Abstract

Research for patients with congenital heart disease requires a cooperative and coordinated effort among research programs to efficiently translate results from basic science to clinical research, and to provide clinical input on pressing needs for basic research. Our proposed ACC to support the PCGC and CDDRC is a unique, integrated combination of world-leading pediatric cardiovascular clinical/translational research expertise, advanced infrastructure, outstanding institutional support, and state-of-the-art technology.

Public Health Relevance

The NHLBI?s Bench to Bassinet Program (B2B) was launched to accelerate pediatric cardiovascular translational research from discovery to early translational testing to clinical testing. The B2B is comprised of the Pediatric Cardiac Genomics Consortium (PCGC), the Cardiovascular Developmental Biology Data Resource Center (CDDRC), and the Pediatric Heart Network (PHN). Objectives of the PCGC are to identify genetic causes of human congenital heart disease and to relate genetic variants present in the congenital heart disease patient population to clinical outcomes. The CDDRC will expand the use of data previously generated by the B2B Cardiovascular Development Consortium (CvDC) to a broader number of data scientists by assembling the data into a queryable data repository complete with computational tools. The Administrative Coordinating Center (ACC) provides the infrastructure to enhance collaborations among the PCGC, CDDRC, and the PHN to identify and facilitate the translational research process for the most important pediatric cardiovascular clinical care problems. Our proposed ACC to support the PCGC and CDDRC is a unique, integrated combination of world-leading pediatric cardiovascular clinical/translational research expertise, advanced infrastructure, outstanding institutional support, and state-of-the-art technology. We believe these strengths to be critical for an ACC to successfully partner with the B2B program and NHLBI in leading the coordination of knowledge and data for this important pediatric cardiovascular research effort.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Project--Cooperative Agreements (U01)
Project #
2U01HL131003-06
Application #
10123138
Study Section
Special Emphasis Panel (ZHL1)
Program Officer
Schramm, Charlene A
Project Start
2016-01-01
Project End
2024-12-31
Budget Start
2021-01-01
Budget End
2021-12-31
Support Year
6
Fiscal Year
2021
Total Cost
Indirect Cost

  Institution

Name
Cincinnati Children's Hospital Medical Center
Department
Type
DUNS #
071284913
City
Cincinnati
State
OH
Country
United States
Zip Code
45229

  Publications

Manheimer, Kathryn B; Patel, Nihir; Richter, Felix et al. (2018) Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Hum Mutat 39:870-881
Hoang, Thanh T; Goldmuntz, Elizabeth; Roberts, Amy E et al. (2018) The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One 13:e0191319
Guo, Yuxuan; Jardin, Blake D; Zhou, Pingzhu et al. (2018) Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor. Nat Commun 9:3837
Matsunami, Nori; Shanmugam, Hari; Baird, Lisa et al. (2018) Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. Birth Defects Res 110:610-617
Abdul-Wajid, Sarah; Demarest, Bradley L; Yost, H Joseph (2018) Loss of embryonic neural crest derived cardiomyocytes causes adult onset hypertrophic cardiomyopathy in zebrafish. Nat Commun 9:4603
Sun, Xin; Hota, Swetansu K; Zhou, Yu-Qing et al. (2018) Cardiac-enriched BAF chromatin-remodeling complex subunit Baf60c regulates gene expression programs essential for heart development and function. Biol Open 7:
Guo, Yuxuan; Pu, William T (2018) Genetic Mosaics for Greater Precision in Cardiovascular Research. Circ Res 123:27-29
Dickel, Diane E; Ypsilanti, Athena R; Pla, Ramón et al. (2018) Ultraconserved Enhancers Are Required for Normal Development. Cell 172:491-499.e15
Martinelli, Simone; Krumbach, Oliver H F; Pantaleoni, Francesca et al. (2018) Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet 102:309-320
Agopian, A J; Goldmuntz, Elizabeth; Hakonarson, Hakon et al. (2017) Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10:e001449

Showing the most recent 10 out of 16 publications