A new technique to shut down chromosome 21
provides the clearest window yet into the cellular pathologies that underlie
Down syndrome.1 The findings will reshape how the condition is
modeled and, in the longer term, could point to new disease targets or even a
strategy to remove the extra chromosome.
Breaking down trisomy 21
Next steps could include using the
isogenic model to pinpoint specific genes or pathways that contribute to the
underlying pathologies associated with Down syndrome, such as early AD or
The long road to chromosomal therapy
Although the general media jumped on the
idea that chromosomal therapy could be used to shut down the extra chromosome
in blood cells to prevent leukemia, the actual near-term applications of the XIST
approach include using the model to discover genes and pathways relevant to the
pathologies associated with Down syndrome that could be candidates for drug
Baas, T. SciBX 6(31); doi:10.1038/scibx.2013.815
Published online Aug. 15, 2013
1. Jiang, J. et al.
Nature; published online July 17, 2013;
Contact: Jeanne B. Lawrence, University of Massachusetts Medical School,
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Morgan, W.F. Hum. Genet. 53, 311-313 (1980)
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AND INSTITUTIONS MENTIONED
California Institute of Technology, Pasadena, Calif.
Harvard Medical School, Boston, Mass.
Massachusetts Institute of Technology, Cambridge, Mass.
Sangamo BioSciences Inc. (NASDAQ:SGMO), Richmond, Calif.
University of Massachusetts Medical School, Worcester, Mass.
Saint Joseph University, Beirut, Lebanon
University of Washington School of Medicine, Seattle, Wash.