Sarepta is pursuing the development of precision genetic medicine at the forefront of biotechnology for rare diseases: gene therapy, RNA-targeted exon skipping, and gene editing. And we’re constantly looking for new ways to tackle rare genetic diseases, which include developing drugs faster with more predictability, differentiated manufacturing processes, and novel reimbursement models.
The following provides a general overview of the three modalities Sarepta is pursuing—gene therapy, RNA technologies, and gene editing.
A genetic mutation in DNA causing absent or dysfunctional protein can lead to a neuromuscular disease such as Duchenne muscular dystrophy (DMD) or limb-girdle muscular dystrophy (LGMD).
The goal of gene therapy is to add a functional copy (a transgene) of a missing or malfunctioning gene, with the hope of treating the disease.
Genetic diseases can be caused by a mutation in the gene. Most commonly, one or more exons (parts of the gene) are missing, causing errors in the instructions for making a protein, which results in the body not being able to produce enough—or any—of the protein. The goal of exon skipping, is to act on the RNA to allow the body to make a version of the missing protein to bypass the mutation.
Sarepta is investigating ways to restore protein expression by removing—or excising—exons that contain a genetic mutation using gene editing technology such as CRISPR/Cas9.