公开(公告)号：WO2022256283A2

公开(公告)日：2022-12-08

申请号：PCT/US2022/031511

申请日：2022-05-31

申请人： KORRO BIO, INC.

发明人： CHAPPELL, Todd, William ,  ERION, Derek, Mark ,  FRALEY, Andrew

IPC分类号： C12N15/113 ,  C12N15/10 ,  A61K31/7125 ,  A61P25/00 ,  C12N15/102 ,  C12N2310/11 ,  C12N2310/315 ,  C12N2310/321 ,  C12N2310/322 ,  C12N2320/34

摘要： The present invention relates to methods and compositions for restoring function of a pathogenic protein, the method comprising contacting a polynucleotide encoding the pathogenic protein with a guide oligonucleotide capable of effecting an adenosine deaminase acting on RNA (ADAR)-mediated adenosine to inosine alteration, wherein the adenosine to inosine alteration generates a restored amino acid, thereby restoring function of the pathogenic protein. The invention also relates to methods and compositions for treating a disease in a subject in need thereof, the method comprising identifying a subject with a pathogenic protein; contacting within the subject a polynucleotide encoding the pathogenic protein with a guide oligonucleotide capable of effecting an adenosine deaminase acting on RNA (ADAR)-mediated adenosine to inosine alteration, wherein the adenosine to inosine alteration generates a restored amino acid, thereby treating the disease in the subject.

公开(公告)号：WO2022240783A1

公开(公告)日：2022-11-17

申请号：PCT/US2022/028415

申请日：2022-05-10

申请人： REGENERON PHARMACEUTICALS, INC.

发明人： VERWEIJ, Niek ,  SOSINA, Olukayode ,  AKBARI, Parsa ,  LOCKE, Adam ,  BARAS, Aris ,  LOTTA, Luca Andrea

IPC分类号： A61P1/16 ,  A61P3/10 ,  A61K31/7088 ,  C12N15/113 ,  C12Q1/6883 ,  A61K31/7105 ,  A61K45/06 ,  C12N15/1137 ,  C12N2310/11 ,  C12N2310/14 ,  C12N2310/20 ,  C12N2310/531 ,  C12N2320/30 ,  C12N2320/34 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Y301/04017

摘要： The present disclosure provides methods of treating a subject having a liver disease or type 2 diabetes, and methods of identifying subjects having an increased risk of developing a liver disease or type 2 diabetes.

公开(公告)号：WO2021260227A1

公开(公告)日：2021-12-30

申请号：PCT/EP2021/067719

申请日：2021-06-28

申请人： CENTRO DE INVESTIGACIONES ENERGÉTICAS, MEDIOAMBIENTALES Y TECNOLÓGICAS, O.A., M.P. (CIEMAT) ,  CONSORCIO CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED, M.P. (CIBER) ,  FUNDACIÓN INSTITUTO DE INVESTIGACIÓN SANITARIA FUNDACIÓN JIMÉNEZ DÍAZ (FIIS-FJD) ,  THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIVERSITY

发明人： SEGOVIA SANZ, José Carlos ,  QUINTANA BUSTAMANTE, Óscar ,  FAÑANAS BAQUERO, Sara ,  PORTEUS, Matthew

IPC分类号： C12N15/113 ,  A61K48/00 ,  A61K48/005 ,  C12N15/1137 ,  C12N2310/20 ,  C12N2320/34 ,  C12N2330/51 ,  C12N2750/14143 ,  C12Y207/0104

摘要： The present invention relates to the treatment of Pyruvate Kinase Deficiency (PKD) using the Clustered- Regularly Interspaced Short Palindromic Repeats (CRISPR) system. This technology offers the possibility to design an improved single guide RNA (sgRNA), in particular, an improved crRNA to be associated with tracrRNA, which is incorporated into a CRISPR-associated protein (Cas9) to recognize and induce DNA double-strand breaks at a specific target location. DNA double-strand breaks will be repaired by homologous recombination (HR) in the presence of a donor sequence for PKLR gene repair.

公开(公告)号：WO2021247995A8

公开(公告)日：2021-12-09

申请号：PCT/US2021/035898

申请日：2021-06-04

申请人： VOYAGER THERAPEUTICS, INC.

发明人： SAH, Dinah, Wen-Yee ,  PAUL, Steven ,  HOU, Jinzhao ,  ZHOU, Pengcheng ,  CHEN, Qingmin ,  HOSSBACH, Markus ,  DECKERT, Jochen ,  JIN, Wen ,  COLPAN, Cansu ,  BROWN, Jeffrey ,  ZARIWALA, Hatim ,  KELLEY, Matt

IPC分类号： C12N15/113 ,  A61K31/7088 ,  C12N2310/14 ,  C12N2320/34

摘要： The present disclosure relates to small interfering RNA (siRNA) molecules against the mutant, variant, and/or wild type SCN3A, SCN9A, SCN10A and/or SCN11A gene, adeno-associated viral (AAV) vectors encoding siRNA molecules and methods for treating neuropathic pain using the siRNA molecules and AAV vectors.

公开(公告)号：WO2022256619A2

公开(公告)日：2022-12-08

申请号：PCT/US2022/032107

申请日：2022-06-03

申请人： ARBOR BIOTECHNOLOGIES, INC.

发明人： WESSELLS, Quinton, Norman ,  HASWELL, Jeffrey, Raymond ,  DITOMMASO, Tia, Marie ,  JAKIMO, Noah, Michael ,  SENGUPTA, Sejuti

IPC分类号： C12N15/113 ,  C12N9/22 ,  C12N15/90 ,  A61K48/00 ,  A61K38/46 ,  A61K31/7105 ,  A61K38/465 ,  C12N15/11 ,  C12N15/86 ,  C12N15/907 ,  C12N2310/20 ,  C12N2320/34 ,  C12N2750/14343 ,  C12N2800/80

摘要： A system for genetic editing of a transthyretin (TTR) gene, comprising (i) a Cas12i2 polypeptide or a first nucleic acid encoding the Cas12i2 polypeptide, and (ii) an RNA guide or a second nucleic acid encoding the RNA guide, wherein the RNA guide comprises a spacer sequence specific to a target sequence within an TTR gene. Also provided herein are methods for editing a TTR gene using the gene editing system disclosed herein and/or for treating diseases associated with the TTR gene.

公开(公告)号：WO2022169861A2

公开(公告)日：2022-08-11

申请号：PCT/US2022/014926

申请日：2022-02-02

申请人： THE BOARD OF REGENTS OF THE UNIVERSITY OF TEXAS SYSTEM

发明人： BUTLER, Ryan ,  GRAY, Steven, J. ,  KANG, Hye, Ri ,  MINASSIAN, Berge, A. ,  GUMUSGOZ, Emrah

IPC分类号： C12N15/113 ,  C12N2310/14 ,  C12N2310/531 ,  C12N2320/34

摘要： The present disclosure provides methods and compositions for the treatment of Angelman Syndrome The methods and compositions of the present disclosure comprise isolated nucleic acid molecules, rAAV vectors and rAAV viral vectors comprising polynucleotide sequences encoding for short hairpin RNA (shRNA) molecules directed against UBE3A- ATS.

公开(公告)号：WO2021243174A2

公开(公告)日：2021-12-02

申请号：PCT/US2021/034794

申请日：2021-05-28

申请人： EMENDOBIO INC. ,  EMMANUEL, Rafi ,  DICKEN, Joseph ,  GOLAN MASHIACH, Michal

发明人： EMMANUEL, Rafi ,  DICKEN, Joseph ,  GOLAN MASHIACH, Michal

IPC分类号： C12Q1/6881 ,  C12Q1/6827 ,  C12N9/22 ,  C12N15/111 ,  C12N15/1135 ,  C12N2310/20 ,  C12N2320/34

摘要： RNA molecules comprising a guide sequence portion having 17-50 contiguous nucleotides containing nucleotides in the sequence set forth in any one of SEQ ID NOs: 1-20246 and compositions, methods, and uses thereof.

公开(公告)号：WO2021222065A8

公开(公告)日：2021-11-04

申请号：PCT/US2021/029081

申请日：2021-04-26

申请人： ALNYLAM PHARMACEUTICALS, INC. ,  BOSTWICK, Bret, Lee ,  PENG, Haiyan ,  MCININCH, James, D. ,  CASTORENO, Adam ,  SCHLEGEL, Mark, K.

发明人： BOSTWICK, Bret, Lee ,  PENG, Haiyan ,  MCININCH, James, D. ,  CASTORENO, Adam ,  SCHLEGEL, Mark, K.

IPC分类号： C12N15/113 ,  A61K31/713 ,  C07H21/00 ,  A61P25/28 ,  C12N2310/14 ,  C12N2310/315 ,  C12N2310/344 ,  C12N2310/351 ,  C12N2310/3515 ,  C12N2320/31 ,  C12N2320/34

摘要： The disclosure relates to double stranded ribonucleic acid (dsRNAi) agents and compositions targeting an APOE gene, as well as methods of inhibiting expression of an APOE gene and methods of treating subjects having an APOE-associated neurodegenerative disease or disorder, e.g., Alzheimer's disease and Parkinson's disease, using such dsRNAi agents and compositions.

公开(公告)号：WO2021130313A1

公开(公告)日：2021-07-01

申请号：PCT/EP2020/087767

申请日：2020-12-23

申请人： PROQR THERAPEUTICS II B.V.

发明人： SWILDENS, Jim ,  VAN SINT FIET, Lenka ,  HOOGEBOOM, Tess ,  HAAST, Saskia Jacoba Petronella

IPC分类号： C12N15/113 ,  A61K48/00 ,  A61K31/7125 ,  A61K38/50 ,  A61P27/02 ,  C12N15/1138 ,  C12N15/90 ,  C12N2310/11 ,  C12N2310/315 ,  C12N2310/341 ,  C12N2320/34 ,  C12Y305/04004

摘要： The invention relates to RNA editing oligonucleotides (EONs) that can bring about specific editing of a target nucleotide (adenosine) in a target RNA molecule in a eukaryotic cell, wherein said oligonucleotide is for use in the treatment of Stargardt disease, and more preferably for the deamination of target adenosines present in the ABCA4 pre-mRNA or ABCA4 mRNA.

公开(公告)号：WO2021117009A2

公开(公告)日：2021-06-17

申请号：PCT/IB2020/061852

申请日：2020-12-11

申请人： MOORE, Tara

发明人： KOWALCZYK, Amanda

IPC分类号： C07K14/495 ,  C12N15/113 ,  C12N15/1136 ,  C12N2310/14 ,  C12N2310/344 ,  C12N2320/34 ,  C12N2320/53

摘要： The present disclosure relates to a ribonucleic acid (RNA) complex and methods of use thereof for preventing, ameliorating or treating symptoms associated with granular corneal dystrophy type 2 in a subject.