-tube stage, the researchers hope it will lead to future treatments.