Page 2 - Neuromuscular | UR Medicine

Leading the World in Treatments

Patients around the world come to the University of Rochester
Medical Center for neuromuscular care. UR Medicine physicians
and scientists are making groundbreaking advances in the way we
understand neuromuscular diseases, and continue to lead worldwide
efforts to develop targeted therapies.

In 2001, the National Institutes of Health (NIH) named the

University of Rochester home to a first-of-its-kind registry of patients
who have been diagnosed with the two most common types of adult
muscular dystrophy. Led by Richard T. Moxley, III, M.D., registry
patients and researchers have been teaming up to make incredible
new discoveries. One of our studies indicates that a medication
commonly used to treat cardiac arrhythmias also relieves the
symptoms of myotonic dystrophy—an inherited disorder that is
marked by progressive muscle weakness and stiffness—without side effects, leading to less pain and stiffness for
many patients.

Even more exciting, Charles A. Thornton, M.D., and his colleagues are moving steadily ahead on a therapy that
has reversed the symptoms of myotonic dystrophy altogether in pre-clinical trials. The NIH awarded him a $4
million grant to test his work with patients. This research could fundamentally alter the disease.

The Saunders Research Building—a facility completely dedicated to clinical and translational research—is home
to dedicated researchers and scientists working side-by-side to turn medical innovations into better treatments
and cures more rapidly for patients.

We are deeply grateful for donor support that has allowed our work to continue uninterrupted, and has resulted
in great strides in our research. This generosity has enabled us to hire world class caregivers and investigators,

and has ignited the possibility of new first-in-class treatments and therapies for complex neuromuscular diseases
that affect millions of people. But we still have much work ahead of us. We won’t stop our quest to beat these
terrible diseases.

With your help, we can make even more progress in unlocking the mysteries of neuromuscular diseases. We
invite you to join us as we blaze the path for a healthier future.

Best Regards,

Robert G. Holloway, M.D., M.P.H.
Edward A. and Alma Vollertsen Rykenboer
Chair in Neurophysiology
Chair, Department of Neurology
Professor of Neurology and Public Health Sciences

On the cover: Charles A. Thornton, M.D., the Saunders Family Distinguished Professor in Neuromuscular Research and world-renowned
neuromuscular clinician and researcher.