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.

Date of Patent:
May. 23, 2023

Filed:

Jul. 05, 2017
Applicants:

The Usa, As Represented BY the Secretary, Dept. of Health and Human Services, Bethesda, MD (US);

Murdoch University, Perth, AU;

The General Hospital Corporation, Boston, MA (US);

President and Fellows of Harvard College, Cambridge, MA (US);

Ucl Business Plc, London, GB;

Inventors:

Carsten G. Bonnemann, Washington, DC (US);

Veronique Bolduc, Rockville, MD (US);

Francesco Muntoni, London, GB;

Steve Wilton, Applecross, AU;

Daniel Macarthur, Cambridge, MA (US);

Monkol Lek, Braintree, MA (US);

Beryl Cummings, Brookline, MA (US);

Attorneys:
Primary Examiner:
Int. Cl.
CPC ...
C12N 15/113 (2010.01); C12N 15/86 (2006.01); C12Q 1/6883 (2018.01);
U.S. Cl.
CPC ...
C12N 15/113 (2013.01); C12N 15/86 (2013.01); C12Q 1/6883 (2013.01); C12N 2310/11 (2013.01); C12N 2310/3233 (2013.01); C12N 2320/33 (2013.01); C12N 2800/60 (2013.01); C12Q 2600/156 (2013.01);
Abstract

A single nucleotide polymorphism (SNP) that results in development of a Type VI collagen, alpha 1 chain-related disorder, and the use of the SNP to identify individuals at risk for developing COL6-related disorders (COL6-RD). Also provided are antisense oligomers for treating individuals at risk for developing COL6-RD, as well as methods for screening compounds for their potential as therapeutic agents.


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