公开(公告)号：US20210230568A1

公开(公告)日：2021-07-29

申请号：US17051632

申请日：2019-05-03

Applicant: UNIVERSITY OF MASSACHUSETTS

Inventor： Scot A. Wolfe ,  Charles P. Emerson, JR. ,  Sukanya Iyer ,  Sneha Suresh ,  Christian Mueller ,  Jennifer Chen ,  Dongsheng Guo ,  Oliver King

IPC: C12N9/22 ,  A61K35/76 ,  A61K38/00

Abstract: The present invention is directed to the filed of gene therapy. In particular, compositions and methods are disclosed that repair gene microduplication mutations by reversion to a wild type sequence. For example, the creation of a double stranded break by a programmable nuclease protein within a microduplication induces the microhomology mediated end joining DNA repair pathway that in the process of DNA repair removes the microduplication mutation and restores the wild type sequence.