Duchenne muscular dystrophy (DMD) is a severe degenerative muscle disease caused by mutations in the gene that encodes dystrophin, an essential muscle-building, shock absorbing and signaling protein. Onset of DMD, which affects about one in 5,000 male births, occurs in early childhood and leads steadily to lost mobility and life-threatening heart and diaphragm malfunctions. While people with DMD can live into middle-age, the best therapies only alleviate symptoms and slow progression of the disease.
For the last thirty years ISCRM faculty member Jeff Chamberlain, PhD has been part of an effort to fix the underlying problems by using a harmless virus to carry a synthetic, miniaturized version of the gene to cells (dystrophin is the largest known human gene).
On June 22, 2023, the FDA approved the first-ever gene therapy for DMD – an approach to treating the disease, developed by Sarepta Therapeutics, that is based in part on technology designed by Chamberlain and his collaborators at UW Medicine. Approval for the treatment was limited to boys aged 4-5.
