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CRISPR takes a bold leap toward silencing Down syndrome's extra chromosome

38 pointsby amichailtoday at 4:19 PM38 commentsview on HN

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bonsai_spooltoday at 6:22 PM

This is very clever - the X chromosome has a mechanism to shut itself down (which makes sense; otherwise cells in women would have twice as many gene products from the X chromosome as cells from men).

The linked research report[1] uses that mechanism, Xist, to shutdown chromosome 21, the extra chromosome whose presence causes Down syndrome. In its present form, it would need to be optimized for each potential patient and is unlikely to be used as a treatment paradigm, but the biological approach is clever.

[1] https://www.pnas.org/doi/10.1073/pnas.2517953123

mark-frosttoday at 6:33 PM

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JimmyBucketstoday at 4:44 PM

It would be interesting to understand what people with down syndrome feel about this. Would they all want what makes them unique turned off?

Most people with down syndrome live happy, fulfilling lives. A google search will show studies that show 99% are happy with their lives. E.g.

https://www.downsyndrome.org.au/about-down-syndrome/statisti...

99% of people with Down syndrome were happy with their lives; 97% liked who they are; 96% liked how they looked; 99% expressed love for their families; 97% liked their brothers and sisters; 86% felt they could make friends easily.

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