The NICHD is one of many federal agencies and NIH institutes working to understand muscular dystrophy (MD).
The NICHD’s Developmental Biology and Structural Variation Branch (DBSVB) supports basic and clinical research on normal and abnormal development that relates to the causes and prevention of structural birth defects, as well as research training in relevant academic and medical areas. Among the Branch’s high-priority research areas is basic research to advance understanding of the biochemical, molecular biologic, genetic, and cellular mechanisms of embryonic development.
DBSVB-supported research on MD includes work on dystroglycan, a protein that allows nerve cells to spread along the spinal cord in developing mammals. This research has generated new information about MDs and associated nerve and muscle degeneration that are caused by dystroglycan-related gene mutations. (PMID: 23217742)
The NICHD's Intellectual and Developmental Disabilities Branch (IDDB) sponsors training in muscle biology and MD research aimed at preventing and ameliorating intellectual and related developmental disabilities.
Past and present IDDB-supported research on MD includes drug therapy to help alleviate the symptoms of myotonic MD as well as several studies focused on Duchenne MD (DMD). These include the following:
IDDB’s support of MD research also produced this finding:
In addition, the NICHD's National Center for Medical Rehabilitation Research (NCMRR) leads two programs that support research for people with MD.
Recent NCMRR advances in MD research include the following:
The NICHD is also active in the following projects that are related to MD research:
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