University of Arizona Department of Pediatrics Receives Muscular Dystrophy Grant
The U.S. Centers for Disease Control and Prevention (CDC) has funded researchers at the University of Arizona Department of Pediatrics to help expand the body of knowledge about muscular dystrophy, a condition that affects thousands of people nationwide.
The $1.2 million, three-year cooperative agreement is part of a multi-state effort to determine how many children and adults have either Duchenne or Becker muscular dystrophy, and to learn more about its genetic cause, long-term complications and most beneficial treatments. Researchers in Colorado, Iowa and New York are conducting similar studies.
"This is an important research effort that could have far-reaching implications for persons with muscular dystrophy and their families," says Chris Cunniff, MD, professor of Pediatrics and chief of the Section of Medical and Molecular Genetics.
The first goal is to determine specifically how many persons in Arizona have the diagnosis of Duchenne or Becker muscular dystrophy and where they are receiving their medical care. "Since these patients are being treated in different settings and by a number of sub-specialists in the state, there is no central database that can give us this information," Dr. Cunniff says. "This information gives us a crucial starting point for understanding the health and educational needs of this population."
Once UA researchers have identified all individuals with either type of muscular dystrophy, they will gain additional information about their medical care. "There are patients with muscular dystrophy who are receiving care in multi-disciplinary clinics, in private practice settings and perhaps other settings of which we are not aware," says John Meaney, PhD, research associate professor of Pediatrics and co- principal investigator for this program. "Collecting information about the type of medical services the person is receiving and correlating it with the progression of the disease will help us to determine the most effective practices for these patients," Dr. Meaney says.
The project's third goal is to investigate the underlying genetic abnormalities responsible for the disorder. Duchenne and Becker muscular dystrophy are caused by abnormalities of a gene responsible for making a protein called dystrophin, which is an important muscle protein. When dystrophin gene abnormalities are present, patients have progressive loss of muscle function. This project will attempt to characterize the gene abnormalities of patients to correlate the type of abnormality and the progression of the disease. UA researchers will collaborate with clinicians who direct Muscular Dystrophy Association-funded clinics in Tucson and Phoenix. This is the third surveillance program funded by the CDC and conducted by the UA Department of Pediatrics. Drs. Cunniff and Meaney also direct surveillance programs for autism spectrum disorders and fetal alcohol syndrome.