Madhuri Hegde, executive director of the genetics laboratory and associate professor of human genetics at Emory University School of Medicine in Atlanta, Ga., was awarded a one-year MDA research grant totaling $84,924 to advance methods for newborn screening (NBS) for Duchenne muscular dystrophy (DMD).
Recently, a two-step NBS process was developed for detecting DMD in newborns, with a very high detection rate at relatively low cost. In the first step, a drop of blood is analyzed for the presence of the protein creatine kinase. A high level of this protein is associated with muscle damage. In the second step, newborns with a high protein level receive a genetic test for the mutated gene responsible for DMD.
Detection of a DMD-causing mutation provides families with information for future planning, and as new treatments are developed, allows the earliest possible treatment for their child. “Therefore, it is in the best interest of the patients, families and the nation to provide an efficient newborn screening method for DMD to reduce further burden,” says Hegde.
Her project will further refine the two-step screen, using new gene detection techniques to speed analysis. “Our study will help establish a high-throughput, low-cost screening method which can be implemented in NBS programs to efficiently rule out the false positives detected by the creatine kinase level testing,” she says. “The project is aimed to ultimately reduce DMD disease burden.”
Funding for this MDA grant began Feb. 1, 2013.