Moxley, a Pioneer in Muscular Dystrophy Research and Care, to Step Down

“Over his 40 plus years at the Medical Center, Dick has been a central figure in making the Department of Neurology a magnet for patients and a national leader in research and education,” said Mark Taubman, M.D., CEO of URMC.  “His legacy, particularly in the field of neuromuscular diseases, will leave a mark not only on this institution, but on the countless patients and families for whom he provided care and partnered with to advance our knowledge of these diseases.”

“Dick’s contributions as a clinician, scientist, and a mentor have transformed the way we care for patients with myotonic dystrophy,” said Bob Holloway, M.D., M.P.H., chair of the URMC Department of Neurology.  “His decades of unwavering focus on his patients and their quality of life have helped transform the disease into a manageable chronic illness and have set us on the path to a potential cure.” 

Moxley arrived at URMC in 1974, when he was recruited as a child neurologist by Robert Joynt, M.D. and Robert Griggs, M.D. to become director of the Strong Memorial Hospital EMG Laboratory and help start a National Institutes of Health (NIH)-funded research program on muscular dystrophy.  He is credited with helping lay the foundation for the Department’s research program, which now regularly ranks among the top 10 in the nation in funding from the National Institutes of Health.

Prior to arriving in Rochester, Moxley received his medical degree from the University of Pennsylvania and received his training at Harvard University, Johns Hopkins University, and NIH. 

Moxley’s clinical and research focus is neuromuscular diseases and upon his arrival in Rochester he helped start a Muscular Dystrophy Association-funded program that focused on Duchenne muscular dystrophy, a childhood disease found primarily in boys.  He was part of a research team that included Griggs and Shree Pandya, D.P.T., M.S., which first established prednisone as an effective treatment for the disease.

Moxley later turned his focus to myotonic muscular dystrophy (DM), the most common form of muscular dystrophy found in adults, and partnered with Charles Thornton, M.D., who arrived in Rochester in 1989 and in 1992 established a pre-clinical and clinical research program to study the disease.  Their research has been fundamental to our understanding of the biological mechanisms of DM and the complex nature in which the disease progresses and manifests itself in individual patients.   In 2002, Thornton, Moxley, and their colleagues were the first to discover how a genetic flaw in individuals with the disease interferes with important functions in muscle and other cells. 

Central to these efforts have been the National Registry for Myotonic Dystrophy and Facioscapulohumeral Dystrophy, which was established by Moxley, Thornton, Rabi Tawil, M.D., and their colleagues in 2000. This NIH-supported database, which now includes more than 2,200 people with these conditions, has been an invaluable research tool and has enabled researchers across the county to study the disease and recruit participants for clinical trials. 

The University is also home to one of six Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers.  Moxley serves as the principal investigator of the URMC center, which has received continuous federal funding since the program was established by NIH in 2003. 

Long before the term became fashionable, Moxley has been a passionate advocate of patient-centered care.  Because DM is a complex multi-system disease, there can often be a difference of opinion between which symptoms physicians think are important and those that patients believe have the greatest impact on their quality of life.  This can not only impact a patient’s care, but also the direction of research.  Moxley, in collaboration with Chad Heatwole, M.D. and others have helped develop tools that help physicians and researchers determine which symptoms are important to patients and how to meaningfully measure the effectiveness of new treatments. 

“Dick is the model of the clinician-scientists who has been driven by a tenacious focus to help his patients,” said Griggs.  “Working with patients and their families to understand what they feel is important and making them partners in our efforts to find better ways to treat this disease has been a guiding principal throughout his career.”  

These efforts have brought scientists to the threshold of a new therapy that could reverse the genetic cause of DM type 1. Partnering with Isis Pharmaceuticals, the Rochester team developed a synthetic molecule – called an antisense oligonucleotide – that mimics a segment of the genetic code.  In a study appearing in the journal Nature in 2012, the team showed that, when injected into mice with myotonic dystrophy, these molecules improved function.  Isis Pharmaceuticals has recently completed Phase 1 testing and will soon advance to testing in people with the disease.

“I met Mox nearly 30 years ago at the Medical Center when my daughter, Patty, was in the intensive care unit,” said University trustee E. Philip Saunders. “I became interested in the research he was doing on myotonic muscular dystrophy, decided to support it, and am amazed by what he and Charles Thornton have accomplished on their way to a cure. Most of all, I am proud to call him a close friend.”

In 1989, Saunders made an initial commitment to support Moxley's research. His additional, significant commitment in 2011 was directed to the Medical Center's research in neurological diseases, cancer, and translational medicine, and to establish two professorships in neuromuscular research. The Medical Center’s Saunders Building is named in his honor. 

Moxley will officially retire on July 1, 2017 but intends to continue to stay active in myotonic dystrophy research by advising the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the Myotonic Dystrophy Foundation, which recently honored Moxley and Thornton with their Outstanding Research Achievement Award. The Department of Neurology is planning a celebration of his career to be held in spring 2018.