Many genetic disorders are caused by faulty versions of a single gene.
But Down’s syndrome happens when people are born with three copies of the 21st chromosome, rather than the usual two. This condition, called trisomy, leads to hundreds of abnormally active genes, not just one. You cannot address it by correcting a single gene. You’d need a way of shutting down an entire chromosome.
Researchers have demonstrated the ability to do just that, using the gene XIST to shut down one copy of chromosome 21 in cells in the lab.
Read the full article here: Shutting Down the Extra Chromosome in Down’s Syndrome Cells
- “Translating dosage compensation to trisomy 21,” Nature
Read the journal article that describes the finding.
- “Researchers turn off Down’s syndrome genes,” Nature
Read the plain language coverage of the study in this article from Nature’s News and Commentary section. This write-up has more information about the methods than in the National Geographic story.
- Down’s Syndrome Association
Learn more about Down’s syndrome