The Bioinformatics/Genomics Core is designed to enable muscle researchers to access state ofthe art genomic tools and use sophisticated data processing tools within the Core. The Bioinformatics/Genomics Core is one component within our community of researchers at the Center for Duchenne Muscular Dystrophy at UCLA that is directed towards promoting translational research in the area of musculoskeletal diseases, with a special focus on muscular dystrophy. The Core is available to investigators to provide advice and guidance on the use of microarray, massively parallel sequencing, and software tools for genomic assessment. A primary role for the core is providing upfront expert advice on the most appropriate and cost effective technology for use in a given biological setting. This is often of immense use across the broad set of investigators involved in the Center. Access to a broad array of technologies include 1) lllumina, Agilent, and Affymetrix array based systems for genotyping, gene expression and copy number assessments 2) lllumina 2500 HiSEQ and lllumina MiSEQ for the generation of whole genome data, whole exome data, targeted enrichment for variant discovery, RNA SEQ for sensitive gene expression and alternative splicing analysis, and CHIP and Methyl SEQ to assess epigenetic changes. The core has staffing to perform assay development and more routine genomic assays and to provide access to informatics tools and expert informatics processing of data for users. All of these services function through a University recharge system to ensure that costs are covered and that the service is available as demand grows across the growing muscular dystrophy community of researchers. This core facility has proven to be a valuable resource to Center Investigators with broad usage leading to new grant funding and high impact publications, and is integral to the overall functioning ofthe Center.

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Center Core Grants (P30)
Project #
2P30AR057230-06
Application #
8708701
Study Section
Special Emphasis Panel (ZAR1-XZ (M1))
Project Start
Project End
Budget Start
2014-04-01
Budget End
2015-03-31
Support Year
6
Fiscal Year
2014
Total Cost
$92,400
Indirect Cost
$32,400
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
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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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