At the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at BBRI, researchers have developed a unique resource to unravel the genetic mysteries and find treatments for facioscapulohumeral muscular dystrophy (FSHD), a genetic skeletal muscle disease that causes progressive skeletal muscle weakness disease in children and adults.  Because FSHD is a complex genetic that is difficult to study in patients, the Wellstone Center has established a unique library of skeletal muscle stem cells (myogenic cells) derived from muscles of FSHD patients and their unaffected family members.  This library is described in a paper just published in the European Journal of Human Genetics, entitled: A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. 

The stem cells deposited in this library provide a simplified way to investigate the underlying causes of FSHD and develop novel therapies. Skeletal muscle stem cells are present in all of the muscles of the body and normally play an important role in repairing muscles after everyday wear-and-tear use and in response to injury and disease. When stem cells are isolated from muscles of patients with genetic diseases and grown in cell culture outside of the body, these stem cells differentiate into mature muscle cells that scientists can use to study muscle development and disease and to screen drugs. The Center’s goal is to isolate stem cells from a total of 30 families afflicted with FSHD to distribute to Wellstone scientists and FSHD researchers worldwide. The Center’s stem cell lab, located at BRRI, has already isolated muscle stem cell strains from FSHD patients and unaffected individuals in 19 families for a total of 114 strains.  These cells are being actively studied by researchers at BBRI to identify the molecular mechanisms that underlie FSHD pathology, but are also available to researchers worldwide and cells have been distributed to labs across the United States, including academic institutions in Louisiana, Arizona, Texas, Maryland, and Washington DC, as well as to FSHD researchers in France and Italy.

To learn more about the Wellstone Center, please visit www.wellstone.bbri.org.