DMD Newborn Screening

Duchenne muscular dystrophy (DMD) is the most common, severe childhood form of muscular dystrophy. In 2004, Center for Disease Control workshop participants concluded that early diagnosis of DMD could have potential advantages for families.  Funds were made available to Dr. Jerry Mendell and his team at Nationwide Children’s Hospital to explore the feasibility for establishing a model for DMD newborn screening in the United States.   

Dr. Mendell’s team and the DNA Sequencing Core Facility at the University of Utah have developed an approach to newborn screening for DMD and potentially other muscular dystrophies. As a model for newborn screening, the approach published online in January 2012 in the Annals of Neurology provides evidence that this approach could be implemented if approved by regulatory bodies at a state level or alternatively through the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.   

Resources

In the News

January 31, 2013

Dr. Jerry Mendell presents to the Secretary’s Advisory Committee on Heritable Diseases in Newborns and Children.  Approval of this committee is a critical step in designating the DMD newborn screening test as “acceptable.” 

September 11 – September 12, 2012

MDA-sponsored workshop on newborn screening for DMD during the MDA Muscle Symposium in Washington, D.C.  Co-chaired by Dr. Jerry Mendell from Nationwide Children’s and Michele Lloyd-Puryear from the National Institute of Child Health and Development/National Institutes of Health.

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