Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) have multisystem complications that are serious, progressive, and often disabling. Recent advances in understanding the mechanisms of DM have guided the development of experimental therapies that have reversed manifestations in mouse models of DM type 1 (DM1). There is now renewed urgency to enhance the translational resources needed to bring treatments into clinical trials. To help achieve these goals, we propose to enhance the resources of our current National Registry of DM and FSHD Patients and Family Members and Repository within our Wellstone Scientific Core. The goals of our National Registry are to develop an extensive database of de-identified patient information;assist researchers in the recruitment of patients into clinical studies;and promote community outreach with care providers, researchers, patients,- and family members to discuss disease manifestations. Select strengths of the Registry include;stringent review of clinical and genetic medical records;ability to tailor recruitment based on common inclusion and exclusion criteria;and annually updated information. Our National Registry has currently enrolled over 1,900 patients. Within the past four years, we have facilitated 19 research studies, led by 15 different investigators at 11 sites, including key recruitment of patients into our Wellstone clinical studies. The Repository includes transgenic mouse models, cells derived from these models, and human tissue samples. We have existing methods to collect, store, and distribute these materials. Over 20 investigators, within and outside our Wellstone Center, have used Repository resources the past Our Scientific Core will be vital in the renewal plans of our Wellstone Center to facilitate recruitment of patients and collection of biomaterials within our newly established DM Clinical Research Network. By helping to remove barriers to research, our Scientific Core will improve the quality and quantity of research on DM and stimulate participation of new investigators, patients, family members, and care providers.

Public Health Relevance

Providing researchers with easy access to biological materials (e.g., mouse models and muscle tissues) and connecting patients with researcher are vitally important to move research forward. Our Scientific Core will provide safe, confidential, and open access to materials and interact with patients, with a common goal to guide research and to develop clinical guidelines and new therapies.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center--Cooperative Agreements (U54)
Project #
Application #
Study Section
Special Emphasis Panel (ZNS1-SRB-S)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Rochester
United States
Zip Code
Hoskins, Jason W; Ofori, Leslie O; Chen, Catherine Z et al. (2014) Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects. Nucleic Acids Res 42:6591-602
Thornton, Charles A (2014) Myotonic dystrophy. Neurol Clin 32:705-19, viii
Statland, Jeffrey M; Tawil, Rabi (2014) Risk of functional impairment in Facioscapulohumeral muscular dystrophy. Muscle Nerve 49:520-7
Batra, Ranjan; Charizanis, Konstantinos; Manchanda, Mini et al. (2014) Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease. Mol Cell 56:311-22
Heatwole, Chad; Bode, Rita; Johnson, Nicholas et al. (2014) Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure. Muscle Nerve 49:906-14
Rzuczek, Suzanne G; Gao, Yu; Tang, Zhen-Zhi et al. (2013) Features of modularly assembled compounds that impart bioactivity against an RNA target. ACS Chem Biol 8:2312-21
Hilbert, James E; Ashizawa, Tetsuo; Day, John W et al. (2013) Diagnostic odyssey of patients with myotonic dystrophy. J Neurol 260:2497-504
Childs-Disney, Jessica L; Stepniak-Konieczna, Ewa; Tran, Tuan et al. (2013) Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. Nat Commun 4:2044
Kalman, Lisa; Tarleton, Jack; Hitch, Monica et al. (2013) Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. J Mol Diagn 15:518-25
Coonrod, Leslie A; Nakamori, Masayuki; Wang, Wenli et al. (2013) Reducing levels of toxic RNA with small molecules. ACS Chem Biol 8:2528-37

Showing the most recent 10 out of 56 publications