Our Staff

The National Registry is housed at the University of Rochester’s Department of Neurology, a Center of Excellence in muscular dystrophy research.

The University of Rochester team has helped lead research in myotonic dystrophy (DM) and FSHD for the past several decades to better understand the causes of each disease, to develop new therapies, and to help improve clinical care in partnership with patients, family members, and other researchers.

The National Registry Team

Leadership

• Johanna Hamel, MD, Principal Investigator
• Charles Thornton, MD, Co-Investigator
• Michael McDermott, PhD, Biostatistician

Team

• Bill Martens, Data Manager
• Rhonda Platten, Senior Clinical Research Data Specialist
• James Hilbert, MS, Research Coordinator
• Elizabeth Luebbe, MS, Research Coordinator

Founders and Former Principal Investigators

• Richard Moxley, III, MD, Professor Emeritus; Principal Investigator of Registry from September 2000 to June 2017
• Rabi Tawil, MD, Professor Emeritus Dept of Neurology URMC; Principal Investigator of Registry from June 2017 to September 2024

Scientific Advisory Committee

The Registry's Scientific Advisory Committee includes scientists and researchers across the United States and Canada, who were instrumental in developing the Registry. This expert panel provides ongoing support in reviewing research applications submitted to use the Registry, reviews and develops standard operating procedures, and facilitates the development of presentations and manuscripts.

• Tetsuo Ashizawa, MD; Emeritus Professor of Neurology, Houston Methodist
• Richard Barohn, MD, University of Missouri
• Paula Clemens, MD, University of Pittsburgh
• Michael Conneally, PhD, Indiana University, Advisor: 2000-2005
• John Day, MD, Stanford University
• Denise Figlewicz, PhD, retired, Wayne State University
• Jacqueline M. Jackson, Indiana University, Advisor: 2000-2010
• John Kissel, MD, retired, Ohio State University
• In Memoriam, Shannon Lord (1946-2013), Hunter Fund
• Katherine Mathews, MD, University of Iowa
• Don Sanders, MD, Duke University
• Stephen Tapscott, MD, PhD, University of Washington