Novel gene therapy

Duchenne muscular dystrophy (DMD) occurs in about 1 in 3,500 male births. Boys with DMD usually need a wheelchair by age 10, and often die in their late teens or early twenties.

Scientists have long been seeking to develop gene therapy to treat DMD. However, they have run into a number of obstacles, including difficulties in inserting a healthy gene into the precise spot in the genome where it is needed. March of Dimes grantee Charles Gersbach, PhD, of Duke University, is attempting to find a new way around these obstacles.

Dr. Gersbach is using a novel form of gene therapy called “gene editing.” Instead of replacing the faulty gene, Dr. Gersbach is using new technology to find and fix the mutation (change) in the gene. In cell samples in the lab, this approach successfully  corrected the mutation. This allowed the cells to produce a protein called dystrophin that muscle cells need to survive. Boys with DMD lack this protein.

If additional studies show gene editing is effective, it could potentially be used to treat other genetic diseases, such as sickle cell disease.