The Muscle Genomics/Bioinformatics Core is designed to enable muscle researchers to access state of the art genomic tools and use sophisticated data processing tools within the core. The core will be available to inestigators to provide advice and guidance on the use of microarray and massively parallel sequencing tools for genomic assessment. The core will provide high density genome wide SNP analysis for genome-wide association studies on large datasets and linkage analysis within small families. Second the core provides genome wide assessment of RNA abundance. Third the core provides genome -scale assessment of alternative splicing. Fourth, the core provides analytical support for the.process of microarray gene expression data, microarray based SNP data, and massively parallel sequencing data.
The Aims of the Core are Aim 1: To enable researchers to perform gene expression analysis, alternative splicing analysis, copy number analysis, mutation analysis, SNP analysis and methylation analysis on a genome scale;
Aim 2 : To provide analytical advice and guidance;
Aim 3 : To provide researchers access to large microarray datasets and training in genomic analysis. This core facility will be a valuable resource to Center Investigators as well as to the greater dystrophy community by facilitating rapid genomic analyses. This Core is integral to the overall functioning of the Center.

Public Health Relevance

This core facility will be a valuable resource to Center Investigators as well as to the greater dystrophy community by facilitating genomic analysis of muscle tissues/cell lines. These studies augment specific cell biology experimentation ongoing by Center members

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Center Core Grants (P30)
Project #
5P30AR057230-05
Application #
8459891
Study Section
Special Emphasis Panel (ZAR1-CHW-G)
Project Start
Project End
Budget Start
2013-04-01
Budget End
2014-03-31
Support Year
5
Fiscal Year
2013
Total Cost
$185,006
Indirect Cost
$68,371
Name
University of California Los Angeles
Department
Type
DUNS #
092530369
City
Los Angeles
State
CA
Country
United States
Zip Code
90095
Villalta, S Armando; Rosenthal, Wendy; Martinez, Leonel et al. (2014) Regulatory T cells suppress muscle inflammation and injury in muscular dystrophy. Sci Transl Med 6:258ra142
Ermolova, N V; Martinez, L; Vetrone, S A et al. (2014) Long-term administration of the TNF blocking drug Remicade (cV1q) to mdx mice reduces skeletal and cardiac muscle fibrosis, but negatively impacts cardiac function. Neuromuscul Disord 24:583-95
Swaggart, Kayleigh A; Demonbreun, Alexis R; Vo, Andy H et al. (2014) Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. Proc Natl Acad Sci U S A 111:6004-9
Nelson, Michael D; Rader, Florian; Tang, Xiu et al. (2014) PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy. Neurology 82:2085-91
Lee, Hane; Deignan, Joshua L; Dorrani, Naghmeh et al. (2014) Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312:1880-7
Sareen, Dhruv; O'Rourke, Jacqueline G; Meera, Pratap et al. (2013) Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 5:208ra149
Rudnik-Schoneborn, Sabine; Senderek, Jan; Jen, Joanna C et al. (2013) Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology 80:438-46
Marshall, Jamie L; Kwok, Yukwah; McMorran, Brian J et al. (2013) The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy. FEBS J 280:4210-29
Wan, Jijun; Yourshaw, Michael; Mamsa, Hafsa et al. (2012) Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet 44:704-8
Kudryashova, Elena; Kramerova, Irina; Spencer, Melissa J (2012) Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H. J Clin Invest 122:1764-76

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