Fields Center for FSHD & Neuromuscular Research

Scientific Projects

Current Fields Center projects are focusing efforts in the following areas:

Develop clinical practice guidelines for the care of individuals with FSHD. These practice guidelines will deal with issues such as genetic testing, physical therapy, exercise, bracing, scapular surgery and potential retinal and respiratory complications of FSHD. The guidelines will help standardize the care of patients with FSHD across the world.

Collect DNA and muscle biopsy samples from individuals with FSHD who are carefully evaluated to determine how the changes in the DNA influence the severity of the clinical symptoms and the changes observed on muscle biopsies.

The DNA samples collected from a large number of affected individuals will also serve to:

• Search for unusual large deletions that extend outside of the known D4Z4 repeat area which will help us better understand the genetic cause for FSHD.
• Search for unique patterns (DNA sequences) within the distal part of chromosome 4 that seem to be necessary for the development of FSHD.

The collected muscle biopsy samples will used for a number of experiments:

• Microscopic evaluation of stained muscle sections to determine the severity of the dystrophy in the sampled muscle.
• Examination, in frozen muscle samples, of how genes of interest and their corresponding proteins are expressed in muscle tissue.
• Establishing cell cultures of immature muscle cells (myoblasts). Since some researchers believe that FSHD is a developmental disease, these myoblasts will allow us to examine whether there are specific changes in gene and protein expression in immature muscle cells.

Investigate the possibility that problems in blood vessels may be contributing to the damage to skeletal muscle.

For more information, please contact the Fields Center FieldsCenter@urmc.rochester.edu