NIH R01 · 2025
Expression of dystrophins with enhanced function
Project Summary/Abstract Duchenne muscular dystrophy (DMD) is an X-linked, lethal recessive genetic disorder resulting from mutations in the DMD gene, which encodes the protein dystrophin (Dys). The 2.2 MB gene displays the highest new mutation rate of any human gene, reflecting the high DMD prevalence (1:5,000). This large size coupled with thousands of unique mutations creates significant complexity for gene therapy. Previous studies by us and others led to the design of ‘micro-dystrophins’ (μDys) that can be delivered systemically to striated muscles using AAV vectors. This approach, along with anti-sense oligonucleotide (ASO) ‘exon-skipping’ methods, have emerged as promising therapies…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.