Email this pageFields Center for FSHD & Neuromuscular Research
Meet the Principal Investigators
Rabi Tawil, MD. Professor of Neurology
Director of the Fields Center
Dr. Tawil is a clinician-researcher with long standing involvement
in FSHD research. His FSHD research has included an extensive natural
history study, studies correlating the genetic defect and the clinical
severity, and the first controlled therapeutic trials in this condition.
More recently, his expression study, done in collaboration with
Dr. Thornton, raised the possibility of vascular abnormalities
in FSHD muscle. He has organized and chaired several international
FSHD meetings and has served on the FSH Society scientific advisory
board for ten years. He is also a Co-Investigator for the National
Registry of Myotonic Dystrophy and FSHD Patients and Family Members,
instituted to link patients with investigators to facilitate research
into these diseases.
You may reach Dr. Tawil at: Rabi_Tawil@urmc.rochester.edu
Charles Thornton, MD. Professor of Neurology
Co-Principal Investigator of the Fields Center
The Fields Center is fortunate to have the support of Dr. Thornton, a respected scientist whose research was instrumental in the discovery of the cellular and molecular pathophysiology of myotonic dystrophy. He has collaborated with Dr. Tawil for over five years, providing microarray analyses and control group samples for molecular biology experiments. Dr. Thornton is also a Co-PI for the National Registry of Myotonic Dystrophy and FSHD Patients and Family Members, and is a highly sought after speaker and educator. In addition to maintaining a clinical practice, he conducts rigorous bench research as well as clinical trials.
Dr. Thornton can be reached at: Charles_Thornton@urmc.rochester.edu
Silvere van der Maarel, PhD. Professor of Medical Epigenetics
Co-Director of the Fields Center
Dr. van der Maarel is the world’s leading authority on the genomic aspects of FSHD. His lab was instrumental in the discovery of the FSHD genetic defect in 1992. Under his leadership, the Leiden laboratory has made several important observations including the discovery of the A and B variants on 4q35 which has important implications both for the accuracy of genetic testing as well as the underlying molecular mechanism. His team has also confirmed the occurrence of large proximal deletions in FSHD, and the occurrence of FSHD in patients without D4Z4 deletions but with focal changes in DNA methylation. He has recently outlined evidence for the function of FRG1, a candidate gene in FSHD. Dr. van der Maarel and his team will provide state of the art molecular analyses of subject DNA samples to better characterize patients with the disease as well as to look at changes at the RNA and protein levels in both biopsy and immature muscle cell cultures. Dr. van der Maarel has also organized and chaired numerous international symposia on FSHD and has worked in with lay organizations in the United states and The Netherlands.
You can reach Dr. van der Maarel at: S.M.Maarel@lumc.nl