公开(公告)号：US20170360873A1

公开(公告)日：2017-12-21

申请号：US15536416

申请日：2015-12-15

申请人： The Governing Council of the University of Toronto ,  Sinai Health System

发明人： Benjamin J. Blencowe ,  Mathieu Quesnel-Vallieres ,  Manuel Irimia ,  Bushra Raj ,  Sabine P. Cordes

IPC分类号： A61K38/05 ,  G01N33/68 ,  A01K67/027 ,  C12Q1/68 ,  A61K49/00 ,  A61K31/7088

摘要： Methods for treatment and diagnosis of neurological disorders such as autism and autism spectrum disorder are disclosed. Also disclosed are modulators of alternative splicing regulators SRRM4 and/or SRRM3 for treating neurological disorders. Further disclosed are agents that modulate the expression of at least one splice variant for treating neurological disorders. Mouse models of neurological disorders having increased or decreased expression of SRRM4 and/or SRRM3 are also disclosed.

公开(公告)号：US10772928B2

公开(公告)日：2020-09-15

申请号：US15536416

申请日：2015-12-15

申请人： The Governing Council of the University of Toronto ,  Sinai Health System

发明人： Benjamin J. Blencowe ,  Mathieu Quesnel-Vallieres ,  Manuel Irimia ,  Bushra Raj ,  Sabine P. Cordes

IPC分类号： A61K38/55 ,  A61K38/05 ,  A61K31/7088 ,  G01N33/68 ,  C12Q1/6883 ,  A61K38/46 ,  G01N33/50 ,  A01K67/027 ,  C07K14/47 ,  A61K45/06 ,  A61K31/713 ,  A61K49/00

摘要： Methods for treatment and diagnosis of neurological disorders such as autism and autism spectrum disorder are disclosed. Also disclosed are modulators of alternative splicing regulators SRRM4 and/or SRRM3 for treating neurological disorders. Further disclosed are agents that modulate the expression of at least one splice variant for treating neurological disorders. Mouse models of neurological disorders having increased or decreased expression of SRRM4 and/or SRRM3 are also disclosed.

公开(公告)号：US20220348910A1

公开(公告)日：2022-11-03

申请号：US17615007

申请日：2020-06-01

申请人： THE GOVERNING COUNCIL OF THE UNIVERSITY OF TORONTO

发明人： Thomas GONATOPOULOS-POURNATZIS ,  Michael AREGGER ,  Jason MOFFAT ,  Benjamin J. Blencowe ,  Kevin Brown ,  Shaghayegh Farhangmehr

IPC分类号： C12N15/11 ,  C12N15/10 ,  C12N15/64 ,  G16B30/00

摘要： A hybrid guide RNA (hgRNA) comprising a proximal spacer, a distal spacer, a type II CRISPR-Cas tracrRNA, and a type V CRISPR-Cas direct repeat. Also provided herein are further multiplexed hgRNAs comprising additional direct repeats and spacers as well as methods of making and using thereof. Libraries comprising said hgRNAs or components thereof, cells, kits and reagents employed in the making or use thereof are also provided.