First muscle biopsies arrive at the NIH BBRI Senator Paul Wellstone FSHD Center in Massachusetts!

Four families have been seen to date by Dr. Kathryn Wagner and muscle biopsies and materials are arriving and quickly being put into research.  Dr. Wagner initially sends the tissues to Massachusetts and Baltimore. 

In Watertown, Massachusetts, Dr. Jennifer Chen processes muscle stem cells from muscle tissue obtained from the FSHD patient and family member who volunteer to provide muscle samples, in the research core facility in Watertown, Massachusetts.  Dr. Chen is a Wellstone investigator at Boston Biomedical Research Institute (BBRI).  These cell lines are then distributed to Louis Kunkel, Children’s Hospital, Boston, and to Woodring Wright, University of Texas Southwestern who immortalizes them for telomere studies.  In Baltimore, Maryland, Dr Robert Bloch, process the muscle tissue received from Dr. Wagner for patho-physiological studies.   The MD CRC is operational and able to look at many aspects of the tissues quite rapidly.

The tissue bank at the NIH BBRI Senator Paul Wellstone Muscular Dystrophy Cooperative Research Center will store muscle cells from pairs of individuals, called a cohort.  Each cohort contains biopsies from two different places (shoulder and upper arm) from a person affected with FSHD, and two different biopsies from the same matched places from a close genetically related relative (usually a sibling or parent).  Two sets of matched pairs are acquired, four biopsies in total.  

Muscle cells isolated from each biopsy can be reproduced many times over, providing material for experiments performed by multiple research labs.  The tissue cells remain paired throughout the studies, FSHD-affected individual with the relative, so that familial and genetic differences can be observed.

Muscle tissue cells are needed by investigators around the world in their search for treatments and cures for FSHD.  For example, a researcher takes a first step in experimenting with potential treatments by testing them on FSHD muscle cells growing in a dish. Promising treatments and drug compounds are then investigated in animal models. If the experiments support further development, the drug compound might go to a clinical trial including persons affected with FSHD.

The tissue bank hopes to receive muscle biopsy material from fifteen cohorts -- fifteen FSHD-affected individuals and fifteen relatives -- each year.