Duchenne Muscular Dystrophy Clinic
Duchenne Muscular Dystrophy Clinic
The UR Duchenne Muscular Dystrophy Clinic mission is to provide evidence based multidisciplinary clinical care that comply with standards in clinical care established by the Centers for Diseases Control and Prevention to patients with Duchenne and Becker Muscular Dystrophy (DBMD) Our goal is to make a positive impact on the quality of life of children, adolescents and adults affected by DBMD by providing a team of experts in all specialties needed to best care for DBMD, a friendly and supportive atmosphere, and coordinated care that is highly accessible for families. We focus on all aspects of disease including a timely diagnosis with genetic confirmation, genetic and family counseling, prevention and management of secondary symptoms and complications, including cardiac, respiratory, behavioral, endocrine and bone health, access to clinical trials, and coordination of care with schools and other providers.
Welcome from the Director
Welcome to the University of Rochester Duchenne Clinic. Our mission is to provide cutting edge, patient-centered, multidisciplinary care of the highest quality to patients of all ages leaving with Duchenne dystrophy; to conduct innovative basic and translational research and provide access to cutting edge clinical trials; to provide timely and coordinated access to newly approved drugs for Duchenne, including gene therapy and gene-based drugs. We serve our community and welcome patients from other regions and are willing to work with our patient’s local physicians. Our team has decades of experience in caring for Duchenne patients and their families and includes expert neuromuscular neurologists, genetic counselors, nurses and nurse practitioners, physical therapists, pediatric and adult cardiologists and pulmonologists, and palliative care physicians. We have a longstanding partnership with the Muscular Dystrophy Association (MDA) and Parents Project Muscular Dystrophy (PPMD). We welcome you to browse our website to learn more about our clinical programs and our research enterprise.
Emma Ciafaloni, M.D., FAAN, FANA, Director
Gene Therapy for Duchenne Muscular Dystrophy: Teddy's Story
Teddy's journey through experimental gene therapy for Duchenne: Dr. Emma Ciafaloni, Director of the Duchenne Clinic, and Principal Investigator for the trial, explains how gene therapy works and talks about the Department of Neurology longstanding commitment to find new treatments for Duchenne.