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.:
Date of Patent:
Jun. 30, 2015
Filed:
Mar. 14, 2013
Genesis Group Inc., St. John's, CA;
Terry-Lynn Young, St. John's, CA;
Kathy Hodgkinson, St. John's, CA;
Sean Connors, St. John's, CA;
Patrick Parfrey, St. John's, CA;
Annika Haywood, St. John's, CA;
Nancy Merner, St. John's, CA;
Vanessa French, Torbay, CA;
Memorial University of Newfoundland, St. John's, Newfoundland & Labrador, CA;
Abstract
Methods and compositions relating to diagnosing and treating cardiomyopathy and particularly relating to methods and compositions for diagnosing and treating arrhythmogenic right ventricular dysplasia/cardiomyophathy (ARVD/C) are described. Provided are methods for screening for, diagnosing or detecting a risk of developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) comprising detecting the presence of a transmembrane protein 43 (TMEM43) disease associated variant in a sample of a subject, wherein the presence of a TMEM43 disease variant is indicative that the subject has ARVD/C or an increased risk of developing ARVD/C compared to an individual having wild type TMEM43.