The musculoskeletal research field is becoming increasingly focused on studies at the genetic level.In particular, a variety of evaluation tools have recently been developed that allow investigators tounderstand the molecular systems in which biological processes occurs. The field of functionalgenomics seeks to annotate genomic sequence with assignments of gene and regulatory elementidentities and locations, RNA variants and abundance levels, and protein variants, abundances andinteractions. As functional annotations accumulate, detailed and in-depth studies of specific genesand their products can be placed into a genomic context to reveal the molecular systems. In turn,those systems and processes can be studied using functional genomics techniques to identify thegenes important for their regulation. One such technique is transcript profiling, the parallelquantitation of RNA abundance for thousands of genes. Transcript profiling can be open-ended,using methods that do not rely on previous knowledge of gene sequences, or closed to a definedset of probes for known RNAs. The Penn Microarray Facility provides instrumentation andexpertise for RNA transcript profiling. The overall objective of this Microarray Core Facility is todevelop and utilize genomic analyses directed toward problems of musculoskeletal tissue injury andrepair.
The Specific Aims are to: 1) provide guidance and training on the capabilities, advantages,and disadvantages, of various genomic protocols and analyses for musculoskeletal researchthrough formal educational enrichment programs and through one-on-one interactions, 2) provideexpertise and service for Affymetrix GeneChip assays, 3) provide expertise and service for thedevelopment and use of custom printed microarrays, 4) facilitate access to training andbioinformatics tools appropriate for analyzing the data produced in Aims 2 and 3, and 5) providefunding for development of new projects and collaborations and to develop preliminary and/orfeasibility data for investigators. Successful completion of these aims will significantly enhance theenvironment and the capabilities of researchers at the University of Pennsylvania, leading to thedevelopment of novel and innovative approaches to musculoskeletal disorders.
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