公开(公告)号：WO2019116349A1

公开(公告)日：2019-06-20

申请号：PCT/IB2018/060138

申请日：2018-12-14

Applicant: CASEBIA THERAPEUTICS LLP

Inventor： TAKEUCHI, Ryo ,  NOMA, Akiko ,  HE, Shuying ,  SCARIA, Abraham

IPC: C12N15/90 ,  C12N9/22 ,  C12N15/113

CPC classification number: C12N15/907 ,  A61K48/005 ,  C12N9/22 ,  C12N9/88 ,  C12N15/1137 ,  C12N15/86 ,  C12N2310/20 ,  C12N2750/14143 ,  C12Y406/01002

Abstract: The present application provides materials and methods for treating a patient with autosomal dominant CORD, both ex vivo and in vivo ; materials and methods for editing a GUCY2D gene in a human cell; and materials and methods for editing a R838H, R838C, or R838S mutation in a GUCY2D gene in a human cell. The present application also provides one or more gRNAs or sgRNAs for editing a GUCY2D gene; one or more gRNAs or sgRNAs for editing a R838H, R838C, or R838S mutation in a GUCY2D gene; and a therapeutic comprising at least one or more gRNAs or sgRNAs for editing a R838H, R838C, or R838S mutation in a GUCY2D gene. The present application provides a therapeutic for treating a patient with autosomal dominant CORD. The present application also provides a kit for treating a patient with autosomal dominant CORD. In addition, the present application provides a self-inactivating CRISPR-Cas system.