FSHD Research Center at UR Medicine

The FSHD Research Center represents the first concerted international effort to accelerate aggressive and innovative clinical and genetic research to find treatments for people with facioscapulohumeral muscular dystrophy, also known as FSH dystrophy or FSHD. The FSHD Research Center is a “Center Without Walls,” advancing the synergistic efforts of two of the world’s leading institutions in the area of neuromuscular disease research, the University of Rochester Medical Center’s Neuromuscular Disease Center and Leiden University Medical Center’s Department of Human Genetics initiated the Center. Soon thereafter, The  Fred Hutchinson Cancer Research Center became an integral part of the FSHD Center, bringing in vital expertise in skeletal muscle development.

Through this dynamic partnership between clinical researchers and basic scientists, FSHD Center researchers have made groundbreaking advances in understanding the molecular mechanisms in FSHD describing the unifying hypothesis for FSHD in 2010.  This discovery, identifying a target for therapeutic intervention, has shifted the focus in FSHD research toward the translation phase with potential therapy now on the horizon. In addition, the Center has been a driving force in establishing FSHD care standards, standards in genetic testing as well as in laying the groundwork for future clinical trials in FSHD. In 2016, Dr. Tawil and Dr. Jeffrey Statland, the FSHD principal investigator at Kansas University Medical Center, obtained NIH funding to start the FSHD Clinical Trial Research Network. In 2025, this Network has grown to encompass 28 international sites that increases access for FSHD patients around the world to participate in research. The Network has conducted the largest FSHD natural history studies, which have been essential to the planning and implementation of current and future FSHD clinical trials.