Loading patent…
AssigneesFred Hutchinson Cancer Research Center, University of Rochester, Leiden University Medical Center
InventorsSilvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J. L. F. Lemmers, Linda Geng, Lauren Snider
Estimating the term…
In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene, wherein a determination of the absence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject does not have a genetic predisposition to develop, and is not suffering from FSHD, and/or wherein a determination of the presence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD).
A method of alleviating Facioscapulohumeral Dystrophy (FSHD) in a human subject suffering from FSHD, the method comprising systemically administering to the human subject a siRNA molecule of DUX4-fl, wherein the siRNA molecule is complementary to a portion of the nucleic acid sequence of SEQ ID NO:66 or SEQ ID NO:67;
Dependencies are inferred from the claim text.