Children's National Medical Center is a national and international leader in translational and clinical studies of Duchenne muscular dystrophy. This research seeks to increase understanding of the disorder at every level. At the Center for Genetic Medicine Research, the focus is to break down this complex disorder into biochemical pathways and better process how these pathways interact.
Genetic researchers at Children’s National Medical Center and the National Center of Neurology and Psychiatry in Tokyo published the results of the first successful application of “exon-skipping” to curb the devastating effects of Duchenne muscular dystrophy in an animal larger than a mouse.
The study, conducted in Japan and the United States, published in the peer-reviewed journal Annals of Neurology, treated dogs with naturally occurring canine X-linked muscular dystrophy, a disease which is genetically homologous to the Duchenne muscular dystrophy that strikes 1 of every 3,500 boys born in the United States and worldwide each year. Full story...
Watch our research video of the treated and non-treated dogs below.
Use the links to the right to view the
treatment cycle of the dogs.
U.S. Department of Defense (DoD) Program Project
Under a grant from the U.S. Department of Defense, Children’s National develops experimental therapeutics for the muscular dystrophies. Children’s conducts translational research focused on experimental therapeutics for Duchenne muscular dystrophy with the goal of expediting approaches to improve patient care and quality of life.
Wellstone Muscular Dystrophy Center
The Wellstone Muscular Dystrophy Center of Washington, DC, is housed within Children's National Medical Center. The center is interdisciplinary, and includes physicians, molecular geneticists, computer scientists, veterinarians, and genetic counselors, all with specialized expertise in muscular dystrophy. The Wellstone Center also incorporates and integrates an international clinical trial coordinating center (see link below) and state-of-the-art genomics, proteomics, and mRNA profiling research.
The Cooperative International Neuromuscular Research Group (CINRG)
CINRG was formed in 1999 as the clinical research arm of the Duchenne Muscular Dystrophy Research Center (DMDRC) and the Research Center for Genetic Medicine at Children's National Medical Center. The program provides a continuum of well-designed clinical trials in a geographically dispersed network of clinics that make trials available to every child with Duchenne muscular dystrophy around the world.
National Initiative for Families with Duchenne
The National Initiative for Families with Duchenne (NIFD) is an effort to gather information about families of people with DMD from all over the United States. This survey asks about:
the impact of having a child with DMD on the family;
the needs of families for health services and their use of those services;
the factors that may affect the quality of life of people with DMD and their families.
Mechanism of PRO051 in the restoration of Dystrophin Expression through Exon Skipping.
Normal muscle produces dystrophin, a critical protein, in response to signals encoded in a precise lockstep manner into mRNA. The mRNA is then translated into dystrophin protein. In the muscle of patients with Duchenne muscular dystrophy, mutations in the dystrophin gene lead to the loss of one or more exons. The mRNA splices together the remaining exons; however, the missing pieces lead to errors in translation (frame shift) and loss of production of the dystrophin protein. Intramuscular injection of a small modified DNA molecule can enter Duchenne-affected muscle through abnormal muscle membranes; then enters the nucleus and binds to the dystrophin mRNA. The modified DNA molecule allows the mRNA to skip over the affected exons, and restores the reading frame of the mRNA, for new production of dystrophin. The dystrophin that is produced is not normal but probably retains considerable function.