Skip to main content
Explore URMC

URMC Logo

URMC / Fields Center / Scientific Projects

Scientific Projects

Current Fields Center projects are focused on the following areas of FSHD (FSH dystrophy) research:

Clinical Research

  • Clinical Care: 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. Guidelines for clinical care and genetic testing based on workshops sponsored by the Fields Center in 2010 have been published. More recently Dr. Tawil is leading the development of FSHD guidelines through the American Academy of Neurology.
  • Clinical Trials Readiness: Develop consensus on the best outcome measures for future FSHD clinical trials. The Center investigators have lead a workshop in Leiden in 2013 to outline the necessary steps for clinical trial preparedness in FSHD. .As part of this effort, investigators are developing a disease-specific, patient-determined outcome measure as well as functional outcome measures. Biomarkers as also being investigated including MRI, electrical impedance myography as well as serum and tissue biomarkers. Center investigators are also involved in the NIH Common Data Element (CDE) initiative in FSHD.
  • Development of Biological Resources: Access to well characterized biological resources is essential in understanding the mechanisms underlying FSHD type 1 and type 2 as well as in understanding how changes in tissue and blood correlate with the clinical manifestation of the disease.. Tissue resources generated include serum, muscle biopsy samples, myoblasts cell lines, fibroblast cell lines as well as the creation of immortalized myoblasts.

Basic and Translational Research

  • Understanding the triggers and consequences of DUX4 expression: In 2010, Fields Center investigators discovered that contraction of the repeat DNA elements on chromosome 4, which occurs in 95% of individuals with FSHD, leads to the inappropriate expression of the toxic gene DUX4. In 2012, the same investigators identified a gene, SMCHD1, a mutation in which also causes the inappropriate expression of DUX4 by loosening the bound DNA in that same region of chromosome 4. Understanding what causes this change in the DNA structure and how DUX4 inappropriately expressed in muscle results in muscle damage and weakness is essential in developing treatment to counter the effects of the DUX4 protein.
  • Finding ways to block DUX4 production or to block the downstream effects of DUX4: With the discovery of a unifying cause for FSHD, the Fields Center investigators now have therapeutic targets for the development of treatments for FSHD. Different approaches are being investigated including directly blocking the production of the DUX4 at the DNA level, changing the structure of the DNA, and blocking pathways triggered by DUX4 that result in muscle damage.

Scientific Publications

The following is a list of Scientific publications of studies performed by the Fields Center investigators.