Janice A Dominov
Title: Antisense Oligonucleotides to Restore Dysferlin mRNA and Protein Expression in Dysferlin-deficient Cells. UMMS14-41; Patent Pening.
This technology originates from identification of a deep intronic mutation in Dyferlin (DYSF) that alters mRNA splicing to include a mutant peptide fragment within a key DYSF domain. This new antisense oligo nucleotide(AON-)mediated exon-skipping to restore production of normal, full-length DYSF in patients' cells in vitro, offering therapeutic solution for patient with Dyferlin-associated maladies.