Meet the Principal Investigators
Rabi Tawil, MD. Professor of Neurology, University of Rochester Medical Center, Director of the Fields Center
Dr. Tawil is a clinician-researcher with long standing involvement in FSHD (FSHD dystrophy) 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. 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 FSHD Patients and Family Members, based at the University of Rochester, instituted to link patients with investigators to facilitate research into these diseases. Dr. Tawil’s recent work helped establish FSHD2 as a separate but converging disease entity. Additionally, he has spearheaded workshops to establish standards of care in FSHD as well as to establish the necessary tools for FSHD clinical trials. With the crucial help of the FSHD patient community, Dr. Tawil has established the largest FSHD bio-repository in the world. This repository of well-characterized biological samples were essential in facilitating the recent molecular discoveries by Drs. van der Maarel, Tapscott and Tawil.
You can reach Dr. Tawil at: Rabi_Tawil@urmc.rochester.edu
Silvere van der Maarel, PhD. Professor of Medical Genetics Leiden University Medical Center , 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 (FSHD2). His group was instrumental in defining the unifying hypothesis for FSHD and more recently for discovering the gene defect responsible for the vast majority of patients with FSHD2 (SMCHD1 gene). Dr. van der Maarel has also organized and chaired numerous international symposia on FSHD and has worked with lay organizations in the United states and The Netherlands.
You can reach Dr. van der Maarel at: S.M.Maarel@lumc.nl
Stephen Tapscott, MD, PhD, Professor of Neurology, University of Washington and Research Scientist, Fred Hutchinson Cancer Research Center, Fields Center Principal Investigator
Dr. Stephen Tapscott has a long standing research interest in the molecular processes responsible for skeletal muscle development and the regulation of gene expression and chromatin remodeling in normal development and disease. His research interests extend to genetically determined diseases of muscle including the molecular mechanisms underlying myotonic muscular dystrophy and the development of stem cell and gene-based therapies for Duchenne muscular dystrophy. Dr. Tapscott’s laboratory was instrumental in discovering that FSHD is the result of reactivation of the DUX4 gene, a central component of the unifying hypothesis of FSHD pathophysiology. DUX4 is a protein that regulates the transcription of other genes and is normally repressed in muscle cells through the mechanism of repeat-mediated epigenetic repression, whereas this repression is inefficient in FSHD muscle and small amounts of the DUX4 protein are mis-expressed to cause the disease. His group subsequently showed that changes in FSHD cells could be largely accounted for by DUX4 induced gene activation.
You can reach Dr. Tapscott at firstname.lastname@example.org.