公开(公告)号：US20200299727A1

公开(公告)日：2020-09-24

申请号：US16827454

申请日：2020-03-23

Applicant: THE REGENTS OF THE UNIVERSITY OF COLORADO, A BODY CORPORATE

Inventor： Kunhua Song ,  Congwu Chi ,  Yingqiong Cao

IPC: C12N15/86 ,  C12N9/22 ,  C12N15/90

Abstract: The disclosed technology includes methods of treating Danon disease, for example correcting genetic mutations in the LAMP-2 gene and ameliorating at least one Danon disease phenotype, for example defective LAMP-2B-mediated autophagy. In some implementations, the disclosed methods include editing a mutated form of the LAMP-2 gene in a patient in need thereof. In some implementations, editing the mutated form of the LAMP-2 gene may include use of a CRISPR editing technique targeted to the mutated form of the LAMP-2 gene. As a result, mutated LAMP-2 proteins in mammalian subjects may be restored in at least some of the affected cells, for example cardiomyocytes.