How can we treat chromosomal abnormalities?
Image credit: Wessex Reg. Genetics Centre. Attribution 4.0 International (CC BY 4.0)
- Deletion - a part of the chromosome is deleted.
- Duplication - a part of the chromosome has been duplicated.
- Inversion - the genetic material is the wrong way around because the chromosome detached, inverted, then re-attached.
- Translocation - a part of the chromosome is transferred to another chromosome.
- Aneuploidy – is when there is an extra or missing chromosome.
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Using XIST controlled dosage compensation to rectify trisomy
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Using CRISPR to treat trisomies
- I wonder how the extra chromosome was specifically targeted without impacting all three of the chromosomes in the Down syndrome patient's cells?
- Would partial chromosomal editing ameliorate the disease severity?
- Would randomly deleting a chromosome mid-life have lethal consequences?
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Developing an Inhibitory Cocktail to address Down-Syndrome
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Gough G, O'Brien NL, Alic I, Goh PA, Yeap YJ, Groet J, Nizetic D, Murray A. Modeling Down syndrome in cells: From stem cells to organoids. Prog Brain Res. 2020;251:55-90. doi: 10.1016/bs.pbr.2019.10.003. Epub 2019 Nov 20. PMID: 32057312.
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