公开(公告)号：US20130347136A1

公开(公告)日：2013-12-26

申请号：US13861227

申请日：2013-04-11

Applicant: University of Massachusetts

Inventor： Charles P. Emerson, JR. ,  Jennifer Chen ,  Oliver D. King

IPC: C12Q1/68 ,  A01K67/027 ,  C12N5/077

CPC classification number: C12N15/113 ,  A01K67/0271 ,  C12N5/0658 ,  C12N15/111 ,  C12N15/1137 ,  C12N15/1138 ,  C12N2310/11 ,  C12N2310/315 ,  C12N2310/322 ,  C12N2310/3233 ,  C12N2310/341 ,  C12N2310/346 ,  C12N2320/12 ,  C12N2320/30 ,  C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/158 ,  C12N2310/3525

Abstract: Compositions and methods for identifying new treatments for Facioscapulohumeral muscular dystrophy (FSHD), and uses thereof.

Abstract translation: 用于鉴定面积性营养不良肌营养不良症（FSHD）的新疗法的组合物和方法及其用途。

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.

公开(公告)号：US20240141359A1

公开(公告)日：2024-05-02

申请号：US18278338

申请日：2022-02-23

Applicant: UNIVERSITY OF MASSACHUSETTS

Inventor： Charles P. Emerson, JR. ,  Scot A. Wolfe

IPC: C12N15/113 ,  C12N9/22 ,  C12N15/86

CPC classification number: C12N15/1138 ,  C12N9/22 ,  C12N15/86 ,  C12N2310/20 ,  C12N2750/14143

Abstract: The present invention is related to the field of genetic engineering. In particular, the repair, reversion and/or conversion of genetic mutations that are linked to a muscular dystrophy disease. Specifically contemplated are gene editor nuclease proteins or base editor proteins that are targeted to the muscular dystrophy genetic mutations or pathogenic variants. Such gene editor nuclease proteins include, but are not limited to Cas12a nuclease proteins and adenine base editor proteins. Repair, reversion and/or disruption of the genetic mutation or pathogenic variant reduces at least one symptom of a muscular dystrophy disease.