Administrative Core

Myotonic dystrophy (dystrophia myotonica, DM) is a dominantly inherited disease that is the most prevalent
adult-onset muscular dystrophy. However, congenital DM individuals are the most severely affected. While the
two types of DM are distinguished by the affected gene (DMPK in DM1, CNBP in DM2), both DM mutations are
tandem repeat expansions in noncoding regions. The mission of our Wellstone Center is to promote basic and
translational science that leads to safe and effective therapies for DM1 and DM2. An integral component of this
mission is our Administrative Core which oversees funding, compliance with federal and state regulations and
communication between our multi-campus personnel. The Administrative Core also coordinates, facilitates, and
monitors synergistic interactions between our Projects and Cores, basic science and clinical collaborators, as well
as patients, their families and advocacy groups. Additionally, we will continue to provide oversight to assure all
regulatory guidelines, privacy, and safety precautions are followed to recruit and enroll human subjects in the
proposed projects. To achieve these goals, Aim 1 is to continue the current Leadership of two principal
investigators at the Universities of Florida and Rochester who have successfully collaborated for over two
decades. These interactions have led to many notable accomplishments that have moved the DM field forward.
The only Leadership change is that the Director and Co-Director will switch positions so the host institution will
become the University of Florida, but the highly collaborative environment will remain as will the locations of
the Resource Core at the University of Rochester and the Training and Educational Core at the University of
Florida. Aim 1 also introduces a new Center Advisory Committee that will be composed of leading scientists with
expertise in short tandem repeat instability and disease, a biotechnology representative, and DM1 and DM2
patient advocates. Aim 2 will focus on managing and enhancing interactions between our Wellstone Projects,
Cores, and external collaborators to advance the utilization of our Shared Resource Core. Additional objectives
are to monitor adherence to our data and resource sharing plans that are designed to transmit new data and
promote collaborations with the larger DM1 and DM2 community of scientists, clinicians, and patients. Aim 3 is
to enhance the visibility of our Wellstone Center by increasing our research and educational outreach efforts to
inform stakeholders including researchers, patients, advocacy groups, and care providers through the use of a
new website, printed/electronic newsletters, social media, conferences, and videos that are designed to further
promote communication between investigators and patients about the diagnosis, clinical management and
research advances in DM1 and DM2. The Administrative Core will augment existing ties to the University of
Florida, the Myology Institute, Artificial Intelligence Academic Initiative Center, the Center for NeuroGenetics
and the University of Rochester Department of Neurology and the Clinical & Translational Science Institute and
use departmental resources at both campuses to facilitate the activities of our Wellstone Projects and Cores.