Genomics/Genotyping

Johns Hopkins University, Baltimore MD

Investigators

Linked publications & trials

Abstract

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