The Genomics/Genetics Core will be responsible for providing high-throughput gene expression data,including validation of expression of select candidate genes, as well as genotyping and sequencing services,to include DMA and RNA isolation, quantification, plating and tracking, in order to achieve the overall aims ofthe Hopkins Rheumatic Disease Research Core Center (RDRCC). This Core will support the procurementand analysis of tissue samples from a variety of complex rheumatic disorders, including scleroderma, lupus,arthritis, and vasculitis. In genomics studies, patterns of gene expression will be analyzed within eachclinical and experimental condition. This approach will allow us to determine both concordantly anddiscordantly regulated gene clusters, link these gene clusters with physiological measurements of traits, anddetermine the gene profiles responsible for the development and maintenance of well-defined phenotypes.The genetics component will facilitate the validation of the physiological importance of genes and 'high risk'alleles in well-characterized cohorts, providing services that will enable Investigators to detect novel variantsand to test for association of variants in candidate genes for a variety of rheumatic diseases. Throughmicroarray analysis, we will be able to explore novel sentinel genes and regulatory pathways involved inrheumatic diseases and facilitate the selection of candidate genes for high-throughput genotyping. The Corewill interact directly with Core A, which will assist the Core with financial management, integrate informationtechnology solutions with the Core's database system, and coordinate the development of new researchendeavors by individual investigators. These data will be linked through Core B for downstream functionalstudies of genes identified in Core C. These comprehensive human genomic studies will complement therigorous phenotypic characterization provided by Investigators in the Research Base.
Specific Aims of theCore are: 1) to provide an integrated laboratory needed to support gene expression profiling and genotypingon samples from well-characterized patients with rheumatic disorders, experiment and project management,primer and assay design, and computational/analytical activities associated with genomic and genetic data;2) provide an efficient, cost-effective high-throughput expression profiling and genotyping service to meet thedemands of diverse individual projects, including a pilot project as part of the RDRCC which aims to test forassociation of genetic variants in a priority candidate gene for scleroderma, granzyme B (GZMB).
Showing the most recent 10 out of 125 publications
