Diagnostic and therapeutic treatments related to...

C - Chemistry – Metallurgy – 07 – H

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C07H 21/02 (2006.01) A01K 67/00 (2006.01) A01K 67/033 (2006.01) A01N 63/00 (2006.01) C07H 21/04 (2006.01) C12N 5/00 (2006.01) C12N 5/02 (2006.01) A01N 65/00 (2006.01)

Patent

CA 2525560

The invention is based in part on the discovery that chromosomal disorders such as Down Syndrome can be diagnosed by assessing maternal mitochondrial status. Thus the invention relates to diagnostic and therapeutic methods and related products for chromosomal disorders such as Downs Syndrome, for example, for identifying a risk of fetal Downs syndrome and methods of mitigating that risk. The methods also re useful for other therapies where it is desirable to manipulate mitochondria such as tissue generation.

L'invention est fondée en partie sur la découverte selon laquelle des troubles chromosomaux tels que le syndrome Down peuvent être diagnostiqués par l'évaluation du statut mitochondrial de la mère. De cette manière, l'invention concerne des procédés diagnostiques et thérapeutiques et des procédés correspondants destinés à des troubles chromosomiques tels que le syndrome de Down, par exemple, pour identifier un risque de syndrome de Down chez le foetus et des procédés pour réduire ce risque. Les procédés sont également utiles pour d'autres thérapies dans lesquelles il est désirable de manipuler les mitochondries, par exemple dans la génération de tissus.

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