University of Massachusetts

Janice A Dominov

Robert H Brown, Jr

The relates, in some aspects, to antisense oligonucleotide compositions and methods for modifying pre-mRNA splicing in a DYSF gene using the same. In some embodiments, the DYSF gene comprises a novel mutation that results in a pseudoexon between exons 50 and 51.

Antisense oligonucleotides to restore dysferlin protein expression in dysferlinopathy patient cells

Aspects of the disclosure relate to methods of altering RNA splicing in a subject. In some embodiments, methods are provided for correcting splicing in a cell that contains a DYSF gene having a mutation that results in defective splicing.

Growing community of inventors

North Reading, MA, United States of America

Janice A Dominov