Shared Resource Core

Leader: Johanna I. Hamel, M.D., University of Rochester

The Shared Resource Core is designed to sustain and enhance the resources of the oldest and most comprehensive Registry for patients with myotonic dystrophy type 1 (DM1), type 2 (DM2), and facioscapulohumeral muscular dystrophy (FSHD). The National Registry for DM and FSHD Patients and Family Members has facilitated research since the beginning of our combined University of Rochester and University of Florida Wellstone Center in 2003, with the same overarching goals to assist researchers in the recruitment of patients for clinical studies and trials, to develop an extensive database of longitudinal patient information, and to promote community outreach with patients, family members, clinicians, and researchers. Core Registry methods include patient-reported questionnaires and curated medical records, annual surveys to track disease progression, and researchers applying to access data or for assistance with recruitment. Our current goals are to help maintain two-way communication between researchers and patients, expand the Registry dataset and prepare for targeted recruitment based on clinical and genetic characteristics in DM1. Highlights of these goals include incorporating remote genetic and clinical characterization of Registry members with DM1, expand and diversify Registry engagement and prepare for comparative studies of long-term drug effects and promote research on understudied manifestations of DM and FSHD, which have important implications for quality of life. muscle involvement in DM and gastrointestinal and genitourinary assessments in FSHD. Overall, the Shared Resource Core will serve the needs of researchers in our Center, the larger community of investigators who study autosomal dominant forms of muscular dystrophy, and the patients and families living with these disorders.