The myotonic dystrophies (DM) are the most common group of adult muscular dystrophies. The core characteristics of myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inheritance, myotonia, cataracts, muscle weakness, and multi-system manifestations that are often severe and disabling. Rapid advancements are occurring in regard to new technology for communicating with patients, new information about disease progression and biomarkers of severity, along with new approaches to therapy. Several new initiatives have been proposed to maintain and enhance our Administrative Core to help meet these needs and leverage support amongst our Projects and Cores, collaborators, and moreover, patients and their families. The mission of our Wellstone Center is to promote translational research that leads to transformative treatments for DM1 and DM2. The main goals of the Administrative Core of our Wellstone Center are to coordinate and oversee funding, regulations, and communication amongst and between all stakeholders currently supporting and collaborating with us (advocacy groups, foundations, pharmaceutical companies, academia, NIH, and patients). Specifically, Aim 1 is designed to maintain leadership and manage funds, infrastructure, and reporting of activities in our proposed Wellstone Center. Leadership is centralized on principal investigators at the University of Rochester and University of Florida, who have collaborated for 20 years and made significant accomplishments in the DM field. We will use the necessary tools of communication and schedule meetings to receive guidance of our external Center Advisory Committee, which consists of leaders in translational science, clinical care, and patient advocacy. In addition, we will provide oversight to assure all regulatory guidelines, privacy, and safety precautions are followed to recruit and enroll human subjects in proposed projects.
Aim 2 is designed to maintain the synergy with our Wellstone Cores, Projects, and outside collaborators, in order to promote the use of the Shared Scientific Resource Core. We will oversee data and resource sharing plans from resources collected within our Wellstone Projects and the Scientific Core, in order to share information and collaborate with the broad community of physicians and patients interested in the pathophysiology and treatment of DM.
Aim 3 seeks to develop educational outreach with patients, advocacy groups, care providers, and researchers. We will build upon existing resources (printed and electronic newsletters, social media, conferences, and videos) to enhance ?two-way? communication between investigators and patients about the diagnosis, clinical management, and research related to DM. In addition, the Administrative Core will bring together the robust assets that are available within the Medical Center, such as, our Clinical & Translational Sciences Institute and our Departmental resources, to facilitate the activities of our Wellstone projects and cores ? each driven by short and long term goals to improve the care and well-being of patients with DM1 and DM2.
| Sznajder, ?ukasz J; Thomas, James D; Carrell, Ellie M et al. (2018) Intron retention induced by microsatellite expansions as a disease biomarker. Proc Natl Acad Sci U S A 115:4234-4239 |
| Pinto, Belinda S; Saxena, Tanvi; Oliveira, Ruan et al. (2017) Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9. Mol Cell 68:479-490.e5 |
