University of Massachusetts

Takako Jones

Peter L Jones

Oliver D King

Johnny Salameh

Charis L Himeda

Colin Quinn

The disclosure relates to methods and compositions for regulating expression of DUX4. Specifically, the disclosure provides a recombinant gene editing complex comprising: a recombinant gene editing protein; and, a nucleic acid encoding a guide RNA (gRNA) that specifically hybridizes to a target nucleic acid sequence encoding a D4Z4 macrosatellite repeat region, wherein binding of the complex to the target nucleic acid sequence results in inhibition of DUX4 gene expression. In some aspects, methods described by the disclosure are useful for treating a disease associated with aberrant DUX4 expression (e.g., facioscapulohumeral muscular dystrophy, FSHD).

Silencing of DUX4 by recombinant gene editing complexes

The present invention includes methods of determining whether an individual in need thereof has, or is at risk of developing, facioscapulohumeral muscular dystrophy (FSHD).

Growing community of inventors

Boston, MA, United States of America

Takako Jones