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The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Patent No.:

US 10865445 B1

PDFFull Text
Date of Patent:
Dec. 15, 2020

Filed:

Aug. 18, 2011

Methods for alleviating facioscapulohumeral dystrophy (fshd) by n sirna molecule inhibiting the expression of dux4-fl

Applicants:

Silvere M. Van Der Maarel, Leiden, NL;

Stephen J. Tapscott, Seattle, WA (US);

Rabi Tawil, Rochester, NY (US);

Richard J. L. F. Lemmers, Leiden, NL;

Linda Geng, Seattle, WA (US);

Lauren Snider, Seattle, WA (US);

Inventors:

Silvere M. van der Maarel, Leiden, NL;

Stephen J. Tapscott, Seattle, WA (US);

Rabi Tawil, Rochester, NY (US);

Richard J. L. F. Lemmers, Leiden, NL;

Linda Geng, Seattle, WA (US);

Lauren Snider, Seattle, WA (US);

Assignees:

Fred Hutchinson Cancer Research Center, Seattle, WA (US);

University of Rochester, Rochester, NY (US);

Leiden University Medical Center, Leiden, NL;

Attorney:

Norton Rose Fulbright US LLP

Primary Examiner:

Chang-Yu Wang

Int. Cl.
CPC ...
C12N 15/11 (2006.01); C12N 15/113 (2010.01); C12N 15/00 (2006.01); C12N 15/09 (2006.01); C12N 15/10 (2006.01); A61K 48/00 (2006.01); C07H 19/00 (2006.01); C07H 21/04 (2006.01); C12Q 1/6883 (2018.01); G01N 33/68 (2006.01); C12Q 1/6809 (2018.01); C12Q 1/6897 (2018.01); A61P 21/00 (2006.01); C12N 15/86 (2006.01); A61K 31/7105 (2006.01); A61K 9/00 (2006.01); A61K 31/713 (2006.01); A61N 1/32 (2006.01); A61N 1/36 (2006.01); C12N 7/00 (2006.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 1/6809 (2013.01); C12Q 1/6897 (2013.01); G01N 33/6896 (2013.01); A61K 9/0019 (2013.01); A61K 31/713 (2013.01); A61K 31/7105 (2013.01); A61K 48/00 (2013.01); A61N 1/326 (2013.01); A61N 1/36003 (2013.01); A61P 21/00 (2018.01); C07K 2319/71 (2013.01); C07K 2319/81 (2013.01); C12N 7/00 (2013.01); C12N 15/102 (2013.01); C12N 15/11 (2013.01); C12N 15/111 (2013.01); C12N 15/113 (2013.01); C12N 15/86 (2013.01); C12N 2310/11 (2013.01); C12N 2310/14 (2013.01); C12N 2310/141 (2013.01); C12N 2310/321 (2013.01); C12N 2310/322 (2013.01); C12N 2320/11 (2013.01); C12N 2320/30 (2013.01); C12N 2320/33 (2013.01); C12N 2330/51 (2013.01); C12N 2501/60 (2013.01); C12N 2710/10043 (2013.01); C12N 2750/00032 (2013.01); C12N 2750/14132 (2013.01); C12N 2750/14143 (2013.01); C12N 2800/80 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/172 (2013.01); C12Q 2600/178 (2013.01); G01N 33/6887 (2013.01); G01N 2800/2878 (2013.01);
Abstract

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).

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