公开(公告)号：US20220088058A1

公开(公告)日：2022-03-24

申请号：US17356147

申请日：2021-06-23

Applicant: Cold Spring Harbor Laboratory ,  Stoke Therapeutics, Inc.

Inventor： Isabel Aznarez ,  Huw M. Nash ,  Adrian Krainer

IPC: A61K31/7125 ,  A61K31/712 ,  C12Q1/6883 ,  C12N15/113 ,  C12Q1/68 ,  A61K31/713 ,  A61P43/00

Abstract: Provided herein are methods and compositions for treating a subject in need thereof, such as a subject with deficient SYNGAP1 protein or SCN1A protein expression or a subject having AD mental retardation 5 or Dravet syndrome.

公开(公告)号：US20220071981A1

公开(公告)日：2022-03-10

申请号：US17532123

申请日：2021-11-22

Applicant: THE CHILDREN'S HOSPITAL OF PHILADELPHIA ,  THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA ,  COLD SPRING HARBOR LABORATORY

Inventor： Gerd Blobel ,  Jeremy Grevet ,  Junwei Shi ,  Christopher Vakoc

IPC: A61K31/454 ,  A61P7/06 ,  A61K31/517 ,  C12N15/113

Abstract: Methods and compositions for producing fetal hemoglobin and treating a hemoglobinopathy or thalassemia are disclosed.

公开(公告)号：US11083745B2

公开(公告)日：2021-08-10

申请号：US16062286

申请日：2016-12-14

Applicant: Cold Spring Harbor Laboratory ,  Stoke Therapeutics, Inc.

Inventor： Isabel Aznarez ,  Huw M. Nash ,  Adrian Krainer

IPC: C07H21/04 ,  A61K31/7125 ,  A61K31/712 ,  C12Q1/6883 ,  C12N15/113 ,  C12Q1/68 ,  A61K31/713 ,  A61P43/00

Abstract: Provided herein are methods and compositions for treating a subject in need thereof, such as a subject with deficient SYNGAP1 protein or SCN1A protein expression or a subject having AD mental retardation 5 or Dravet syndrome.

公开(公告)号：US11058709B1

公开(公告)日：2021-07-13

申请号：US15781249

申请日：2016-12-05

Applicant: Cold Spring Harbor Laboratory ,  Ionis Pharmaceuticals, Inc.

Inventor： David L. Spector ,  Sarah Daniela Diermeier ,  Frank Rigo ,  C. Frank Bennett ,  Susan M. Freier ,  Gayatri Arun ,  Kung-Chi Chang

IPC: A61K31/713 ,  A61P35/00 ,  A61K31/175 ,  A61K31/712 ,  A61K31/7125 ,  C07H21/04 ,  C12N15/113

Abstract: Provided herein are methods, compounds, and compositions for reducing expression of a MaTAR in an animal. Such methods, compounds, and compositions are useful to treat, prevent, delay, or ameliorate breast cancer in an individual in need.

公开(公告)号：US20200283762A1

公开(公告)日：2020-09-10

申请号：US16839034

申请日：2020-04-02

Applicant: Cold Spring Harbor Laboratory

Inventor： Adrian Krainer ,  Isabel Aznarez ,  Tomoki Nomakuchi

IPC: C12N15/11 ,  A61K31/713 ,  C12Q1/6883 ,  A61K31/4245 ,  A61K31/726

Abstract: The present disclosure relates to compositions and methods for inhibiting nonsense-mediated mRNA decay in a gene-specific manner, for example in the treatment of diseases or disorders caused by nonsense mutations.

公开(公告)号：US10696969B2

公开(公告)日：2020-06-30

申请号：US15949902

申请日：2018-04-10

Applicant: Cold Spring Harbor Laboratory

Inventor： Adrian Krainer ,  Isabel Aznarez

IPC: C12N15/113 ,  C07K14/805 ,  C07K14/47 ,  C12N15/11 ,  C12Q1/6883

Abstract: Provided herein are methods and compositions for increasing production of a target protein or functional RNA by a cell.

公开(公告)号：US20200032260A1

公开(公告)日：2020-01-30

申请号：US16422128

申请日：2019-05-24

Applicant: Ionis Pharmaceuticals, Inc. ,  Cold Spring Harbor Laboratory

Inventor： C. Frank Bennett ,  Frank Rigo ,  Adrian R. Krainer ,  Rahul Sinha

IPC: C12N15/113 ,  C12N15/11

Abstract: The present disclosure provides compounds comprising oligonucleotides complementary to a portion of the IKBKAP gene. Certain such compounds are useful for hybridizing to a portion of the IKBKAP gene, including but not limited to a portion of the IKBKAP gene in a cell. In certain embodiments, such hybridization results in modulation of splicing of the IKBKAP gene. In certain embodiments, the IKBKAP gene includes a mutation that results in defective splicing and a truncated IKAP protein. In certain embodiments, hybridization of oligonucleotides complementary to a portion of the IKBKAP gene results in a decrease in the amount of defective splicing and truncated IKAP protein. In certain embodiments, hybridization of oligonucleotides complementary to a portion of the IKBKAP gene results in an increase in the amount of normal splicing and functional, full-length IKAP protein. In certain embodiments, oligonucleotides are used to treat Familial Dysautonomia.

公开(公告)号：US20180371457A1

公开(公告)日：2018-12-27

申请号：US15993090

申请日：2018-05-30

Applicant: Ionis Pharmaceuticals, Inc. ,  Cold Spring Harbor Laboratory

Inventor： C. Frank Bennett ,  Frank Rigo ,  Adrian R. Krainer ,  Rahul Sinha

IPC: C12N15/113 ,  C12N15/11

CPC classification number: C12N15/113 ,  C12N15/111 ,  C12N2310/11 ,  C12N2310/113 ,  C12N2310/315 ,  C12N2310/321 ,  C12N2310/322 ,  C12N2310/3233 ,  C12N2310/3521 ,  C12N2310/3525 ,  C12N2310/3533 ,  C12N2320/33

Abstract: The present disclosure provides compounds comprising oligonucleotides complementary to a portion of the IKBKAP gene. Certain such compounds are useful for hybridizing to a portion of the IKBKAP gene, including but not limited to a portion of the IKBKAP gene in a cell. In certain embodiments, such hybridization results in modulation of splicing of the IKBKAP gene. In certain embodiments, the IKBKAP gene includes a mutation that results in defective splicing and a truncated IKAP protein. In certain embodiments, hybridization of oligonucleotides complementary to a portion of the IKBKAP gene results in a decrease in the amount of defective splicing and truncated IKAP protein. In certain embodiments, hybridization of oligonucleotides complementary to a portion of the IKBKAP gene results in an increase in the amount of normal splicing and functional, full-length IKAP protein. In certain embodiments, oligonucleotides are used to treat Familial Dysautonomia.

公开(公告)号：US20180291376A1

公开(公告)日：2018-10-11

申请号：US15818073

申请日：2017-11-20

Applicant: Biogen MA Inc. ,  Cold Spring Harbor Laboratory

Inventor： Brenda F. Baker ,  Adrian R. Krainer ,  Yimin Hua

IPC: C12N15/113 ,  C12N15/11

Abstract: Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a cell, tissue or animal. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy.

公开(公告)号：US20180139366A1

公开(公告)日：2018-05-17

申请号：US15811234

申请日：2017-11-13

Applicant: Cold Spring Harbor Laboratory

Inventor： Arun Narasimhan ,  Judith Mizrachi ,  Kannan Umadevi Venkataraju ,  Dinu F. Albeanu ,  Pavel Osten

IPC: H04N5/225 ,  A61B1/00

CPC classification number: H04N5/2256 ,  A61B1/00193 ,  A61B5/0059 ,  G02B21/002 ,  G02B21/0032 ,  G02B21/16 ,  G02B21/367 ,  G02B2207/114 ,  H04N2005/2255

Abstract: An exemplary system and method for imaging tissue includes using an illumination objective, directing one or multi photon excitation lights onto a portion of a tissue from a position on top and at an oblique angle relative to the tissue while the tissue is mounted on a stage. The method further includes generating a tissue-penetrating light-sheet from the one or multi photon excitation lights. Using a detection objective, the method detects the tissue-penetrating light-sheet. Upon detecting the tissue-penetrating light-sheet, it uses the detection objective, to collect fluorescent signals from the tissue and uses the fluorescent lights to acquire a first image of the tissue while the tissue is an imaging position. A second image of the tissue is acquired while the tissue is in the imaging position. The first and second images each defined by first and second data, respectively. Subsequently, the tissue is moved to a sectioning position and with the use of an integrated Vibratome, a portion of the tissue, with known thickness, is sectioned. The process repeats until the tissue, in its entirety, has been sectioned, with images acquired each time. Image data, from the acquired images, are stitched to create a 3-dimensional 3D) image of the tissue.