We seek to delineate complete genetic pathways for the formation and function of each muscle-cell type, and to devise pharmacologic and genetic therapies for inherited and acquired muscle diseases in humans.
Treating muscle disease by CRISPR/Cas9 genomic editing
We are using CRISPR/Cas9 genome editing to correct muscle abnormalities associated with Duchenne muscular dystrophy. We have optimized methods for delivery and genomic editing in vivo in mice and are working toward eventual therapies for this disease. We have also generated mouse models with cardiac and muscle specific expression of Cas9 that can be used for rapid gene deletion in vivo.
Molecular control of skeletal muscle disease
We have discovered numerous genes that control skeletal muscle formation and function. Mutations in these genes in mice have created models for understanding human muscle disease. We are currently using a variety of strategies to enhance muscle regeneration in the settings of muscle injury and diseases such as muscular dystrophy.