Advancing translational research in the muscular dystrophies remains filled with obstacles and potential setbacks, yet promising experimental therapies are only a few years away. These realities highlight the urgency to better educate patients, families, advocates, and care providers about the promising activities ahead. Enhanced resources are needed, at all levels of training and areas of patient interaction, to guide better understanding of disease manifestations, analyze current treatments, and expedite the implementation of experimental therapies. Our Wellstone Center Training &Educational Core has two major Specific Aims:
Aim 1 is 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. To achieve this aim we offer 12- month training for pre- and post-doctoral fellows. The training program is enhance by resources within our and other Wellstone Centers and through synergy with our Neuromuscular Disease Center and our University Clinical &Translational Sciences Institute. Fellows will also benefit from direct interaction with patients in the clinical studies of Project 1 of this Wellstone Center renewal application.
Aim 2 is to develop educational materials and activities for patients, family members, advocacy groups, care providers, and researchers that provide readily usable resources of current information about the adult muscular dystrophies, specifically the myotonic dystrophies (DM). To achieve this aim, we will continue to send informative and creative newsletters to patients to keep them abreast of exciting research and clinical advances in DM, develop and host a 2nd Annual DM Patient Conference at the University of Rochester, devote time for personal "question and answer" sessions with each patient enrolled in our clinical studies, and work with patient advocates and medical associations to develop to develop better guidelines for the clinical management of DM and provide updates on promising experimental treatments.

Public Health Relevance

Advances in muscular dystrophy research and clinical care are continuously changing. Education about myotonic dystrophy requires preparing clinical researchers to develop new therapies, along with fostering interactions between patients, advocates, researchers, and care providers. Our activities aim to open these lines of communication in order to improve patient well-being and to help make new treatments a reality.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
2U54NS048843-11
Application #
8604201
Study Section
Special Emphasis Panel (ZNS1-SRB-S (57))
Project Start
Project End
Budget Start
2013-09-15
Budget End
2014-08-31
Support Year
11
Fiscal Year
2013
Total Cost
$138,884
Indirect Cost
$48,406
Name
University of Rochester
Department
Type
DUNS #
041294109
City
Rochester
State
NY
Country
United States
Zip Code
14627
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Wojtkowiak-Szlachcic, Agnieszka; Taylor, Katarzyna; Stepniak-Konieczna, Ewa et al. (2015) Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy. Nucleic Acids Res 43:3318-31
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