The NHLBI Translational Program in Pediatric Cardiovascular Disease will encourage and facilitate translation of results from basic science to clinical research and to provide clinic input to needs for basic research. The Program will consist of the Pediatric Cardiac Genomics Consortium and the Cardiac Development Consortium supported by the Administrative Coordinating Center (ACC). Each Consortium will function independently but will interact with each other as well as with the NHLBI Pediatric Heart Network. Key areas of ACC responsibility and function include provision of logistical and support services; management and distribution of Consortia funds to support Research Cores; and provision of electronic information and communication services. In addition, study activities in the Pediatric Cardiac Genomics Consortium will be supported by the PHN DCC, i.e. harmonization of protocols and consent forms across the Consortium, development and programming of case report forms; training and certification of Research Center staff in conduct of Consortium studies, management of clinical research data, and quality control activities. NERI is uniquely qualified to serve as the ACC for this initiative. Most relevant, NERI has served most effectively as the Pediatric Heart Network Data Coordinating Center (PHN DCC) since its inception in 2001. NERI's contributions to the PHN have been significant and varies has encompass numerous administrative accomplishments that are highly relevant to the ACC, as well as other scientific, statistical, and technical accomplishments. The proposed leadership of the ACC consists of key investigators with the same leadership roles in the PHN DCC who will bring extensive, directly related, and highly complementary administrative, research and clinical experience in pediatric cardiology. NERI has a long history of coordinating center work (31 DCCs) that has allowed for greater efficiency and sharing of approaches for administrative procedures unique to clinical research networks as well as innovative data management, development of public and administrative websites, and methodologies for designing and analyzing clinical studies and trials and complex longitudinal data. In sum, NERI's scientific environment contributes substantially to the probability of successful completion of the activities of this Translational Program in Pediatric Cardiovascular Disease, including successful alignment with the Pediatric Heart Network.
The NHLBI translational program in pediatric cardiovascular disease consists of two research consortia whose work will lead to enhanced understanding of the molecular, cellular, and physiologic mechanisms responsible for healthy development and the relative contribution of genetic influences to the formation of cardiac defects in humans. Collaboration and integration of the work of the NHLBI Pediatric Heart Network will provide the pathway for the translation of research findings from these two Consortia to the conduct of clinical trials.
| Kulkarni, Saurabh S; Griffin, John N; Date, Priya P et al. (2018) WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation. Dev Cell 46:595-610.e3 |
| 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 |
| Manheimer, Kathryn B; Richter, Felix; Edelmann, Lisa J et al. (2018) Robust identification of mosaic variants in congenital heart disease. Hum Genet 137:183-193 |
| Shaaban, Sherin; MacKinnon, Sarah; Andrews, Caroline et al. (2018) Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci 59:4054-4064 |
| 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 |
| Hill, Jonathon T; Demarest, Bradley; Gorsi, Bushra et al. (2017) Heart morphogenesis gene regulatory networks revealed by temporal expression analysis. Development 144:3487-3498 |
| Shankaran, Sunita S; Dahlem, Timothy J; Bisgrove, Brent W et al. (2017) CRISPR/Cas9-Directed Gene Editing for the Generation of Loss-of-Function Mutants in High-Throughput Zebrafish F0 Screens. Curr Protoc Mol Biol 119:31.9.1-31.9.22 |
| Jin, Sheng Chih; Homsy, Jason; Zaidi, Samir et al. (2017) Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49:1593-1601 |
| McKean, David M; Homsy, Jason; Wakimoto, Hiroko et al. (2016) Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nat Commun 7:12824 |
| Johnson, Douglas B; Balko, Justin M; Compton, Margaret L et al. (2016) Fulminant Myocarditis with Combination Immune Checkpoint Blockade. N Engl J Med 375:1749-1755 |
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