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Down Syndrome Research Should Look at the Whole Cell Not Just the Extra Chromosome, Scientists Say

[Source:  Science Daily]

Research on understanding the effect of extra chromosomes for conditions like Down syndrome typically involves examining what genes play a role in the symptoms of these conditions. However, researchers propose a new way of looking at these conditions, suggesting that when an extra chromosome is present, the impact on the cell depends less on which chromosome is duplicated and more on the presence of extra DNA.  This work appears in a review publishing December 1in the American Journal of Human Genetics.

“Understanding the complexity and general nature of disease phenotypes allows us to see a bigger picture and not get stuck focusing on a single gene, due to its presence on the extra chromosome,” says lead author Maria Krivega, developmental biologist at Heidelberg University.

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