What is it about?
Down syndrome (DS) is the most common human developmental genetic disorder and is due to a triplication of chromosome 21. We have developed a modified CRISPR approach to selectively target and silence one of three copies in DS cells in a highly efficient manner. We further show normalized gene expression in the targeted cells.
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Why is it important?
Our findings overcome several significant technological hurdles for treatment of Down Syndrome. While silencing of one copy of chromosome 21 has previously been shown through insertion of XIST, the efficiency of introducing this construct was very low. We now show an approach which leads to high efficiency insertion (some 30%) and the ability to target only one of three copies ( to prevent silencing of more than one copy in a cell). These advances make the approach clinically feasible.
Perspectives
This publication provides additional insight into upcoming treatments for Down Syndrome.
volney sheen
Beth Israel
Read the Original
This page is a summary of: A modified CRISPR/Cas9 approach in silencing the triplication in Down syndrome: A treatment path XISTs, Proceedings of the National Academy of Sciences, April 2026, Proceedings of the National Academy of Sciences,
DOI: 10.1073/pnas.2517953123.
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