公开(公告)号：US20240207370A1

公开(公告)日：2024-06-27

申请号：US18288211

申请日：2022-04-26

Applicant: University of Massachusetts ,  The Clinic for Special Children, Inc

Inventor： Guangping Gao ,  Dan Wang ,  Jiaming Wang ,  Kevin A. Strauss

IPC: A61K38/44 ,  A61K48/00 ,  A61P3/00 ,  C12N15/86

CPC classification number: A61K38/44 ,  A61K48/0033 ,  A61K48/0066 ,  A61P3/00 ,  C12N15/86 ,  C12Y102/04004 ,  C12N2750/14143

Abstract: In some aspects the disclosure provides compositions and methods for promoting expression of functional BCKDHA protein, which is the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex, and/or BCKDHB, which is the E1-beta subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex in a subject. In some embodiments, the disclosure provides methods of treating a subject having Maple Syrup Urine Disease (MSUD).

公开(公告)号：US20230121437A1

公开(公告)日：2023-04-20

申请号：US17768305

申请日：2020-10-14

Applicant: University of Massachusetts

Inventor： Guangping Gao ,  Dan Wang ,  Jiaming Wang

IPC: C12N15/11 ,  C12N9/22 ,  C12N15/86 ,  C12N9/78 ,  A61K48/00 ,  A61K38/46 ,  A61K31/7105

Abstract: Aspects of the disclosure relate to compositions and methods for exon replacement in a cell or a subject. In some embodiments, the disclosure relates to isolated nucleic acids (and vectors, such as rAAV vectors) encoding one or more guideRNAs (gRNAs) that target an intron-exon boundary; an intronic sequence having a splice signal; and a donor sequence encoding a gene product of a gene of interest, or portion thereof. In some embodiments, compositions described herein are useful for replacing mutant exons associated with certain diseases, for example Duchen's muscular dystrophy (DMD), cystic fibrosis (CF), spinal muscular atrophy (SMA), Rett syndrome, and mucopolysaccharidosis (MPS).

公开(公告)号：US20230346978A1

公开(公告)日：2023-11-02

申请号：US17918714

申请日：2021-04-13

Applicant: University of Massachusetts

Inventor： Dan Wang ,  Guangping Gao ,  Jiaming Wang

IPC: A61K48/00 ,  C12N15/11 ,  C12N9/22 ,  C12N9/78 ,  C12N15/86 ,  A61P43/00

CPC classification number: A61K48/0066 ,  C12N15/11 ,  C12N9/22 ,  C12N9/78 ,  C12Y305/04004 ,  C12N15/86 ,  A61P43/00 ,  C12N2310/20 ,  C12N2750/14143

Abstract: Aspects of the disclosure relate to compositions (e.g., isolated nucleic acids, rAAV vectors, rAAVs, etc.) and methods for gene editing. The disclosure is based, in part, on isolated nucleic acids encoding combinations of gene editing proteins (e.g., Cas proteins) and base editors (e.g., Adenosine Deaminase Acting on RNA deaminase domains) with certain regulatory sequences that are amenable to packaging in recombinant adeno-associated viruses (rAAVs). In some embodiments, compositions described by the disclosure are useful for treating certain diseases in a subject in need thereof.

公开(公告)号：US20220162570A1

公开(公告)日：2022-05-26

申请号：US17602353

申请日：2020-04-10

Applicant: University of Massachusetts ,  Clinic for Special Children

Inventor： Guangping Gao ,  Dan Wang ,  Jiaming Wang ,  kevin A Strauss

IPC: C12N9/02 ,  C12N15/86 ,  A61P3/00 ,  A61K48/00

Abstract: In some aspects the disclosure provides compositions and methods for promoting expression of functional BCKDHA protein, which is the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex, in a subject. In some aspects the disclosure provides compositions and methods for promoting expression of functional BCKDHB protein, which is the E1-beta subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex, in a subject. In some aspects the disclosure provides compositions and methods for promoting expression of functional BCKDHA and BCKDHB proteins, in a subject. In some embodiments, the disclosure provides methods of treating a subject having Maple Syrup Urine Disease (MSUD).