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:
Aug. 19, 2025
Filed:
Oct. 25, 2019
The Board of Trustees of the Leland Stanford Junior University, Stanford, CA (US);
European Molecular Biology Laboratory, Heidelberg, DE;
Francesca Briganti, Palo Alto, CA (US);
Lars M. Steinmetz, Palo Alto, CA (US);
Han Sun, Mountain View, CA (US);
Wu Wei, Palo Alto, CA (US);
European Molecular Biology Laboratory, Heidelberg, DE;
The Board of Trustees of the Leland Stanford Junior University, Stanford, CA (US);
Abstract
Methods of treatment, genetic screening, and disease models for heart conditions associated with RBM20 deficiency are disclosed. In particular, methods of treating heart conditions associated with RBM20 deficiency, including RBM20-dependent dilated cardiomyopathy and heart failure with compounds that upregulate expression of RBM20, such as all-trans retinoic acid are provided. Also disclosed are methods of genetic screening to detect the presence of a P633L mutation in RBM20 in order to identify individuals having a genetic predisposition to developing RBM20-dependent DCM. Induced pluripotent stem cell-derived cardiomyocytes (IPSC-CMs) produced by differentiation of IPSCs comprising at least one RBM20 allele encoding a P633L mutation and methods of using them in screening for therapeutics for treating RBM20-dependent DCM are also disclosed.