Abstract: The present invention is related to the field of genetic engineering. In particular, the repair, reversion and/or conversion of genetic mutations that are linked to a muscular dystrophy disease. Specifically contemplated are gene editor nuclease proteins or base editor proteins that are targeted to the muscular dystrophy genetic mutations or pathogenic variants. Such gene editor nuclease proteins include, but are not limited to Cas12a nuclease proteins and adenine base editor proteins. Repair, reversion and/or disruption of the genetic mutation or pathogenic variant reduces at least one symptom of a muscular dystrophy disease.

Abstract: The present invention is directed to the filed of gene therapy. In particular, compositions and methods are disclosed that repair gene microduplication mutations by reversion to a wild type sequence. For example, the creation of a double stranded break by a programmable nuclease protein within a microduplication induces the microhomology mediated end joining DNA repair pathway that in the process of DNA repair removes the microduplication mutation and restores the wild type sequence.

Abstract: Compositions and methods for identifying new treatments for Facioscapulohumeral muscular dystrophy (FSHD), and uses thereof.

Abstract: Compositions and methods for identifying new treatments for Facioscapulohumeral muscular dystrophy (FSHD), and uses thereof.

Abstract: Methods and compositions for inhibiting FGF signaling are described. Methods of the invention include contacting an FGF-responsive cell with exogenous heparan sulfate 6-O endosulfatase (Sulf1) in an amount effective to modify endogenous heparan sulfate, thereby inhibiting FGF signaling. Methods of the invention also include contacting an FGF-responsive cell with an exogenous Sulf1-modified compound, the exogenous Sulf1-modified compound being characterized by the ability to reduce binding of FGF2 or FGF4 to FGFR1. Compositions comprising exogenous Sulf1-modified compounds are also provided for use in conjunction with methods of the present invention.