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.
Most common questions
Can folic acid help prevent birth defects?
Studies show that if all women in the United States took the recommended amount of folic acid before and during early pregnancy, up to 70 percent of neural tube defects (NTDs) could be prevented. Folic acid also may help prevent other birth defects, including cleft lip/palate and some heart defects.
How many babies are born with birth defects?
More than 120,000 babies (1 in 33) in the United States are born each year with birth defects.
What Causes birth defects?
Genetic and environmental factors, or some combination of these factors, can cause birth defects. Some of the most common birth defects, including heart defects, cleft lip/palate, and neural tube defects (serious birth defects of the brain and spinal cord) are believed to be caused by a combination of genetic and environmental factors. However, the causes of most birth defects are unknown.