The overall goal of Core C is to provide support for the research training and education mission of the MDCRC. In particular, Core C will support a Medical Student Fellowship, a Postdoctoral Fellowship and a two-day symposium to educate/engage patients and patient advocates. Both the medical student and postdoctoral fellow will have mentoring from the two core directors. This training effort is vital, so that there are basic scientists and qualified clinicians who can partner to test novel potential treatments. We are particularly interested in training the next generation of neurologists in muscular dystrophy translational research and thus have created the Medical Student Fellowship. This full-time fellowship will enable one medical student per year to be involved in all aspects of research in the MDCRC. The student will participate in the care of patients in the muscular dystrophy clinic and in the evaluation of patients participating in Project 2 under the supervision of Katherine Mathews. They will evaluate muscle biopsies with Steve Moore and study patient cells in Kevin Campbell's lab. Finally, they will present their findings from interesting cases at the Muscle Disease Neuropathology Conference once a month. To promote the development of basic scientists doing translational research in muscular dystrophy, the Postdoctoral Research Fellowship will provide an intensive translational research experience in the MDCRC for a PhD, MD or MD/PhD graduate in Kevin Campbell's laboratory. This research fellow will also observe patient care in the clinic and research settings to enhance their understanding of the clinical side of translational research. Finally, the lowa MDCRC will continue its tradition of involving patients and patient advocates in the center. Core C will host a two day symposium and Center open house with patients and their families. The goal of the symposium will be to educate the patients about the ongoing translational research in the MDCRC and provide a forum where their questions concerning translational research can be answered. The Medical Student and Postdoctoral Research fellows will participate in this symposium. Thus, this core will accelerate the education mission of the MDCRC and establish a training environment for clinician scientists.
Core C will coordinate the research training and education mission of the MDCRC. We are particularly interested in training the next generation of pediatric neurologists and thus have created a fellowship that will attract medical students interested in neurology. This fellowship will enable one medical student per year to perform translational research in the Center and to participate in the care of muscular dystrophy patients.
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|Brun, Brianna N; Mockler, Shelley R H; Laubscher, Katie M et al. (2017) Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology 88:623-629|
|Brun, Brianna N; Mockler, Shelley R H; Laubscher, Katie M et al. (2017) Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. J Child Neurol 32:204-209|
|Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A et al. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49:238-248|
|Rader, Erik P; Turk, Rolf; Willer, Tobias et al. (2016) Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle. Proc Natl Acad Sci U S A 113:10992-7|
|Praissman, Jeremy L; Willer, Tobias; Sheikh, M Osman et al. (2016) The functional O-mannose glycan on ?-dystroglycan contains a phospho-ribitol primed for matriglycan addition. Elife 5:|
|Turk, Rolf; Hsiao, Jordy J; Smits, Melinda M et al. (2016) Molecular Signatures of Membrane Protein Complexes Underlying Muscular Dystrophy. Mol Cell Proteomics 15:2169-85|
|de Greef, Jessica C; Hamlyn, Rebecca; Jensen, Braden S et al. (2016) Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the ?-sarcoglycan-null mouse. Hum Mol Genet 25:1357-69|
|Inamori, Kei-Ichiro; Beedle, Aaron M; de Bernabé, Daniel Beltrán-Valero et al. (2016) LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans. Glycobiology 26:1284-1296|
|Jerber, Julie; Zaki, Maha S; Al-Aama, Jumana Y et al. (2016) Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet 99:1181-1189|
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