Genomics_and_Proteomic-Core

NIH RePORTER · NIH · U54 · $173,761 · view on reporter.nih.gov ↗

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.

Key facts

NIH application ID
9998686
Project number
5U54HD090257-05
Recipient
CHILDREN'S RESEARCH INSTITUTE
Principal Investigator
ERIC P. HOFFMAN
Activity code
U54
Funding institute
NIH
Fiscal year
2020
Award amount
$173,761
Award type
5
Project period
— → —