We care about your privacy. Read about your rights and how we protect your data. Get Details
Muscle Pathology

About the Lab

Muscular dystrophies are genetic disorders characterized by muscle regenerative deficits, extensive muscle loss and fibrosis. One such disease, Duchenne muscular dystrophy (DMD), is a severe and relentlessly progressive myopathy that results from mutations in the X-linked DMD gene that disrupt the mRNA reading frame and prevent translation of the muscle structural protein, dystrophin. In DMD, the lack of dystrophin leads to chronic muscle degeneration, inflammation and fibrosis, resulting in a loss of muscle structural integrity and myofiber death. A promising genetic therapeutic strategy for DMD and other neuromuscular diseases is 'exon skipping' through the use of antisense oligonucleotides (AOs). This class of drug allows for ‘exon skipping’ of the mutated exons in the patient’s dystrophin gene to restore a functional, truncated dystrophin protein, and is currently the only approved genetic therapy for the treatment of DMD. A major focus of our research investigates how the complex pathological processes in DMD and muscular dystrophies modulate the delivery and therapeutic efficacy of antisense chemistries and gene therapies to develop novel delivery strategies to improve the pharmacokinetics and efficacy of these therapeutic agents for muscle diseases.

Read More

Highlights from the Lab

  • Internship Opportunities

    Our laboratory is committed to training and mentoring the next generation of young scientists.

  • News

    Experimental model mimics early-stage myogenic deficit in boys with DMD.