The last three years have brought remarkable progress in understanding the disease mechanisms in dominantly-inherited muscular dystrophies, myotonic dystrophy (DM), facioscapulohumeral dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD). A relatively complete pathophysiologic understanding of these disorders is within reach, and it seems likely that more attention will be devoted to developing new treatments. To maximally exploit these research opportunities it will be necessary to expand the base of basic and translational researchers who work on these disorders and give them access to critical biological and bioinformatic resources. To help accomplish this objective, the aim of this project is to develop a Repository Core for the University of Rochester Muscular Dystrophy Cooperative Research Center. The resources in the Repository have been built up over many years by investigators in this Center. These resources include DM and FSHD myoblasts, transgenic mouse models and cells derived from these models, plasmids for expressing expanded RNA repeats and for developing new models for repeat expansion disorders, antibodies, and tissue samples. In addition, a comprehensive database of expression profile data from normal individuals and patients with DM or FHSD will be provided to researchers interested in data mining or to serve as controls for studies of muscle gene expression that are performed at other institutions. Orderly procedures for requesting and delivering materials from the Repository are proposed. By helping to remove barriers to research, this Repository can improve the quality and quantity of research on dominantly-inherited muscular dystrophies, and stimulate the involvement of new investigators.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54NS048843-03
Application #
7554052
Study Section
Special Emphasis Panel (ZNS1)
Project Start
Project End
Budget Start
2005-06-01
Budget End
2006-05-31
Support Year
3
Fiscal Year
2005
Total Cost
$294,330
Indirect Cost
Name
University of Rochester
Department
Type
DUNS #
041294109
City
Rochester
State
NY
Country
United States
Zip Code
14627
Carrell, Samuel T; Tang, Zhenzhi; Mohr, Sabine et al. (2018) Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase. Nucleic Acids Res 46:e1
Trembley, Michael A; Quijada, Pearl; Agullo-Pascual, Esperanza et al. (2018) Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy. Circulation 138:1864-1878
Auerbach, David S; Biton, Yitschak; Polonsky, Bronislava et al. (2018) Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications. Transl Res 191:81-92.e7
Sznajder, ?ukasz J; Thomas, James D; Carrell, Ellie M et al. (2018) Intron retention induced by microsatellite expansions as a disease biomarker. Proc Natl Acad Sci U S A 115:4234-4239
Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne et al. (2018) Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis 13:155
Jauvin, Dominic; Chrétien, Jessina; Pandey, Sanjay K et al. (2017) Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice. Mol Ther Nucleic Acids 7:465-474
Skov, Martin; Dirksen, Robert T (2017) Trojan triplets: RNA-based pathomechanisms for muscle dysfunction in Huntington's disease. J Gen Physiol 149:49-53
Pinto, Belinda S; Saxena, Tanvi; Oliveira, Ruan et al. (2017) Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9. Mol Cell 68:479-490.e5
Thornton, Charles A; Wang, Eric; Carrell, Ellie M (2017) Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev 44:135-140
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

Showing the most recent 10 out of 88 publications