Duchenne Muscular Dystrophy
Entering a new chapter in the treatment of Duchenne
Duchenne muscular dystrophy (DMD) is one of the most serious genetic diseases in children worldwide, an X-linked pediatric neuromuscular disorder with an occurrence of 1 in 3,500–5,000 males. See a presentation by Dr. Wendy Chung, medical geneticist at Columbia University, New York, to learn some key clinical aspects of DMD, including pathophysiology, clinical course, and a comparison of promising gene therapies in development.
CK-MM: a newborn screening marker for Duchenne muscular dystrophy
With a host of life-altering therapies in development for Duchenne muscular dystrophy, it is vital to identify boys affected with DMD using newborn screening. Early detection enables earlier treatment and better outcomes. See a presentation by Professor Mei Baker of the University of Wisconsin Department of Pediatrics, where she discusses the performance of PerkinElmer’s CK-MM assay, used for first-tier screening for DMD.
Building infrastructure for Duchenne newborn screening pilot
In a New York pilot study that can serve as a model for future efforts in the USA and worldwide, over 17,000 newborns have been screened for DMD using PerkinElmer’s CK-MM assay. “We strongly believe that newborn screening for Duchenne would enable treatment using mutation-specific, muscle-directed therapies before muscle damage progresses,” says Dr. Amy Brower of the American College of Medical Genetics and Genomics. See her presentation to learn more.
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