LGMD2B/R2 is a form of dysferlinopathy caused by disease-causing variants in the DYSF gene. This gene provides instructions for producing dysferlin, a protein that plays an essential role in repairing damage to the membrane surrounding muscle cells.

Without sufficient functional dysferlin, damaged muscle-cell membranes cannot be repaired effectively. Repeated cycles of muscle contraction can therefore lead to progressive muscle-fiber damage, inflammation, and muscle weakness. Our research focuses on correcting the underlying genetic variants and restoring dysferlin function to support normal muscle-cell membrane repair.

LGMD2B/R2 presents a distinct research challenge: correcting disease-causing variants in the DYSF gene while achieving meaningful and lasting improvement in muscle function.

Our research brings together prime editing, LNP-mediated delivery, safety assessment, and functional evaluation with the goal of correcting disease-causing variants in the DYSF gene, restoring dysferlin expression, and improving muscle-cell membrane repair.

By maintaining a dedicated focus on LGMD2B/R2, we aim to evaluate genetic correction, delivery efficiency, safety, and biological function as parts of a connected research strategy. This disease-centered approach guides our efforts to advance durable therapeutic strategies.

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