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.
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.
|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