CORE C ? GENOMICS AND PROTEOMICS CORE Eric Hoffman, PhD Core Director Director, Center for Genetic Medicine Research A James Clark Professor of Pediatrics Children's National Health System Yetrib Hathout, PhD Co-director of the Proteomics Sub-Core Center for Genetic Medicine Research Children?s National Health System Susan Knoblach, PhD Co-director of the Genomics Sub-Core Center for Genetic Medicine Research Children?s National Health System Kristy Brown, PhD Operations Manager, Proteomics Sub-Core Center for Genetic Medicine Research Children?s National Health System Heather Gordish-Dressman, PhD Genetics/High Content Statistics Center for Genetic Medicine Research Children?s National Health System Jeremy Goecks, PhD Bioinformatics Specialist Center for Genetic Medicine Research Children?s National Health System Abstract The goal of the Genomics and Proteomics Core (GPC) is to develop and implement cutting edge genomics and proteomics technologies - including bioinformatics - to support intellectual and developmental disability (IDD) research projects in the Washington DC metropolitan area (DC-IDDRC) and nationally through collaboration with other IDDRC centers. Support provided by the core includes both routine and specialized services to meet the need of DC-IDDRC investigators. The genomics services include conventional technologies (expression, SNP and methylation arrays) and newly implemented next-generation sequencing (NGS) of DNA/RNA on Illumina and Pacific BioSystems platforms. For the proteomics components, the core has standardized highly innovative and sensitive quantitative proteomic techniques using a combination of stable isotope labeling by amino acid in cell culture (SILAC) and in vivo in mice (SILAM), and provided them as services to DC-IDDRC investigators. Supported research projects include studies on neurodevelopmental disorders, brain injury (especially fetal and neonatal), and genetic disorders. A major strength of the GPC is the continuous upgrade of instrumentation and methods to keep pace with rapidly changing technology and investigator needs. Critical to this new U54 application, the GPC will help investigators transition their basic, translational and clinical research projects from bench to bedside. A close collaboration with the new Clinical Translational Core, as well as other DC-IDDRC Cores as needed, will facilitate this goal. One example, which is the focus of this new RFA, is development of noninvasive biomarkers to monitor disease progression and response to therapies in clinical trials. The core has developed highly accurate and highly multiplexed methods for discovery and validation of biomarkers in IDD-related diseases. We also propose a broad strategy for multi- level integrative analysis of ?omics? data, from DNA to proteins, utilizing substantial established computational infrastructure, together with newly emerging tools. Pipelines developed as part of this effort will be freely available through deposition in public resources. Overall, the objectives of the GPC are to: 1. Deliver individualized, full service, cost-effective assistance in state-of-the-art genomic and proteomic technologies to investigators engaged in research relevant to IDD; 2. Implement novel and emerging ?omics? approaches to enhance IDDR at the DC-IDDRC, and provide training and education about these technologies to DC-IDDRC investigators; and 3. Synergize and collaborate with other DC-IDDRC cores, DC-IDDRC investigators, the focused research project, and other IDDRCs to strengthen and enhance multidisciplinary IDDR.
GENOMICS AND PROTEOMICS CORE: NARRATIVE The genomics and proteomics core (GPC) provides state-of-the art technologies and specialized expertise to analyze genes and proteins to independent researchers who study the molecular causes of intellectual and developmental disabilities (IDD) in newborns and children. Studies that provide new information about the role that genes and proteins play in IDD will help clinicians and researchers better understand the underlying causes of IDD, which may lead to improvements in prevention, diagnosis, and treatment.
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