University of Texas System

Rhonda Bassel-Duby

Eric N Olson

Benjamin R Nelson

Catherine A Makarewich

Leonela Amoasii

Yi-Li Min

John M Shelton

John R McANALLY

Chengzu Long

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.

NURR1 activation in the treatment of metabolic disorders and as an exercise mimetic

The present disclosure describes a new native peptide designated herein as Dwarf Open Reading Frame, or DWORF. This peptide enhances the apparent activity of the SERCA pump, is positively inotropic and lusitropic, and therefore is provided as a therapeutic agent for disorders characterized by cytosolic calcium overload.

Use of a small native peptide activator of SERCA pump for treatment of heart failure and other disorders characterized by cytosolic calcium overload

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.

Generation and correction of a humanized mouse model with a deletion of dystrophin exon 44

Growing community of inventors

Dallas, TX, United States of America

Rhonda Bassel-Duby