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
Skov, Martin; Dirksen, Robert T (2017) Trojan triplets: RNA-based pathomechanisms for muscle dysfunction in Huntington's disease. J Gen Physiol 149:49-53
Gadalla, S M; Hilbert, J E; Martens, W B et al. (2017) Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy. Eur J Neurol 24:713-718
Thornton, Charles A; Wang, Eric; Carrell, Ellie M (2017) Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev 44:135-140
Wagner, Stacey D; Struck, Adam J; Gupta, Riti et al. (2016) Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy. PLoS Genet 12:e1006316
Heatwole, Chad; Bode, Rita; Johnson, Nicholas E et al. (2016) Myotonic dystrophy health index: Correlations with clinical tests and patient function. Muscle Nerve 53:183-90
Fitzgerald, Bryan P; Conn, Kelly M; Smith, Joanne et al. (2016) Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy. J Neurol 263:2528-2537
Gloss, David; Moxley 3rd, Richard T; Ashwal, Stephen et al. (2016) Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology 86:465-72
Carrell, Samuel T; Carrell, Ellie M; Auerbach, David et al. (2016) Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice. Hum Mol Genet 25:4328-4338
Slean, Meghan M; Panigrahi, Gagan B; Castel, Arturo López et al. (2016) Absence of MutS? leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks. DNA Repair (Amst) 42:107-18
Auerbach, David S; McNitt, Scott; Gross, Robert A et al. (2016) Genetic biomarkers for the risk of seizures in long QT syndrome. Neurology 87:1660-1668

Showing the most recent 10 out of 80 publications