公开(公告)号：US11166949B2

公开(公告)日：2021-11-09

申请号：US16096536

申请日：2017-04-26

Applicant: The Board of Regents of the University of Texas System

Inventor： Eric N. Olson ,  Rhonda Bassel-Duby ,  Leonela Amoasii

IPC: A61K31/47 ,  A61P3/04 ,  A61K31/4706 ,  A61K38/28 ,  A61K45/06 ,  A61K31/437 ,  A61K38/22 ,  A61P1/16

Abstract: The present disclosure relates to the identification of Nurr1 as a key regulator of metabolism, and the use of Nurr1 agonist to treat metabolic disorders such as diabetes, obesity, metabolic syndrome and hepatic steatosis.

公开(公告)号：US10687520B2

公开(公告)日：2020-06-23

申请号：US15914728

申请日：2018-03-07

Applicant: The Board of Regents of the University of Texas System

Inventor： Yi-Li Min ,  Rhonda Bassel-Duby ,  Eric Olson

IPC: A01K67/00 ,  C12N15/00 ,  C07H21/02 ,  C07H21/04 ,  A01K67/027 ,  C12N9/22 ,  C12N9/96 ,  C12N15/11 ,  A61K38/46 ,  A61K31/7105 ,  A61P21/00 ,  C12N15/113 ,  A61K48/00 ,  C12N15/85

Abstract: Duchenne muscular dystrophy (DMD), which affects 1 in 5,000 male births, is one of the most common genetic disorders of children. This disease is caused by an absence or deficiency of dystrophin protein in striated muscle. The major DMD deletion “hot spots” are found between exon 6 to 8, and exons 45 to 53. Here, a “humanized” mouse model is provided that can be used to test a variety of DMD exon skipping strategies. Among these are, CRISPR/Cas9 oligonucleotides, small molecules or other therapeutic modalities that promote exon skipping or micro dystrophin mini genes or cell based therapies. Methods for restoring the reading frame of exon 44 deletion via CRISPR-mediated exon skipping in the humanized mouse model, in patient-derived iPS cells and ultimately, in patients using various delivery systems are also contemplated. The impact of CRISPR technology on DMD is that gene editing can permanently correct mutations.