Research on Diseases

Muscular DisordersBy combining myoblasts and microcarriers in a bioreactor, researchers can greatly increase the number of muscle stem cells. They can then easily separate them from the myoblasts. Photo courtesy of Douglas Cowan, Children's Hospital Boston.

At Children's Hospital Boston, stem cell scientist George Q. Daley, MD, PhD, led his team in creating 10 lines of induced pluripotent stem cells (iPS cells), which are mature body cells reprogrammed to look and function like embryonic stem cells, with the potential to develop into any cell type. The team created each of these iPS lines by taking cells from patients afflicted with a number of diseases, including muscular dystrophy. Studying these iPS cells in the lab will give scientists a chance to see how these patients' respective diseases develop, and how the diseases can be treated.

In addition to disease modeling, scientists are interested in learning how stem cells, particularly muscle stem cells, can treat muscular dystrophy directly. Children’s researcher Lou Kunkel, PhD, and an affiliate member of the Stem Cell Program at Boston Children’s Hospital, has conducted studies in mice, zebrafish and human patients, in an attempt to find ways to increase the ability of blood stem cells to produce the muscle protein dystrophin, and to increase the muscles’ ability to take up these cells.

Fellow researcher Emanuela Gussoni, PhD, an affiliate member of the Program, is using mouse models to investigate the effects of two different types of cells: satellite cells, which are the skeletal muscles’ own stem cells, and side population cells, a special cell that previous research shows can give rise to satellite cells. Because stem cells need to physically fuse with existing muscle cells in order to be therapeutic, Gussoni’s lab is studying how this process works. Also, the researchers are studying special chemical messengers that side population cells secrete to activate muscle stem cells. This research may make it possible for future therapies to regenerate muscle tissue as well as stimulate the body’s own muscle stem cells.



  • Muscular Dystrophy at Children’s

    If your child has muscular dystrophy, you can learn more about how Children’s Hospital Boston can help by visiting our Neuromuscular Program.

  • Myopathy research

    Children’s Hospital Boston has a history of studying muscle-weakening diseases, spanning more than 20 years. Read this feature article about the latest research.

  • Cellular reprogramming to create iPS

    Cellular reprogramming to create iPS cells was named Breakthrough of the Year for 2008 by Science magazine. For more information on Children’s Hospital Boston disease-specific lines of iPS cells, check out this news release and feature story.