Scientific, Educational, and Administrative Cores
Repository and National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
The purpose of the Repository is to distribute research reagents and biological materials, including postmortem tissue samples, cell cultures, RNA samples, plasmids, antibodies, and transgenic mouse models. Maintaining a relatively easy flow of biological materials for basic researchers is crucial to maintain current research efforts, to recruit new investigators, and to stimulate additional collaborative and independent research.
The National Registry provides a mechanism to establish contact between people with myotonic dystrophy and FSHD and researchers. Its mission is to:
Facilitate the recruitment of patients into clinical trials;
Develop a robust dataset of anonymous patient reported information on disease manifestations;
Analyze these data related to the pathophysiology and clinical spectrum of disease manifestations in DM and FSHD.
Once enrolled, patients and family members remain in contact with Registry staff through newsletters, study letters or announcements, and completion of an annual update of their symptoms. Researchers use the Registry to establish contact with patients to facilitate recruitment into clinical studies or to access anonymous information from the large Registry database. More information for patients and investigators can be found at the National Registry website.
Training and Educational Core
Our Wellstone MDCRC Training & Educational Core has two major Specific Aims:
Aim 1) to develop and integrate a program of research training and career development in the field of muscular dystrophy that has the breadth and flexibility to meet the needs of new investigators who are committed to careers in clinical and translational science, and who require additional knowledge and skills to contribute to multidisciplinary research teams.
Aim 2) to develop educational materials and activities for patients, family members, advocacy groups, care providers, and researchers that provide readily useable resources of current information about the adult muscular dystrophies, specifically the myotonic dystrophies (myotonic dystrophy type 1 & type 2); and, to enhance the interaction of patients, family members, and their advocacy groups with care providers and researchers to identify more effective treatments for myotonic dystrophy and to develop an approach for establishing standards of care for the major disease manifestations.
Leadership and staff coordinate and integrate the components and activities as well as the utilization of funds of the 2 scientific projects, the Scientific Core and the Training & Educational Core that comprise our Wellstone Center. The Administrative Core gains vitality and effectiveness from the experience of its members, who have performed these responsibilities over the past five years of our previously funded URMC Wellstone MDCRC.