University of Rochester

Ionis Pharmaceuticals, Inc.

The General Hospital Corporation

University of Florida Research Foundation Inc

Maurice S. Swanson

Thurman Wheeler

Charles A Thornton

Susan M Freier

Seng H Cheng

Bruce M Wentworth

Andrew Leger

C Frank Bennett

Robert Osborne

Xandra O Breakefield

Robert A MacLeod

Sanjay K Pandey

Leonora Balaj

Maurice Scott Swanson

Krzysztof Sobczak

Jill Miller

Maurice S Swanson

Krzysztof Sobezak

Maurice Swanson

Sanjey K Pandey

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Described herein are methods for diagnosing and monitoring subjects with diseases associated with aberrant splicing, based upon detecting properly spliced isoforms and mis-spliced isoforms in a urine sample from the subject.

Extracellular mRNA markers of muscular dystrophies in human urine

Provided herein are methods, compounds, and compositions for reducing expression of a DMPK mRNA and protein in an animal. Also provided herein are methods, compounds, and compositions for preferentially reducing CUGexp DMPK RNA, reducing myotonia or reducing spliceopathy in an animal. Such methods, compounds, and compositions are useful to treat, prevent, delay, or ameliorate type 1 myotonic dystrophy, or a symptom thereof.

Modulation of dystrophia myotonica-protein kinase (DMPK) expression

Disclosed are compositions and methods related to the interaction of polyCUG and polyCCUG repeat RNA and proteins that bind to these repetitive RNA sequences. Also disclosed are methods of treating DM1 or DM2 comprising inhibiting the interaction of poly(CUG)or poly(CCUG)RNA with muscleblind proteins, or by causing improvement of spliceopathy in myotonic dystrophy.

Compositions and methods related to protein displacement therapy for myotonic distrophy

Growing community of inventors

Rochester, NY, United States of America

Thurman Wheeler