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US 11,597,976 B2Granted
Identification of telomere length as a diagnostic biomarker for heritable cardiomyopathies
AssigneeThe Board of Trustees of the Leland Stanford Junior University
InventorsHelen M. Blau, Chia Yu Alex Chang
Life of this patent
Estimating the term…
Abstract
Shortened telomeres are diagnostic of genetic predisposition to cardiomyopathies, e.g. those related to defects in structural proteins expressed in cardiomyocytes.
Claims1
A method of screening a candidate agent for activity in treating cardiomyopathy, the method comprising:
- determining the effectiveness of a drug on reducing the shortening of telomeres in human cardiomyocytes during in vitro differentiation,
- wherein the determining comprises:
- (i) measuring the length of the telomeres in cardiomyocytes that have not been contacted with the drug using quantitative in situ hybridization (QFISH), qPCR, telo-FISH, or Southern Blot,
- (ii) measuring the length of the telomeres in cardiomyocytes that have been contacted with the drug using quantitative in situ hybridization (QFISH), qPCR, telo-FISH, or Southern Blot, and
- (iii) comparing the length of the telomeres in cardiomyocytes that have been contacted with the drug with the length of the telomeres in cardiomyocytes that have not been contacted with drug to determine if the drug reduces shortening of telomeres;
- wherein the cardiomyocytes are differentiated in vitro from induced pluripotent stem cells derived from an individual with a genetic mutation in a sarcomeric protein selected from the group consisting of dystrophin (DMD), troponin T2 (TNNT2), lamin A (LMNA), and titin (TTN);
- wherein an effective drug reduces shortening of telomeres.
4 more elements
Dependencies are inferred from the claim text.